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UniProtKB - Q8WXH0 (SYNE2_HUMAN)

Entry version 193 (10 Feb 2021)
Sequence version 3 (17 Oct 2006)
Previous versions | rss
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Protein

Nesprin-2

Gene

SYNE2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. May be involved in nucleus-centrosome attachment. During interkinetic nuclear migration (INM) at G2 phase and nuclear migration in neural progenitors its LINC complex association with SUN1/2 and probable association with cytoplasmic dynein-dynactin motor complexes functions to pull the nucleus toward the centrosome; SYNE1 and SYNE2 may act redundantly. During INM at G1 phase mediates respective LINC complex association with kinesin to push the nucleus away from the centrosome. Involved in nuclear migration in retinal photoreceptor progenitors. Required for centrosome migration to the apical cell surface during early ciliogenesis.By similarity5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WXH0

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1221632, Meiotic synapsis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nesprin-2
Alternative name(s):
KASH domain-containing protein 2
Short name:
KASH2
Nuclear envelope spectrin repeat protein 2
Nucleus and actin connecting element protein
Short name:
Protein NUANCE
Synaptic nuclear envelope protein 2
Short name:
Syne-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SYNE2
Synonyms:KIAA1011, NUA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17084, SYNE2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608442, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WXH0

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000054654.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 6834CytoplasmicPROSITE-ProRule annotationAdd BLAST6834
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei6835 – 6855Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd BLAST21
Topological domaini6856 – 6885Perinuclear spacePROSITE-ProRule annotationAdd BLAST30

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Mitochondrion, Nucleus, Sarcoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0629776211T → M in EDMD5. 1 PublicationCorresponds to variant dbSNP:rs36215895EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi6876L → A: Disrupts interaction with SUN2. 1 Publication1
Mutagenesisi6878Y → A: Disrupts interaction with SUN2. 1 Publication1
Mutagenesisi6883P → A: Disrupts interaction with SUN2. 1 Publication1

Keywords - Diseasei

Disease variant, Emery-Dreifuss muscular dystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		23224

MalaCards human disease database

More...MalaCardsi		SYNE2
MIMi612999, phenotype

Open Targets

More...OpenTargetsi		ENSG00000054654

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		98853, Autosomal dominant Emery-Dreifuss muscular dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA128394613

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WXH0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SYNE2

Domain mapping of disease mutations (DMDM)

More...DMDMi		116242809

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001635921 – 6885Nesprin-2Add BLAST6885

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei841PhosphoserineCombined sources1
Modified residuei955N6-acetyllysineCombined sources1
Modified residuei2781PhosphoserineCombined sources1
Modified residuei4108PhosphoserineCombined sources1
Modified residuei5785PhosphoserineCombined sources1
Modified residuei6361PhosphoserineCombined sources1
Modified residuei6384PhosphoserineBy similarity1
Modified residuei6411PhosphoserineBy similarity1
Modified residuei6428PhosphoserineBy similarity1
Modified residuei6429PhosphoserineBy similarity1
Modified residuei6430PhosphoserineBy similarity1
Modified residuei6459PhosphoserineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi6862Interchain (with C-563 in SUN2)1 Publication1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The disulfid bond with SUN2 is required for stability of the SUN2:SYNE2/KASH2 LINC complex under tensile forces though not required for the interaction.1 Publication

Keywords - PTMi

Acetylation, Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8WXH0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WXH0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WXH0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WXH0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8WXH0

PeptideAtlas

More...PeptideAtlasi		Q8WXH0

PRoteomics IDEntifications database

More...PRIDEi		Q8WXH0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70449
75044 [Q8WXH0-1]
75045 [Q8WXH0-2]
75046 [Q8WXH0-3]
75047 [Q8WXH0-4]
75048 [Q8WXH0-5]
75049 [Q8WXH0-6]
75050 [Q8WXH0-7]
75051 [Q8WXH0-8]
75052 [Q8WXH0-9]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q8WXH0

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8WXH0, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WXH0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8WXH0

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8WXH0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed, with higher level in kidney, adult and fetal liver, stomach and placenta. Weakly expressed in skeletal muscle and brain. Isoform 5 is highly expressed in pancreas, skeletal muscle and heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000054654, Expressed in ventricular zone and 232 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WXH0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WXH0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000054654, Tissue enhanced (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Core component of LINC complexes which are composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, some LINC complex constituents are tissue- or cell type-specific. At least SUN1/2-containing core LINC complexes are proposed to be hexameric composed of three protomers of each KASH and SUN domain-containing protein. The SUN2:SYNE2/KASH2 complex is a heterohexamer; the homotrimeric cloverleave-like conformation of the SUN domain is a prerequisite for LINC complex formation in which three separate SYNE2/KASH2 peptides bind at the interface of adjacent SUN domains.

Interacts with EMD, LMNA, MKS3 and F-actin via its N-terminal domain.

Interacts with DCTN1 and DYNC1I1/2; suggesting the association with the dynein-dynactin motor complex. Associates with kinesin motor complexes.

Interacts with TMEM67.

By similarity7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116830, 73 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8WXH0

Database of interacting proteins

More...DIPi		DIP-53409N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q8WXH0

Protein interaction database and analysis system

More...IntActi		Q8WXH0, 54 interactors

Molecular INTeraction database

More...MINTi		Q8WXH0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000350719

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WXH0, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

16885
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8WXH0

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini31 – 136Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST106
Domaini181 – 286Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST106
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati297 – 378Spectrin 1Add BLAST82
Repeati379 – 472Spectrin 2Add BLAST94
Repeati473 – 575Spectrin 3Add BLAST103
Repeati576 – 680Spectrin 4Add BLAST105
Repeati735 – 838Spectrin 5Add BLAST104
Repeati839 – 932Spectrin 6Add BLAST94
Repeati933 – 1034Spectrin 7Add BLAST102
Repeati1121 – 1212Spectrin 8Add BLAST92
Repeati1263 – 1323Spectrin 9Add BLAST61
Repeati1324 – 1419Spectrin 10Add BLAST96
Repeati1420 – 1524Spectrin 11Add BLAST105
Repeati1525 – 1636Spectrin 12Add BLAST112
Repeati1637 – 1738Spectrin 13Add BLAST102
Repeati1739 – 1830Spectrin 14Add BLAST92
Repeati1831 – 1938Spectrin 15Add BLAST108
Repeati1939 – 2036Spectrin 16Add BLAST98
Repeati2037 – 2132Spectrin 17Add BLAST96
Repeati2133 – 2243Spectrin 18Add BLAST111
Repeati2244 – 2360Spectrin 19Add BLAST117
Repeati2432 – 2513Spectrin 20Add BLAST82
Repeati2514 – 2620Spectrin 21Add BLAST107
Repeati2621 – 2717Spectrin 22Add BLAST97
Repeati2718 – 2831Spectrin 23Add BLAST114
Repeati2832 – 2933Spectrin 24Add BLAST102
Repeati2934 – 3036Spectrin 25Add BLAST103
Repeati3037 – 3142Spectrin 26Add BLAST106
Repeati3143 – 3248Spectrin 27Add BLAST106
Repeati3249 – 3352Spectrin 28Add BLAST104
Repeati3353 – 3465Spectrin 29Add BLAST113
Repeati3466 – 3573Spectrin 30Add BLAST108
Repeati3574 – 3679Spectrin 31Add BLAST106
Repeati3680 – 3777Spectrin 32Add BLAST98
Repeati3778 – 3880Spectrin 33Add BLAST103
Repeati3881 – 3986Spectrin 34Add BLAST106
Repeati3987 – 4086Spectrin 35Add BLAST100
Repeati4229 – 4348Spectrin 36Add BLAST120
Repeati4520 – 4639Spectrin 37Add BLAST120
Repeati4640 – 4727Spectrin 38Add BLAST88
Repeati4728 – 4837Spectrin 39Add BLAST110
Repeati4838 – 4943Spectrin 40Add BLAST106
Repeati4944 – 5051Spectrin 41Add BLAST108
Repeati5052 – 5164Spectrin 42Add BLAST113
Repeati5165 – 5266Spectrin 43Add BLAST102
Repeati5267 – 5391Spectrin 44Add BLAST125
Repeati5392 – 5487Spectrin 45Add BLAST96
Repeati5488 – 5589Spectrin 46Add BLAST102
Repeati5590 – 5704Spectrin 47Add BLAST115
Repeati5705 – 5799Spectrin 48Add BLAST95
Repeati5800 – 5907Spectrin 49Add BLAST108
Repeati5908 – 6017Spectrin 50Add BLAST110
Repeati6018 – 6135Spectrin 51Add BLAST118
Repeati6136 – 6243Spectrin 52Add BLAST108
Repeati6244 – 6355Spectrin 53Add BLAST112
Repeati6461 – 6549Spectrin 54Add BLAST89
Repeati6550 – 6665Spectrin 55Add BLAST116
Repeati6666 – 6782Spectrin 56Add BLAST117
Domaini6826 – 6885KASHPROSITE-ProRule annotationAdd BLAST60

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 286Actin-bindingAdd BLAST286
Regioni6872 – 6885Sufficient for interaction with SUN21 PublicationAdd BLAST14

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili297 – 6782Sequence analysisAdd BLAST6486

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The KASH domain mediates the nuclear envelope targeting.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the nesprin family.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0516, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154656

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000034_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WXH0

Identification of Orthologs from Complete Genome Data

More...OMAi		WQTTYAL

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WXH0

TreeFam database of animal gene trees

More...TreeFami		TF329280

Family and domain databases

Conserved Domains Database

More...CDDi		cd00014, CH, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.418.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001589, Actinin_actin-bd_CS
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR012315, KASH
IPR018159, Spectrin/alpha-actinin
IPR002017, Spectrin_repeat
IPR030266, SYNE2

The PANTHER Classification System

More...PANTHERi		PTHR47535:SF6, PTHR47535:SF6, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00307, CH, 2 hits
PF10541, KASH, 1 hit
PF00435, Spectrin, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00033, CH, 2 hits
SM01249, KASH, 1 hit
SM00150, SPEC, 18 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47576, SSF47576, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00019, ACTININ_1, 1 hit
PS00020, ACTININ_2, 1 hit
PS50021, CH, 2 hits
PS51049, KASH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (13+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 13 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 13 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WXH0-1) [UniParc]FASTAAdd to basket
Also known as: Nesprin-2 Giant, NUANCE

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASSPELPTE DEQGSWGIDD LHISLQAEQE DTQKKAFTCW INSQLARHTS 
        60         70         80         90        100
PSVISDLFTD IKKGHVLLDL LEVLSGQQLP RDKGSNTFQC RINIEHALTF 
       110        120        130        140        150
LRNRSIKLIN IHVTDIIDGN PSIILGLIWT IILHFHIEKL AQTLSCNYNQ 
       160        170        180        190        200
PSLDDVSVVD SSPASSPPAK KCSKVQARWQ MSARKALLLW AQEQCATYES 
       210        220        230        240        250
VNVTDFKSSW RNGMAFLAII HALRPDLIDM KSVKHRSNKD NLREAFRIAE 
       260        270        280        290        300
QELKIPRLLE PEDVDVVDPD EKSIMTYVAQ FLQYSKDAPG TGEEAQGKVK 
       310        320        330        340        350
DAMGWLTLQK EKLQKLLKDS ENDTYFKKYN SLLSFMESFN EEKKSFLDVL 
       360        370        380        390        400
SIKRDLDELD KDHLQLREAW DGLDHQINAW KIKLNYALPP PLHQTEAWLQ 
       410        420        430        440        450
EVEELMDEDL SASQDHSQAV TLIQEKMTLF KSLMDRFEHH SNILLTFENK 
       460        470        480        490        500
DENHLPLVPP NKLEEMKRRI NNILEKKFIL LLEFHYYKCL VLGLVDEVKS 
       510        520        530        540        550
KLDIWNIKYG SRESVELLLE DWHKFIEEKE FLARLDTSFQ KCGEIYKNLA 
       560        570        580        590        600
GECQNINKQY MMVKSDVCMY RKNIYNVKST LQKVLACWAT YVENLRLLRA 
       610        620        630        640        650
CFEETKKEEI KEVPFETLAQ WNLEHATLNE AGNFLVEVSN DVVGSSISKE 
       660        670        680        690        700
LRRLNKRWRK LVSKTQLEMN LPLMIKKQDQ PTFDNSGNIL SKEEKATVEF 
       710        720        730        740        750
STDMSVELPE NYNQNIKAGE KHEKENEEFT GQLKVAKDVE KLIGQVEIWE 
       760        770        780        790        800
AEAKSVLDQD DVDTSMEESL KHLIAKGSMF DELMARSEDM LQMDIQNISS 
       810        820        830        840        850
QESFQHVLTT GLQAKIQEAK EKVQINVVKL IAALKNLTDV SPDLDIRLKM 
       860        870        880        890        900
EESQKELESY MMRAQQLLGQ RESPGELISK HKEALIISNT KSLAKYLKAV 
       910        920        930        940        950
EELKNNVTED IKMSLEEKSR DVCAKWESLH HELSLYVQQL KIDIEKGKLS 
       960        970        980        990       1000
DNILKLEKQI NKEKKLIRRG RTKGLIKEHE ACFSEEGCLY QLNHHMEVLR 
      1010       1020       1030       1040       1050
ELCEELPSQK SQQEVKRLLK DYEQKIERLL KCASEIHMTL QPTAGGTSKN 
      1060       1070       1080       1090       1100
EGTITTSENR GGDPHSEAPF AKSDNQPSTE KAMEPTMKFS LASVLRPLQE 
      1110       1120       1130       1140       1150
ESIMEKDYSA SINSLLERYD TYRDILEHHL QNNKFRITSD FSSEEDRSSS 
      1160       1170       1180       1190       1200
CLQAKLTDLQ VIKNETDARW KEFEIISLKL ENHVNDIKKP FVIKERDTLK 
      1210       1220       1230       1240       1250
ERERELQMTL NTRMESLETA LRLVLPVEKA SLLLCGSDLP LHKMAIQGFH 
      1260       1270       1280       1290       1300
LIDADRIYQH LRNIQDSIAK QIEICNRLEE PGNFVLKELH PFDLHAMQNI 
      1310       1320       1330       1340       1350
ILKYKTQFEG MNHRVQRSED TLKALEDFLA SLRTAKLSAE PVTDLSASDT 
      1360       1370       1380       1390       1400
QVAQENTLTV KNKEGEIHLM KDKAKHLDKC LKMLDMSFKD AERGDDTSCE 
      1410       1420       1430       1440       1450
NLLDAFSIKL SETHGYGVQE EFTEENKLLE ACIFKNNELL KNIQDVQSQI 
      1460       1470       1480       1490       1500
SKIGLKDPTV PAVKHRKKSL IRLDKVLDEY EEEKRHLQEM ANSLPHFKDG 
      1510       1520       1530       1540       1550
REKTVNQQCQ NTVVLWENTK ALVTECLEQC GRVLELLKQY QNFKSILTTL 
      1560       1570       1580       1590       1600
IQKEESVISL QASYMGKENL KKRIAEIEIV KEEFNEHLEV VDKINQVCKN 
      1610       1620       1630       1640       1650
LQFYLNKMKT FEEPPFEKEA NIIVDRWLDI NEKTEDYYEN LGRALALWDK 
      1660       1670       1680       1690       1700
LFNLKNVIDE WTEKALQKME LHQLTEEDRE RLKEELQVHE QKTSEFSRRV 
      1710       1720       1730       1740       1750
AEIQFLLQSS EIPLELQVME SSILNKMEHV QKCLTGESNC HALSGSTAEL 
      1760       1770       1780       1790       1800
REDLDQAKTQ IGMTESLLKA LSPSDSLEIF TKLEEIQQQI LQQKHSMILL 
      1810       1820       1830       1840       1850
ENQIGCLTPE LSELKKQYES VSDLFNTKKS VLQDHFSKLL NDQCKNFNDW 
      1860       1870       1880       1890       1900
FSNIKVNLKE CFESSETKKS VEQKLQKLSD FLTLEGRNSK IKQVDSVLKH 
      1910       1920       1930       1940       1950
VKKHLPKAHV KELISWLVGQ EFELEKMESI CQARAKELED SLQQLLRLQD 
      1960       1970       1980       1990       2000
DHRNLRKWLT NQEEKWKGME EPGEKTELFC QALARKREQF ESVAQLNNSL 
      2010       2020       2030       2040       2050
KEYGFTEEEE IIMEATCLMD RYQTLLRQLS EIEEEDKLLP TEDQSFNDLA 
      2060       2070       2080       2090       2100
HDVIHWIKEI KESLMVLNSS EGKMPLEERI QKIKEIILLK PEGDARIETI 
      2110       2120       2130       2140       2150
MKQAESSEAP LVQKTLTDIS NQWDNTLHLA STYLSHQEKL LLEGEKYLQS 
      2160       2170       2180       2190       2200
KEDLRLMLIE LKKKQEAGFA LQHGLQEKKA QLKIYKKFLK KAQDLTSLLK 
      2210       2220       2230       2240       2250
ELKSQGNYLL ECTKNPSFSE EPWLEIKHLH ESLLQQLQDS VQNLDGHVRE 
      2260       2270       2280       2290       2300
HDSYQVCVTD LNTTLDNFSK EFVSFSDKPV DQIAVEEKLQ KLQELENRLS 
      2310       2320       2330       2340       2350
LQDGTLKKIL ALAKSVKQNT SSVGQKIIKD DIKSLQCKQK DLENRLASAK 
      2360       2370       2380       2390       2400
QEMECCLNSI LKSKRSTEKK GKFTLPGREK QATSDVQEST QESAAVEKLE 
      2410       2420       2430       2440       2450
EDWEINKDSA VEMAMSKQLS LNAQESMKNT EDERKVNELQ NQPLELDTML 
      2460       2470       2480       2490       2500
RNEQLEEIEK LYTQLEAKKA AIKPLEQTEC LNKTETGALV LHNIGYSAQH 
      2510       2520       2530       2540       2550
LDNLLQALIT LKKNKESQYC VLRDFQEYLA AVESSMKALL TDKESLKVGP 
      2560       2570       2580       2590       2600
LDSVTYLDKI KKFIASIEKE KDSLGNLKIK WENLSNHVTD MDKKLLESQI 
      2610       2620       2630       2640       2650
KQLEHGWEQV EQQIQKKYSQ QVVEYDEFTT LMNKVQDTEI SLQQQQQHLQ 
      2660       2670       2680       2690       2700
LRLKSPEERA GNQSMIALTT DLQATKHGFS VLKGQAELQM KRIWGEKEKK 
      2710       2720       2730       2740       2750
NLEDGINNLK KQWETLEPLH LEAENQIKKC DIRNKMKETI LWAKNLLGEL 
      2760       2770       2780       2790       2800
NPSIPLLPDD ILSQIRKCKV THDGILARQQ SVESLAEEVK DKVPSLTTYE 
      2810       2820       2830       2840       2850
GSDLNNTLED LRNQYQMLVL KSTQRSQQLE FKLEERSNFF AIIRKFQLMV 
      2860       2870       2880       2890       2900
QESETLIIPR VETAATEAEL KHHHVTLEAS QKELQEIDSG ISTHLQELTN 
      2910       2920       2930       2940       2950
IYEELNVFER LFLEDQLKNL KIRTNRIQRF IQNTCNEVEH KIKFCRQFHE 
      2960       2970       2980       2990       3000
KTSALQEEAD SIQRNELLLN QEVNKGVKEE IYNLKDRLTA IKCCILQVLK 
      3010       3020       3030       3040       3050
LKKVFDYIGL NWDFSQLDQL QTQVFEKEKE LEEKIKQLDT FEEEHGKYQA 
      3060       3070       3080       3090       3100
LLSKMRAIDL QIKKMTEVVL KAPDSSPESR RLNAQILSQR IEKAKCLCDE 
      3110       3120       3130       3140       3150
IIKKLNENKT FDDSFKEKEI LQIKLNAEEN DKLYKVLQNM VLELSPKELD 
      3160       3170       3180       3190       3200
EKNCQDKLET SLHVLNQIKS QLQQPLLINL EIKHIQNEKD NCEAFQEQVW 
      3210       3220       3230       3240       3250
AEMCSIKAVT AIEKQREENS SEASDVETKL REFEDLQMQL NTSIDLRTNV 
      3260       3270       3280       3290       3300
LNDAYENLTR YKEAVTRAVE SITSLEAIII PYRVDVGNPE ESLEMPLRKQ 
      3310       3320       3330       3340       3350
EELESTVAHI QDLTEKLGMI SSPEAKLQLQ YTLQELVSKN SAMKEAFKAQ 
      3360       3370       3380       3390       3400
ETEAERYLEN YKCYRKMEED IYTNLSKMET VLGQSMSSLP LSYREALERL 
      3410       3420       3430       3440       3450
EQSKALVSNL ISTKEELMKL RQILRLLRLR CTENDGICLL KIVSALWEKW 
      3460       3470       3480       3490       3500
LSLLEAAKEW EMWCEELKQE WKFVSEEIER EAIILDNLQE ELPEISKTKE 
      3510       3520       3530       3540       3550
AATTEELSEL LDCLCQYGEN VEKQQLLLTL LLQRIRSIQN VPESSGAVET 
      3560       3570       3580       3590       3600
VPAFQEITSM KERCNKLLQK VQKNKELVQT EIQERHSFTK EIIALKNFFQ 
      3610       3620       3630       3640       3650
QTTTSFQNMA FQDHPEKSEQ FEELQSILKK GKLTFENIME KLRIKYSEMY 
      3660       3670       3680       3690       3700
TIVPAEIESQ VEECRKALED IDEKISNEVL KSSPSYAMRR KIEEINNGLH 
      3710       3720       3730       3740       3750
NVEKMLQQKS KNIEKAQEIQ KKMWDELDLW HSKLNELDSE VQDIVEQDPG 
      3760       3770       3780       3790       3800
QAQEWMDNLM IPFQQYQQVS QRAECRTSQL NKATVKMEEY SDLLKSTEAW 
      3810       3820       3830       3840       3850
IENTSHLLAN PADYDSLRTL SHHASTVQMA LEDSEQKHNL LHSIFMDLED 
      3860       3870       3880       3890       3900
LSIIFETDEL TQSIQELSNQ VTALQQKIME SLPQIQRMAD DVVAIESEVK 
      3910       3920       3930       3940       3950
SMEKRVSKIK TILLSKEIFD FSPEEHLKHG EVILENIRPM KKTIAEIVSY 
      3960       3970       3980       3990       4000
QVELRLPQTG MKPLPVFQRT NQLLQDIKLL ENVTQEQNEL LKVVIKQTNE 
      4010       4020       4030       4040       4050
WDEEIENLKQ ILNNYSAQFS LEHMSPDQAD KLPQLQGEIE RMEKQILSLN 
      4060       4070       4080       4090       4100
QRKEDLLVDL KATVLNLHQH LKQEQEGVER DRLPAVTSEE GGVAERDASE 
      4110       4120       4130       4140       4150
RKLNRRGSMS YLAAVEEEVE ESSVKSDNGD EKAEPSPQSW SSLWKHDKDM 
      4160       4170       4180       4190       4200
EEDRASSSSG TIVQEAYGKI STSDNSMAQI LTPDSLNTEQ GPECSLRPNQ 
      4210       4220       4230       4240       4250
TEEGTTPPIE ADTLDSSDAQ GGLEPRVEKT RPEPTEVLHA CKTQVAELEL 
      4260       4270       4280       4290       4300
WLQQANVAVE PETLNADMQQ VLEQQLVGCQ AMLTEIEHKV AFLLETCKDQ 
      4310       4320       4330       4340       4350
GLGDNGATQH EAEALSLKLK TVKCNLEKVQ MMLQEKHSED QHPTILKKSS 
      4360       4370       4380       4390       4400
EPEHQEALQP VNLSELESIV TERPQFSRQK DFQQQQVLEL KPMEQKDFIK 
      4410       4420       4430       4440       4450
FIEFNAKKMW PQYCQHDNDT TQESSASNQA SSPENDVPDS ILSPQGQNGD 
      4460       4470       4480       4490       4500
KWQYLHHELS SKIKLPLPQL VEPQVSTNMG ILPSVTMYNF RYPTTEELKT 
      4510       4520       4530       4540       4550
YTTQLEDLRQ EASNLQTQEN MTEEAYINLD KKLFELFLTL SQCLSSVEEM 
      4560       4570       4580       4590       4600
LEMPRLYRED GSGQQVHYET LALELKKLYL ALSDKKGDLL KAMTWPGENT 
      4610       4620       4630       4640       4650
NLLLECFDNL QVCLEHTQAA AVCRSKSLKA GLDYNRSYQN EIKRLYHQLI 
      4660       4670       4680       4690       4700
KSKTSLQQSL NEISGQSVAE QLQKADAYTV ELENAESRVA KLRDEGERLH 
      4710       4720       4730       4740       4750
LPYALLQEVY KLEDVLDSMW GMLRARYTEL SSPFVTESQQ DALLQGMVEL 
      4760       4770       4780       4790       4800
VKIGKEKLAH GHLKQTKSKV ALQAQIENHK VFFQKLVADM LLIQAYSAKI 
      4810       4820       4830       4840       4850
LPSLLQNRET FWAEQVTEVK ILEEKSRQCG MKLQSLLQKW EEFDENYASL 
      4860       4870       4880       4890       4900
EKDLEILIST LPSVSLVEET EERLVERISF YQQIKRNIGG KHARLYQTLN 
      4910       4920       4930       4940       4950
EGKQLVASVS CPELEGQIAK LEEQWLSLNK KIDHELHRLQ ALLKHLLSYN 
      4960       4970       4980       4990       5000
RDSDQLTKWL ESSQHTLNYW KEQSLNVSQD LDTIRSNINN FFEFSKEVDE 
      5010       5020       5030       5040       5050
KSSLKTAVIS IGNQLLHLKE TDTATLRASL AQFEQKWTML ITQLPDIQEK 
      5060       5070       5080       5090       5100
LHQLQMEKLP SRKAITEMIS WMNNVEHQTS DEDSVHSPSS ASQVKHLLQK 
      5110       5120       5130       5140       5150
HKEFRMEMDY KQWIVDFVNQ SLLQLSTCDV ESKRYERTEF AEHLGEMNRQ 
      5160       5170       5180       5190       5200
WHRVHGMLNR KIQHLEQLLE SITESENKIQ ILNNWLEAQE ERLKTLQKPE 
      5210       5220       5230       5240       5250
SVISVQKLLL DCQDIENQLA IKSKALDELK QSYLTLESGA VPLLEDTASR 
      5260       5270       5280       5290       5300
IDELFQKRSS VLTQVNQLKT SMQSVLQEWK IYDQLYDEVN MMTIRFWYCM 
      5310       5320       5330       5340       5350
EHSKPVVLSL ETLRCQVENL QSLQDEAESS EGSWEKLQEV IGKLKGLCPS 
      5360       5370       5380       5390       5400
VAEIIEEKCQ NTHKRWTQVN QAIADQLQKA QSLLQLWKAY SNAHGEAAAR 
      5410       5420       5430       5440       5450
LKQQEAKFQQ LANISMSGNN LAEILPPALQ DIKELQHDVQ KTKEAFLQNS 
      5460       5470       5480       5490       5500
SVLDRLPQPA ESSTHMLLPG PLHSLQRAAY LEKMLLVKAN EFEFVLSQFK 
      5510       5520       5530       5540       5550
DFGVRLESLK GLIMHEEENL DRLHQQEKEN PDSFLNHVLA LTAQSPDIEH 
      5560       5570       5580       5590       5600
LNEVSLKLPL SDVAVKTLQN MNRQWIRATA TALERCSELQ GIGLNEKFLY 
      5610       5620       5630       5640       5650
CCEKWIQLLE KIEEALKVDV ANSLPELLEQ QKTYKMLEAE VSINQTIADS 
      5660       5670       5680       5690       5700
YVTQSLQLLD TTEIENRPEF ITEFSKLTDR WQNAVQGVRQ RKGDVDGLVR 
      5710       5720       5730       5740       5750
QWQDFTTSVE NLFRFLTDTS HLLSAVKGQE RFSLYQTRSL IHELKNKEIH 
      5760       5770       5780       5790       5800
FQRRRTTCAL TLEAGEKLLL TTDLKTKESV GRRISQLQDS WKDMEPQLAE 
      5810       5820       5830       5840       5850
MIKQFQSTVE TWDQCEKKIK ELKSRLQVLK AQSEDPLPEL HEDLHNEKEL 
      5860       5870       5880       5890       5900
IKELEQSLAS WTQNLKELQT MKADLTRHVL VEDVMVLKEQ IEHLHRQWED 
      5910       5920       5930       5940       5950
LCLRVAIRKQ EIEDRLNTWV VFNEKNKELC AWLVQMENKV LQTADISIEE 
      5960       5970       5980       5990       6000
MIEKLQKDCM EEINLFSENK LQLKQMGDQL IKASNKSRAA EIDDKLNKIN 
      6010       6020       6030       6040       6050
DRWQHLFDVI GSRVKKLKET FAFIQQLDKN MSNLRTWLAR IESELSKPVV 
      6060       6070       6080       6090       6100
YDVCDDQEIQ KRLAEQQDLQ RDIEQHSAGV ESVFNICDVL LHDSDACANE 
      6110       6120       6130       6140       6150
TECDSIQQTT RSLDRRWRNI CAMSMERRMK IEETWRLWQK FLDDYSRFED 
      6160       6170       6180       6190       6200
WLKSAERTAA CPNSSEVLYT SAKEELKRFE AFQRQIHERL TQLELINKQY 
      6210       6220       6230       6240       6250
RRLARENRTD TASRLKQMVH EGNQRWDNLQ RRVTAVLRRL RHFTNQREEF 
      6260       6270       6280       6290       6300
EGTRESILVW LTEMDLQLTN VEHFSESDAD DKMRQLNGFQ QEITLNTNKI 
      6310       6320       6330       6340       6350
DQLIVFGEQL IQKSEPLDAV LIEDELEELH RYCQEVFGRV SRFHRRLTSC 
      6360       6370       6380       6390       6400
TPGLEDEKEA SENETDMEDP REIQTDSWRK RGESEEPSSP QSLCHLVAPG 
      6410       6420       6430       6440       6450
HERSGCETPV SVDSIPLEWD HTGDVGGSSS HEEDEEGPYY SALSGKSISD 
      6460       6470       6480       6490       6500
GHSWHVPDSP SCPEHHYKQM EGDRNVPPVP PASSTPYKPP YGKLLLPPGT 
      6510       6520       6530       6540       6550
DGGKEGPRVL NGNPQQEDGG LAGITEQQSG AFDRWEMIQA QELHNKLKIK 
      6560       6570       6580       6590       6600
QNLQQLNSDI SAITTWLKKT EAELEMLKMA KPPSDIQEIE LRVKRLQEIL 
      6610       6620       6630       6640       6650
KAFDTYKALV VSVNVSSKEF LQTESPESTE LQSRLRQLSL LWEAAQGAVD 
      6660       6670       6680       6690       6700
SWRGGLRQSL MQCQDFHQLS QNLLLWLASA KNRRQKAHVT DPKADPRALL 
      6710       6720       6730       6740       6750
ECRRELMQLE KELVERQPQV DMLQEISNSL LIKGHGEDCI EAEEKVHVIE 
      6760       6770       6780       6790       6800
KKLKQLREQV SQDLMALQGT QNPASPLPSF DEVDSGDQPP ATSVPAPRAK 
      6810       6820       6830       6840       6850
QFRAVRTTEG EEETESRVPG STRPQRSFLS RVVRAALPLQ LLLLLLLLLA 
      6860       6870       6880 
CLLPSSEEDY SCTQANNFAR SFYPMLRYTN GPPPT
Length:6,885
Mass (Da):796,442
Last modified:October 17, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3D37E27B080ADBD8
GO
Isoform 2 (identifier: Q8WXH0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     6444-6444: S → SDVEIPENPEAYLKMTTKTLKASS
     6801-6801: Missing.

Show »
Length:6,907
Mass (Da):798,862
Checksum:i7E7F66AF95A99F70
GO
Isoform 3 (identifier: Q8WXH0-3) [UniParc]FASTAAdd to basket
Also known as: epsilon2, JAM19

The sequence of this isoform differs from the canonical sequence as follows:
     1-6030: Missing.

Note: Produced by exon skipping that results in a frameshift.Curated
Show »
Length:855
Mass (Da):98,039
Checksum:i554952A1E70DF621
GO
Isoform 4 (identifier: Q8WXH0-4) [UniParc]FASTAAdd to basket
Also known as: beta1

The sequence of this isoform differs from the canonical sequence as follows:
     1-6122: Missing.

Show »
Length:763
Mass (Da):87,403
Checksum:iCAE53C333FE028A0
GO
Isoform 5 (identifier: Q8WXH0-5) [UniParc]FASTAAdd to basket
Also known as: alpha1

The sequence of this isoform differs from the canonical sequence as follows:
     1-6366: Missing.
     6444-6444: S → SDVEIPENPEAYLKMTTKTLKASS
     6664-6664: Q → QGSKTRPRSDVLFFK

Show »
Length:556
Mass (Da):62,199
Checksum:iFA2F772713B7A977
GO
Isoform 6 (identifier: Q8WXH0-6) [UniParc]FASTAAdd to basket
Also known as: alpha2

The sequence of this isoform differs from the canonical sequence as follows:
     1-6469: Missing.
     6664-6664: Q → QGSKTRPRSDVLFFK
     6801-6801: Missing.

Show »
Length:429
Mass (Da):48,159
Checksum:i8BF416B8EEA07C63
GO
Isoform 7 (identifier: Q8WXH0-7) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-3638: Missing.
     3828-3828: Q → QDSKCFRSGPRPNIYVSYYVTVIQ

Show »
Length:3,270
Mass (Da):377,193
Checksum:i5F53FE3B7E37EDAB
GO
Isoform 8 (identifier: Q8WXH0-8) [UniParc]FASTAAdd to basket
Also known as: p32CH

The sequence of this isoform differs from the canonical sequence as follows:
     263-285: DVDVVDPDEKSIMTYVAQFLQYS → DAWRSSALYRIYMPGTVSCASYL
     286-6885: Missing.

Note: Lacks the spectrin repeats and KASH domain.Curated
Show »
Length:285
Mass (Da):32,239
Checksum:iA0DDB990EFD42352
GO
Isoform 9 (identifier: Q8WXH0-9) [UniParc]FASTAAdd to basket
Also known as: NUANCE-N-33

The sequence of this isoform differs from the canonical sequence as follows:
     263-267: DVDVV → AYKNF
     268-6885: Missing.

Show »
Length:267
Mass (Da):30,270
Checksum:i0683CC937EBD8A92
GO
Isoform 10 (identifier: Q8WXH0-10) [UniParc]FASTAAdd to basket
Also known as: beta2

The sequence of this isoform differs from the canonical sequence as follows:
     1-6217: Missing.
     6801-6801: Missing.

Show »
Length:667
Mass (Da):75,575
Checksum:i4360B8E87CBAF34F
GO
Isoform 11 (identifier: Q8WXH0-11) [UniParc]FASTAAdd to basket
Also known as: FLJ56122

The sequence of this isoform differs from the canonical sequence as follows:
     1-6434: Missing.
     6435-6443: EEGPYYSAL → MTTKTLKAS

Show »
Length:451
Mass (Da):50,514
Checksum:i9D3AC64C19981BBD
GO
Isoform 12 (identifier: Q8WXH0-12) [UniParc]FASTAAdd to basket
Also known as: FLJ55476

The sequence of this isoform differs from the canonical sequence as follows:
     1-6366: Missing.
     6444-6444: S → SDVEIPENPEAYLKMTTKTLKASS

Show »
Length:542
Mass (Da):60,579
Checksum:iF3CE2D7DEECD9E78
GO
Isoform 13 (identifier: Q8WXH0-13) [UniParc]FASTAAdd to basket
Also known as: epsilon1, JAM28

The sequence of this isoform differs from the canonical sequence as follows:
     1-5850: Missing.
     5851-5852: IK → MQ

Note: Detected only in ovary and early embryonic cells.1 Publication
Show »
Length:1,035
Mass (Da):119,457
Checksum:i42C2471BD215BB37
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGK3A0A0C4DGK3_HUMAN
Nesprin-2
SYNE2
3,541Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5X4G3V5X4_HUMAN
Nesprin-2
SYNE2
6,818Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MRE3A0A0A0MRE3_HUMAN
Nesprin-2
SYNE2
6,824Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A669KBG2A0A669KBG2_HUMAN
Nesprin-2
SYNE2
1,089Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A669KBH2A0A669KBH2_HUMAN
Nesprin-2
SYNE2
639Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2Q0G3V2Q0_HUMAN
Nesprin-2
SYNE2
199Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4T3G3V4T3_HUMAN
Nesprin-2
SYNE2
1,127Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3D4G3V3D4_HUMAN
Nesprin-2
SYNE2
607Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A669KB61A0A669KB61_HUMAN
Nesprin-2
SYNE2
945Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5N1G3V5N1_HUMAN
Nesprin-2
SYNE2
214Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB84881 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAB45729 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAB55905 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti668Missing (PubMed:12408964).Curated1
Sequence conflicti1087M → T (PubMed:12408964).Curated1
Sequence conflicti3115F → S in AAL33548 (PubMed:12118075).Curated1
Sequence conflicti3193E → G in AAL33548 (PubMed:12118075).Curated1
Sequence conflicti3951Q → L in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4001W → Q in AAN60443 (PubMed:12408964).Curated1
Sequence conflicti4158S → F in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4158S → F (PubMed:12408964).Curated1
Sequence conflicti4209I → T in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4209I → T (PubMed:12408964).Curated1
Sequence conflicti4327E → Q in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4327E → Q (PubMed:12408964).Curated1
Sequence conflicti4418N → K in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4418N → K (PubMed:12408964).Curated1
Sequence conflicti4713E → G in AAL33548 (PubMed:12118075).Curated1
Sequence conflicti4733P → S in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4733P → S (PubMed:12408964).Curated1
Sequence conflicti4807N → I in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4807N → I (PubMed:12408964).Curated1
Sequence conflicti4826S → P in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4826S → P (PubMed:12408964).Curated1
Sequence conflicti5166E → D in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti5166E → D (PubMed:12408964).Curated1
Sequence conflicti5646T → A in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti5646T → A (PubMed:12408964).Curated1
Sequence conflicti5727K → R in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti5727K → R (PubMed:12408964).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0279478P → S. Corresponds to variant dbSNP:rs2275017EnsemblClinVar.1
Natural variantiVAR_050238432S → R. Corresponds to variant dbSNP:rs35554503Ensembl.1
Natural variantiVAR_027948574I → T. Corresponds to variant dbSNP:rs9944035EnsemblClinVar.1
Natural variantiVAR_0502391393R → W. Corresponds to variant dbSNP:rs17751301Ensembl.1
Natural variantiVAR_0502401969M → T1 PublicationCorresponds to variant dbSNP:rs4902264Ensembl.1
Natural variantiVAR_0502412284A → V1 PublicationCorresponds to variant dbSNP:rs4027402Ensembl.1
Natural variantiVAR_0502422347A → E. Corresponds to variant dbSNP:rs34625768Ensembl.1
Natural variantiVAR_0279492358N → S. Corresponds to variant dbSNP:rs4027404Ensembl.1
Natural variantiVAR_0502432359S → G. Corresponds to variant dbSNP:rs7157465Ensembl.1
Natural variantiVAR_0502442359S → N1 PublicationCorresponds to variant dbSNP:rs4027404Ensembl.1
Natural variantiVAR_0279502394A → T. Corresponds to variant dbSNP:rs4027405Ensembl.1
Natural variantiVAR_0502452395A → T1 PublicationCorresponds to variant dbSNP:rs4027405Ensembl.1
Natural variantiVAR_0502462490V → G. Corresponds to variant dbSNP:rs34393543EnsemblClinVar.1
Natural variantiVAR_0502472564I → V. Corresponds to variant dbSNP:rs11628107EnsemblClinVar.1
Natural variantiVAR_0279512801G → S. Corresponds to variant dbSNP:rs1890908Ensembl.1
Natural variantiVAR_0502482802S → G1 PublicationCorresponds to variant dbSNP:rs1890908Ensembl.1
Natural variantiVAR_0502492942I → V1 PublicationCorresponds to variant dbSNP:rs3829767Ensembl.1
Natural variantiVAR_0502503026E → D. Corresponds to variant dbSNP:rs34843668Ensembl.1
Natural variantiVAR_0502513130N → S. Corresponds to variant dbSNP:rs11847087Ensembl.1
Natural variantiVAR_0502523253D → H1 PublicationCorresponds to variant dbSNP:rs8010911Ensembl.1
Natural variantiVAR_0502533309H → R1 PublicationCorresponds to variant dbSNP:rs8010699Ensembl.1
Natural variantiVAR_0502543523K → Q. Corresponds to variant dbSNP:rs35203186Ensembl.1
Natural variantiVAR_0502553982N → H. Corresponds to variant dbSNP:rs10137972Ensembl.1
Natural variantiVAR_0502564041R → H. Corresponds to variant dbSNP:rs17101661Ensembl.1
Natural variantiVAR_0502574912P → A. Corresponds to variant dbSNP:rs17766354Ensembl.1
Natural variantiVAR_0502584913E → K. Corresponds to variant dbSNP:rs12881815Ensembl.1
Natural variantiVAR_0502595086H → Y. Corresponds to variant dbSNP:rs2039475EnsemblClinVar.1
Natural variantiVAR_0502605186L → M2 PublicationsCorresponds to variant dbSNP:rs10151658Ensembl.1
Natural variantiVAR_0502615547D → N. Corresponds to variant dbSNP:rs17179194EnsemblClinVar.1
Natural variantiVAR_0362555940V → I in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0502626155A → V. Corresponds to variant dbSNP:rs2275014Ensembl.1
Natural variantiVAR_0362566200Y → C in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0629776211T → M in EDMD5. 1 PublicationCorresponds to variant dbSNP:rs36215895EnsemblClinVar.1
Natural variantiVAR_0502636681K → E. Corresponds to variant dbSNP:rs35315070Ensembl.1
Natural variantiVAR_0502646697R → W. Corresponds to variant dbSNP:rs35700578Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0071581 – 6469Missing in isoform 6. 2 PublicationsAdd BLAST6469
Alternative sequenceiVSP_0574831 – 6434Missing in isoform 11. 1 PublicationAdd BLAST6434
Alternative sequenceiVSP_0071571 – 6366Missing in isoform 5 and isoform 12. 2 PublicationsAdd BLAST6366
Alternative sequenceiVSP_0574841 – 6217Missing in isoform 10. 1 PublicationAdd BLAST6217
Alternative sequenceiVSP_0071561 – 6122Missing in isoform 4. 1 PublicationAdd BLAST6122
Alternative sequenceiVSP_0071551 – 6030Missing in isoform 3. 1 PublicationAdd BLAST6030
Alternative sequenceiVSP_0574851 – 5850Missing in isoform 13. 1 PublicationAdd BLAST5850
Alternative sequenceiVSP_0071541 – 3638Missing in isoform 7. 1 PublicationAdd BLAST3638
Alternative sequenceiVSP_007161263 – 285DVDVV…FLQYS → DAWRSSALYRIYMPGTVSCA SYL in isoform 8. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_007159263 – 267DVDVV → AYKNF in isoform 9. 1 Publication5
Alternative sequenceiVSP_007160268 – 6885Missing in isoform 9. 1 PublicationAdd BLAST6618
Alternative sequenceiVSP_007162286 – 6885Missing in isoform 8. 1 PublicationAdd BLAST6600
Alternative sequenceiVSP_0071633828Q → QDSKCFRSGPRPNIYVSYYV TVIQ in isoform 7. 1 Publication1
Alternative sequenceiVSP_0574865851 – 5852IK → MQ in isoform 13. 1 Publication2
Alternative sequenceiVSP_0574876435 – 6443EEGPYYSAL → MTTKTLKAS in isoform 11. 1 Publication9
Alternative sequenceiVSP_0071646444S → SDVEIPENPEAYLKMTTKTL KASS in isoform 2, isoform 5 and isoform 12. 3 Publications1
Alternative sequenceiVSP_0071656664Q → QGSKTRPRSDVLFFK in isoform 5 and isoform 6. 2 Publications1
Alternative sequenceiVSP_0071666801Missing in isoform 2, isoform 6 and isoform 10. 3 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF435010 mRNA Translation: AAL33547.1
AF435011 mRNA Translation: AAL33548.1
AY061757 mRNA Translation: AAL33800.1
AY061758 mRNA Translation: AAL33801.1
AY061759 mRNA Translation: AAL33802.1
AY184204 mRNA Translation: AAO27772.1
AY184205 mRNA Translation: AAO27773.1
AF495911 mRNA Translation: AAN60443.1
JQ754367 mRNA Translation: AFN44385.1
AL117404 mRNA Translation: CAB55905.2 Different initiation.
AK074055 mRNA Translation: BAB84881.1 Different initiation.
AK090430 mRNA Translation: BAC03411.1
AK095241 mRNA Translation: BAC04506.1
AK297874 mRNA Translation: BAG60199.1
AK298465 mRNA Translation: BAG60678.1
AL162832 Genomic DNA No translation available.
AL355094 Genomic DNA No translation available.
AL359235 Genomic DNA No translation available.
BC042134 mRNA Translation: AAH42134.1
BC071873 mRNA Translation: AAH71873.1
BM805144 mRNA No translation available.
CD654909 mRNA No translation available.
AB023228 mRNA Translation: BAA76855.3
AL080133 mRNA Translation: CAB45729.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41963.1 [Q8WXH0-1]
CCDS45124.1 [Q8WXH0-5]
CCDS45125.1 [Q8WXH0-6]
CCDS9761.2 [Q8WXH0-2]

Protein sequence database of the Protein Information Resource

More...PIRi		T12520
T17215

NCBI Reference Sequences

More...RefSeqi		NP_055995.4, NM_015180.4 [Q8WXH0-1]
NP_878914.1, NM_182910.2 [Q8WXH0-6]
NP_878917.1, NM_182913.2 [Q8WXH0-5]
NP_878918.2, NM_182914.2 [Q8WXH0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000341472; ENSP00000344528; ENSG00000054654 [Q8WXH0-8]
ENST00000344113; ENSP00000341781; ENSG00000054654 [Q8WXH0-1]
ENST00000358025; ENSP00000350719; ENSG00000054654 [Q8WXH0-2]
ENST00000458046; ENSP00000391937; ENSG00000054654 [Q8WXH0-5]
ENST00000555002; ENSP00000450831; ENSG00000054654 [Q8WXH0-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23224

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23224

UCSC genome browser

More...UCSCi		uc001xgk.4, human [Q8WXH0-1]
uc001xgr.5, human

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF435010 mRNA Translation: AAL33547.1
AF435011 mRNA Translation: AAL33548.1
AY061757 mRNA Translation: AAL33800.1
AY061758 mRNA Translation: AAL33801.1
AY061759 mRNA Translation: AAL33802.1
AY184204 mRNA Translation: AAO27772.1
AY184205 mRNA Translation: AAO27773.1
AF495911 mRNA Translation: AAN60443.1
JQ754367 mRNA Translation: AFN44385.1
AL117404 mRNA Translation: CAB55905.2 Different initiation.
AK074055 mRNA Translation: BAB84881.1 Different initiation.
AK090430 mRNA Translation: BAC03411.1
AK095241 mRNA Translation: BAC04506.1
AK297874 mRNA Translation: BAG60199.1
AK298465 mRNA Translation: BAG60678.1
AL162832 Genomic DNA No translation available.
AL355094 Genomic DNA No translation available.
AL359235 Genomic DNA No translation available.
BC042134 mRNA Translation: AAH42134.1
BC071873 mRNA Translation: AAH71873.1
BM805144 mRNA No translation available.
CD654909 mRNA No translation available.
AB023228 mRNA Translation: BAA76855.3
AL080133 mRNA Translation: CAB45729.1 Different initiation.
CCDSiCCDS41963.1 [Q8WXH0-1]
CCDS45124.1 [Q8WXH0-5]
CCDS45125.1 [Q8WXH0-6]
CCDS9761.2 [Q8WXH0-2]
PIRiT12520
T17215
RefSeqiNP_055995.4, NM_015180.4 [Q8WXH0-1]
NP_878914.1, NM_182910.2 [Q8WXH0-6]
NP_878917.1, NM_182913.2 [Q8WXH0-5]
NP_878918.2, NM_182914.2 [Q8WXH0-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4DXSX-ray2.71B6857-6885[»]
4FI9X-ray3.05B6872-6885[»]
SMRiQ8WXH0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116830, 73 interactors
CORUMiQ8WXH0
DIPiDIP-53409N
ELMiQ8WXH0
IntActiQ8WXH0, 54 interactors
MINTiQ8WXH0
STRINGi9606.ENSP00000350719

PTM databases

CarbonylDBiQ8WXH0
GlyGeniQ8WXH0, 2 sites, 1 O-linked glycan (2 sites)
iPTMnetiQ8WXH0
PhosphoSitePlusiQ8WXH0
SwissPalmiQ8WXH0

Genetic variation databases

BioMutaiSYNE2
DMDMi116242809

Proteomic databases

EPDiQ8WXH0
jPOSTiQ8WXH0
MassIVEiQ8WXH0
MaxQBiQ8WXH0
PaxDbiQ8WXH0
PeptideAtlasiQ8WXH0
PRIDEiQ8WXH0
ProteomicsDBi70449
75044 [Q8WXH0-1]
75045 [Q8WXH0-2]
75046 [Q8WXH0-3]
75047 [Q8WXH0-4]
75048 [Q8WXH0-5]
75049 [Q8WXH0-6]
75050 [Q8WXH0-7]
75051 [Q8WXH0-8]
75052 [Q8WXH0-9]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		189, 170 antibodies

Genome annotation databases

EnsembliENST00000341472; ENSP00000344528; ENSG00000054654 [Q8WXH0-8]
ENST00000344113; ENSP00000341781; ENSG00000054654 [Q8WXH0-1]
ENST00000358025; ENSP00000350719; ENSG00000054654 [Q8WXH0-2]
ENST00000458046; ENSP00000391937; ENSG00000054654 [Q8WXH0-5]
ENST00000555002; ENSP00000450831; ENSG00000054654 [Q8WXH0-2]
GeneIDi23224
KEGGihsa:23224
UCSCiuc001xgk.4, human [Q8WXH0-1]
uc001xgr.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23224
DisGeNETi23224

GeneCards: human genes, protein and diseases

More...GeneCardsi		SYNE2
HGNCiHGNC:17084, SYNE2
HPAiENSG00000054654, Tissue enhanced (skeletal)
MalaCardsiSYNE2
MIMi608442, gene
612999, phenotype
neXtProtiNX_Q8WXH0
OpenTargetsiENSG00000054654
Orphaneti98853, Autosomal dominant Emery-Dreifuss muscular dystrophy
PharmGKBiPA128394613
VEuPathDBiHostDB:ENSG00000054654.15

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0516, Eukaryota
GeneTreeiENSGT00940000154656
HOGENOMiCLU_000034_2_0_1
InParanoidiQ8WXH0
OMAiWQTTYAL
PhylomeDBiQ8WXH0
TreeFamiTF329280

Enzyme and pathway databases

PathwayCommonsiQ8WXH0
ReactomeiR-HSA-1221632, Meiotic synapsis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		23224, 1 hit in 877 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SYNE2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SYNE2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		23224
PharosiQ8WXH0, Tbio

Protein Ontology

More...PROi		PR:Q8WXH0
RNActiQ8WXH0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000054654, Expressed in ventricular zone and 232 other tissues
ExpressionAtlasiQ8WXH0, baseline and differential
GenevisibleiQ8WXH0, HS

Family and domain databases

CDDicd00014, CH, 2 hits
Gene3Di1.10.418.10, 2 hits
InterProiView protein in InterPro
IPR001589, Actinin_actin-bd_CS
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR012315, KASH
IPR018159, Spectrin/alpha-actinin
IPR002017, Spectrin_repeat
IPR030266, SYNE2
PANTHERiPTHR47535:SF6, PTHR47535:SF6, 1 hit
PfamiView protein in Pfam
PF00307, CH, 2 hits
PF10541, KASH, 1 hit
PF00435, Spectrin, 3 hits
SMARTiView protein in SMART
SM00033, CH, 2 hits
SM01249, KASH, 1 hit
SM00150, SPEC, 18 hits
SUPFAMiSSF47576, SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS00019, ACTININ_1, 1 hit
PS00020, ACTININ_2, 1 hit
PS50021, CH, 2 hits
PS51049, KASH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYNE2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WXH0
Secondary accession number(s): B4DND7
, B4DPR6, I6XXQ5, Q540G1, Q86YP9, Q8N1S3, Q8NF49, Q8TER7, Q8WWW3, Q8WWW4, Q8WWW5, Q8WXH1, Q9NU50, Q9UFQ4, Q9Y2L4, Q9Y4R1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: October 17, 2006
Last modified: February 10, 2021
This is version 193 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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