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Entry version 184 (16 Oct 2019)
Sequence version 3 (17 Oct 2006)
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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

GO - Biological processi

<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

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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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)

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MIMi
608442 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WXH0

<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_location_section">'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_location_section">'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 mutations 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_and_biotech_section">'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 mutation, 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

Polymorphism and mutation 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.<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_processing_section">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

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EPDi
Q8WXH0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8WXH0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8WXH0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8WXH0

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

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PaxDbi
Q8WXH0

PeptideAtlas

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PeptideAtlasi
Q8WXH0

PRoteomics IDEntifications database

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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

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CarbonylDBi
Q8WXH0

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8WXH0

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

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PhosphoSitePlusi
Q8WXH0

SwissPalm database of S-palmitoylation events

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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 221 organ(s), highest expression level in left ovary

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8WXH0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WXH0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003435
HPA050204

<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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116830, 50 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8WXH0

Database of interacting proteins

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DIPi
DIP-53409N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q8WXH0

Protein interaction database and analysis system

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IntActi
Q8WXH0, 52 interactors

Molecular INTeraction database

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MINTi
Q8WXH0

STRING: functional protein association networks

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STRINGi
9606.ENSP00000350719

<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

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SMRi
Q8WXH0

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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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_and_domains_section">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

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eggNOGi
KOG0516 Eukaryota
COG5069 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154656

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8WXH0

KEGG Orthology (KO)

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KOi
K19346

Identification of Orthologs from Complete Genome Data

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OMAi
WQTTYAL

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8WXH0

TreeFam database of animal gene trees

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TreeFami
TF329280

Family and domain databases

Conserved Domains Database

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CDDi
cd00014 CH, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.418.10, 2 hits

Integrated resource of protein families, domains and functional sites

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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

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PANTHERi
PTHR14514:SF4 PTHR14514:SF4, 1 hit

Pfam protein domain database

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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

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

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47576 SSF47576, 1 hit

PROSITE; a protein domain and family database

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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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 9 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.

Note: No experimental confirmation available.
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.
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.
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

Note: No experimental confirmation available.
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

Note: No experimental confirmation available.
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 9 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>
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>
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>
A0A1W2PRN9A0A1W2PRN9_HUMAN
Nesprin-2
SYNE2
99Annotation 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>
A0A1W2PS37A0A1W2PS37_HUMAN
Nesprin-2
SYNE2
16Annotation 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>

<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:rs35554503EnsemblClinVar.1
Natural variantiVAR_027948574I → T. Corresponds to variant dbSNP:rs9944035EnsemblClinVar.1
Natural variantiVAR_0502391393R → W. Corresponds to variant dbSNP:rs17751301EnsemblClinVar.1
Natural variantiVAR_0502401969M → T1 PublicationCorresponds to variant dbSNP:rs4902264EnsemblClinVar.1
Natural variantiVAR_0502412284A → V1 PublicationCorresponds to variant dbSNP:rs4027402EnsemblClinVar.1
Natural variantiVAR_0502422347A → E. Corresponds to variant dbSNP:rs34625768EnsemblClinVar.1
Natural variantiVAR_0279492358N → S. Corresponds to variant dbSNP:rs4027404EnsemblClinVar.1
Natural variantiVAR_0502432359S → G. Corresponds to variant dbSNP:rs7157465EnsemblClinVar.1
Natural variantiVAR_0502442359S → N1 PublicationCorresponds to variant dbSNP:rs4027404EnsemblClinVar.1
Natural variantiVAR_0279502394A → T. Corresponds to variant dbSNP:rs4027405EnsemblClinVar.1
Natural variantiVAR_0502452395A → T1 PublicationCorresponds to variant dbSNP:rs4027405EnsemblClinVar.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:rs1890908EnsemblClinVar.1
Natural variantiVAR_0502482802S → G1 PublicationCorresponds to variant dbSNP:rs1890908EnsemblClinVar.1
Natural variantiVAR_0502492942I → V1 PublicationCorresponds to variant dbSNP:rs3829767EnsemblClinVar.1
Natural variantiVAR_0502503026E → D. Corresponds to variant dbSNP:rs34843668EnsemblClinVar.1
Natural variantiVAR_0502513130N → S. Corresponds to variant dbSNP:rs11847087EnsemblClinVar.1
Natural variantiVAR_0502523253D → H1 PublicationCorresponds to variant dbSNP:rs8010911EnsemblClinVar.1
Natural variantiVAR_0502533309H → R1 PublicationCorresponds to variant dbSNP:rs8010699EnsemblClinVar.1
Natural variantiVAR_0502543523K → Q. Corresponds to variant dbSNP:rs35203186EnsemblClinVar.1
Natural variantiVAR_0502553982N → H. Corresponds to variant dbSNP:rs10137972EnsemblClinVar.1
Natural variantiVAR_0502564041R → H. Corresponds to variant dbSNP:rs17101661EnsemblClinVar.1
Natural variantiVAR_0502574912P → A. Corresponds to variant dbSNP:rs17766354EnsemblClinVar.1
Natural variantiVAR_0502584913E → K. Corresponds to variant dbSNP:rs12881815EnsemblClinVar.1
Natural variantiVAR_0502595086H → Y. Corresponds to variant dbSNP:rs2039475EnsemblClinVar.1
Natural variantiVAR_0502605186L → M2 PublicationsCorresponds to variant dbSNP:rs10151658EnsemblClinVar.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]
ENST00000639659; ENSP00000492333; ENSG00000054654 [Q8WXH0-6]

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, Polymorphism

<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, 50 interactors
CORUMiQ8WXH0
DIPiDIP-53409N
ELMiQ8WXH0
IntActiQ8WXH0, 52 interactors
MINTiQ8WXH0
STRINGi9606.ENSP00000350719

PTM databases

CarbonylDBiQ8WXH0
iPTMnetiQ8WXH0
PhosphoSitePlusiQ8WXH0
SwissPalmiQ8WXH0

Polymorphism and mutation 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]

Genome annotation databases

EnsembliENST00000341472; ENSP00000344528; ENSG00000054654 [Q8WXH0-8]
ENST00000344113; ENSP00000341781; ENSG00000054654 [Q8WXH0-1]
ENST00000358025; ENSP00000350719; ENSG00000054654 [Q8WXH0-2]
ENST00000458046; ENSP00000391937; ENSG00000054654 [Q8WXH0-5]
ENST00000639659; ENSP00000492333; ENSG00000054654 [Q8WXH0-6]
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
HPAiHPA003435
HPA050204
MalaCardsiSYNE2
MIMi608442 gene
612999 phenotype
neXtProtiNX_Q8WXH0
OpenTargetsiENSG00000054654
Orphaneti98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
PharmGKBiPA128394613

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0516 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00940000154656
InParanoidiQ8WXH0
KOiK19346
OMAiWQTTYAL
PhylomeDBiQ8WXH0
TreeFamiTF329280

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:Q8WXH0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000054654 Expressed in 221 organ(s), highest expression level in left ovary
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
PANTHERiPTHR14514:SF4 PTHR14514:SF4, 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_and_isoforms">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: October 16, 2019
This is version 184 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, Complete proteome, Reference proteome

Documents

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