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UniProtKB - P35609 (ACTN2_HUMAN)

Entry version 216 (16 Oct 2019)
Sequence version 1 (01 Jun 1994)
Previous versions | rss
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Protein

Alpha-actinin-2

Gene

ACTN2

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

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi766 – 7771; possibly ancestralAdd BLAST12
Calcium bindingi802 – 8132; possibly ancestralAdd BLAST12

<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
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-114608 Platelet degranulation
R-HSA-373753 Nephrin family interactions
R-HSA-390522 Striated Muscle Contraction
R-HSA-438066 Unblocking of NMDA receptors, glutamate binding and activation
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-9609736 Assembly and cell surface presentation of NMDA receptors
R-HSA-9617324 Negative regulation of NMDA receptor-mediated neuronal transmission
R-HSA-9620244 Long-term potentiation

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.66.1.3 the dystrophin (dystrophin) family

<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:
Alpha-actinin-2
Alternative name(s):
Alpha-actinin skeletal muscle isoform 2
F-actin cross-linking protein
<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:ACTN2
<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 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_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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:164 ACTN2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		102573 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P35609

<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

Keywords - Cellular componenti

Cytoplasm

<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

Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
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_071970119A → T in CMH23 and CMD1AA. 2 PublicationsCorresponds to variant dbSNP:rs727502886EnsemblClinVar.1
Natural variantiVAR_074292228M → T in CMH23. 1 PublicationCorresponds to variant dbSNP:rs786205144EnsemblClinVar.1
Natural variantiVAR_071971495T → M in CMH23. 1 PublicationCorresponds to variant dbSNP:rs200248944EnsemblClinVar.1
Natural variantiVAR_071972583E → A in CMH23. 1 PublicationCorresponds to variant dbSNP:rs200631005Ensembl.1
Natural variantiVAR_071973628E → G in CMH23. 1 PublicationCorresponds to variant dbSNP:rs786204951EnsemblClinVar.1
Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0546289Q → R in CMD1AA. 1 PublicationCorresponds to variant dbSNP:rs121434525EnsemblClinVar.1
Natural variantiVAR_071970119A → T in CMH23 and CMD1AA. 2 PublicationsCorresponds to variant dbSNP:rs727502886EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		88

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ACTN2

MalaCards human disease database

More...MalaCardsi		ACTN2
MIMi612158 phenotype

Open Targets

More...OpenTargetsi		ENSG00000077522

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

More...Orphaneti		154 Familial isolated dilated cardiomyopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P35609

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ACTN2

Domain mapping of disease mutations (DMDM)

More...DMDMi		543742

<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_00000734351 – 894Alpha-actinin-2Add BLAST894

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 residuei237PhosphothreonineBy similarity1

<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

Ubiquitinated by FBXL22, leading to proteasomal degradation.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P35609

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P35609

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P35609

MaxQB - The MaxQuant DataBase

More...MaxQBi		P35609

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

More...PaxDbi		P35609

PeptideAtlas

More...PeptideAtlasi		P35609

PRoteomics IDEntifications database

More...PRIDEi		P35609

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3424
55100 [P35609-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P35609

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

More...PhosphoSitePlusi		P35609

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P35609

<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

Expressed in both skeletal and cardiac muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000077522 Expressed in 169 organ(s), highest expression level in muscle of leg

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P35609 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P35609 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA006035
HPA008315

<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

Homodimer; antiparallel. Also forms heterodimers with ACTN3.

Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3.

Interacts via its C-terminal region with the LDB3 PDZ domain.

Interacts with XIRP2.

Interacts with DST isoform 1 (via N-terminus).

Interacts with PARVB.

Interacts with SYNPO2.

8 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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		106603, 86 interactors

Database of interacting proteins

More...DIPi		DIP-383N

Protein interaction database and analysis system

More...IntActi		P35609, 86 interactors

Molecular INTeraction database

More...MINTi		P35609

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000443495

<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

1894
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		P35609

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P35609

<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>Domaini38 – 142Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini151 – 257Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST107
<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>Repeati281 – 391Spectrin 1Add BLAST111
Repeati401 – 506Spectrin 2Add BLAST106
Repeati516 – 627Spectrin 3Add BLAST112
Repeati637 – 740Spectrin 4Add BLAST104
Domaini753 – 788EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini789 – 824EF-hand 2PROSITE-ProRule annotationAdd BLAST36

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 – 254Actin-bindingAdd BLAST254

<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 alpha-actinin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0035 Eukaryota
COG5069 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153968

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000263418

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P35609

KEGG Orthology (KO)

More...KOi		K21073

Identification of Orthologs from Complete Genome Data

More...OMAi		CIMRMPP

Database of Orthologous Groups

More...OrthoDBi		614199at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P35609

TreeFam database of animal gene trees

More...TreeFami		TF352676

Family and domain databases

Conserved Domains Database

More...CDDi		cd00014 CH, 2 hits
cd00051 EFh, 1 hit

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
IPR011992 EF-hand-dom_pair
IPR014837 EF-hand_Ca_insen
IPR002048 EF_hand_dom
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00307 CH, 2 hits
PF08726 EFhand_Ca_insen, 1 hit
PF00435 Spectrin, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00033 CH, 2 hits
SM00054 EFh, 2 hits
SM00150 SPEC, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473 SSF47473, 1 hit
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
PS50222 EF_HAND_2, 2 hits

<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 (2+)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 2 <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 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P35609-1) [UniParc]FASTAAdd to basket

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
MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS 
        60         70         80         90        100
HLRKAGTQIE NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV 
       110        120        130        140        150
NKALDYIASK GVKLVSIGAE EIVDGNVKMT LGMIWTIILR FAIQDISVEE 
       160        170        180        190        200
TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW KDGLGLCALI HRHRPDLIDY 
       210        220        230        240        250
SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP DERAIMTYVS 
       260        270        280        290        300
CFYHAFAGAE QAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT 
       310        320        330        340        350
IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT 
       360        370        380        390        400
KLRISNRPAF MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERLE 
       410        420        430        440        450
HLAEKFRQKA STHETWAYGK EQILLQKDYE SASLTEVRAL LRKHEAFESD 
       460        470        480        490        500
LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN DRCQKICDQW DRLGTLTQKR 
       510        520        530        540        550
REALERMEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ DMFIVHSIEE 
       560        570        580        590        600
IQSLITAHEQ FKATLPEADG ERQSIMAIQN EVEKVIQSYN IRISSSNPYS 
       610        620        630        640        650
TVTMDELRTK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG 
       660        670        680        690        700
PWIQNKMEEI ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ 
       710        720        730        740        750
LIQEALVFDN KHTNYTMEHI RVGWELLLTT IARTINEVET QILTRDAKGI 
       760        770        780        790        800
TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA CLISMGYDLG EAEFARIMTL 
       810        820        830        840        850
VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS DKPYILAEEL 
       860        870        880        890 
RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YAAFSSALYG ESDL
Length:894
Mass (Da):103,854
Last modified:June 1, 1994 - v1
<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:i7F612C1C3B3E2299
GO
Isoform 2 (identifier: P35609-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     234-261: IVNTPKPDERAIMTYVSCFYHAFAGAEQ → LVYTARPDERAIMTYVSCYYHAFAGAQK

Note: No experimental confirmation available.
Show »
Length:894
Mass (Da):103,920
Checksum:iBA180F6305E25A8D
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A494C1A0A0A494C1A0_HUMAN
Alpha-actinin-2
ACTN2
858Annotation 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>
F6THM6F6THM6_HUMAN
Alpha-actinin-2
ACTN2
686Annotation 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>
A0A494C060A0A494C060_HUMAN
Alpha-actinin-2
ACTN2
588Annotation 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>
A0A494C033A0A494C033_HUMAN
Alpha-actinin-2
ACTN2
182Annotation 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>
A0A494C0Q3A0A494C0Q3_HUMAN
Alpha-actinin-2
ACTN2
131Annotation 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>
A0A494C166A0A494C166_HUMAN
Alpha-actinin-2
ACTN2
263Annotation 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>
A0A494C031A0A494C031_HUMAN
Alpha-actinin-2
ACTN2
61Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0546289Q → R in CMD1AA. 1 PublicationCorresponds to variant dbSNP:rs121434525EnsemblClinVar.1
Natural variantiVAR_071970119A → T in CMH23 and CMD1AA. 2 PublicationsCorresponds to variant dbSNP:rs727502886EnsemblClinVar.1
Natural variantiVAR_074292228M → T in CMH23. 1 PublicationCorresponds to variant dbSNP:rs786205144EnsemblClinVar.1
Natural variantiVAR_071971495T → M in CMH23. 1 PublicationCorresponds to variant dbSNP:rs200248944EnsemblClinVar.1
Natural variantiVAR_071972583E → A in CMH23. 1 PublicationCorresponds to variant dbSNP:rs200631005Ensembl.1
Natural variantiVAR_033487604M → V1 PublicationCorresponds to variant dbSNP:rs35997569EnsemblClinVar.1
Natural variantiVAR_071973628E → G in CMH23. 1 PublicationCorresponds to variant dbSNP:rs786204951EnsemblClinVar.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_054923234 – 261IVNTP…AGAEQ → LVYTARPDERAIMTYVSCYY HAFAGAQK in isoform 2. 1 PublicationAdd BLAST28

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
M86406 mRNA Translation: AAA51583.1
M86804 Genomic DNA Translation: AAA51584.1
AJ249756
, AJ249757, AJ249758, AJ249759, AJ249760, AJ249761, AJ249762, AJ249763, AJ249764, AJ249765, AJ249766, AJ249767, AJ249768, AJ249769, AJ249770, AJ249771, AJ249772, AJ249773, AJ249774, AJ249775, AJ249776 Genomic DNA Translation: CAB61269.1
AK315250 mRNA Translation: BAG37672.1
AL359185 Genomic DNA No translation available.
AL359921 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW70064.1
CH471098 Genomic DNA Translation: EAW70065.1
BC047901 mRNA Translation: AAH47901.2
BC051770 mRNA Translation: AAH51770.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1613.1 [P35609-1]
CCDS60455.1 [P35609-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A40199 FAHUA2

NCBI Reference Sequences

More...RefSeqi		NP_001094.1, NM_001103.3 [P35609-1]
NP_001265272.1, NM_001278343.1 [P35609-2]
NP_001265273.1, NM_001278344.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000366578; ENSP00000355537; ENSG00000077522 [P35609-1]
ENST00000542672; ENSP00000443495; ENSG00000077522 [P35609-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		88

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:88

UCSC genome browser

More...UCSCi		uc001hyf.4 human [P35609-1]

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
M86406 mRNA Translation: AAA51583.1
M86804 Genomic DNA Translation: AAA51584.1
AJ249756
, AJ249757, AJ249758, AJ249759, AJ249760, AJ249761, AJ249762, AJ249763, AJ249764, AJ249765, AJ249766, AJ249767, AJ249768, AJ249769, AJ249770, AJ249771, AJ249772, AJ249773, AJ249774, AJ249775, AJ249776 Genomic DNA Translation: CAB61269.1
AK315250 mRNA Translation: BAG37672.1
AL359185 Genomic DNA No translation available.
AL359921 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW70064.1
CH471098 Genomic DNA Translation: EAW70065.1
BC047901 mRNA Translation: AAH47901.2
BC051770 mRNA Translation: AAH51770.2
CCDSiCCDS1613.1 [P35609-1]
CCDS60455.1 [P35609-2]
PIRiA40199 FAHUA2
RefSeqiNP_001094.1, NM_001103.3 [P35609-1]
NP_001265272.1, NM_001278343.1 [P35609-2]
NP_001265273.1, NM_001278344.1

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
1H8BNMR-A822-894[»]
1HCIX-ray2.80A/B274-746[»]
1QUUX-ray2.50A391-637[»]
4D1EX-ray3.50A19-894[»]
5A36X-ray2.00A/B19-266[»]
5A37X-ray1.88A/B19-266[»]
5A38X-ray1.90A/B19-266[»]
5A4BX-ray2.01A/B19-266[»]
SMRiP35609
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi106603, 86 interactors
DIPiDIP-383N
IntActiP35609, 86 interactors
MINTiP35609
STRINGi9606.ENSP00000443495

Protein family/group databases

TCDBi8.A.66.1.3 the dystrophin (dystrophin) family

PTM databases

iPTMnetiP35609
PhosphoSitePlusiP35609
SwissPalmiP35609

Polymorphism and mutation databases

BioMutaiACTN2
DMDMi543742

Proteomic databases

EPDiP35609
jPOSTiP35609
MassIVEiP35609
MaxQBiP35609
PaxDbiP35609
PeptideAtlasiP35609
PRIDEiP35609
ProteomicsDBi3424
55100 [P35609-1]

Genome annotation databases

EnsembliENST00000366578; ENSP00000355537; ENSG00000077522 [P35609-1]
ENST00000542672; ENSP00000443495; ENSG00000077522 [P35609-2]
GeneIDi88
KEGGihsa:88
UCSCiuc001hyf.4 human [P35609-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		88
DisGeNETi88

GeneCards: human genes, protein and diseases

More...GeneCardsi		ACTN2
GeneReviewsiACTN2
HGNCiHGNC:164 ACTN2
HPAiHPA006035
HPA008315
MalaCardsiACTN2
MIMi102573 gene
612158 phenotype
neXtProtiNX_P35609
OpenTargetsiENSG00000077522
Orphaneti154 Familial isolated dilated cardiomyopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA25

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0035 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00940000153968
HOGENOMiHOG000263418
InParanoidiP35609
KOiK21073
OMAiCIMRMPP
OrthoDBi614199at2759
PhylomeDBiP35609
TreeFamiTF352676

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-373753 Nephrin family interactions
R-HSA-390522 Striated Muscle Contraction
R-HSA-438066 Unblocking of NMDA receptors, glutamate binding and activation
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-9609736 Assembly and cell surface presentation of NMDA receptors
R-HSA-9617324 Negative regulation of NMDA receptor-mediated neuronal transmission
R-HSA-9620244 Long-term potentiation

Miscellaneous databases

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

More...ChiTaRSi		ACTN2 human
EvolutionaryTraceiP35609

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Actinin,_alpha_2

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

More...GenomeRNAii		88
PharosiP35609

Protein Ontology

More...PROi		PR:P35609

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000077522 Expressed in 169 organ(s), highest expression level in muscle of leg
ExpressionAtlasiP35609 baseline and differential
GenevisibleiP35609 HS

Family and domain databases

CDDicd00014 CH, 2 hits
cd00051 EFh, 1 hit
Gene3Di1.10.418.10, 2 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR011992 EF-hand-dom_pair
IPR014837 EF-hand_Ca_insen
IPR002048 EF_hand_dom
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF08726 EFhand_Ca_insen, 1 hit
PF00435 Spectrin, 4 hits
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00054 EFh, 2 hits
SM00150 SPEC, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS50222 EF_HAND_2, 2 hits

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 nameiACTN2_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: P35609
Secondary accession number(s): B1ANE4
, B2RCS5, Q86TF4, Q86TI8
<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: June 1, 1994
Last sequence update: June 1, 1994
Last modified: October 16, 2019
This is version 216 of the entry and version 1 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 1
    Human chromosome 1: 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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