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Entry version 143 (16 Oct 2019)
Sequence version 1 (11 Oct 2004)
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Protein

Actin, gamma-enteric smooth muscle

Gene

ACTG2

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

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Miscellaneous

In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

<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 functionMuscle protein
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-445355 Smooth Muscle Contraction

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P63267

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P63267

<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:
Actin, gamma-enteric smooth muscle
Alternative name(s):
Alpha-actin-3
Gamma-2-actin
Smooth muscle gamma-actin
Cleaved into the following chain:
<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:ACTG2
Synonyms:ACTA3, ACTL3, ACTSG
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:145 ACTG2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
102545 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P63267

<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, Cytoskeleton

<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

Visceral myopathy (VSCM)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare inherited form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization.
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_07127940R → C in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777385EnsemblClinVar.1
Natural variantiVAR_07128040R → H in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777386EnsemblClinVar.1
Natural variantiVAR_07128145M → T in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309490EnsemblClinVar.1
Natural variantiVAR_07128263R → G in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309491EnsemblClinVar.1
Natural variantiVAR_071283110P → L in VSCM. 1 Publication1
Natural variantiVAR_071284134Y → N in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777388EnsemblClinVar.1
Natural variantiVAR_071285148R → S in VSCM. 2 PublicationsCorresponds to variant dbSNP:rs587777383EnsemblClinVar.1
Natural variantiVAR_071286178R → C in VSCM; interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. 2 PublicationsCorresponds to variant dbSNP:rs78001248EnsemblClinVar.1
Natural variantiVAR_071287178R → H in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777384EnsemblClinVar.1
Natural variantiVAR_071288178R → L in VSCM; interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. 1 PublicationCorresponds to variant dbSNP:rs587777384EnsemblClinVar.1
Natural variantiVAR_071289198G → D in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309492EnsemblClinVar.1
Natural variantiVAR_071290257R → C in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777387EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
72

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

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GeneReviewsi
ACTG2

MalaCards human disease database

More...
MalaCardsi
ACTG2
MIMi155310 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163017

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

More...
Orphaneti
2604 Familial visceral myopathy
2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
104077 Myopathic intestinal pseudoobstruction

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24469

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P63267

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ACTG2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
54036679

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved
<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_00004429492 – 376Actin, gamma-enteric smooth muscle, intermediate formBy similarityAdd BLAST375
ChainiPRO_00004429503 – 376Actin, gamma-enteric smooth muscleAdd BLAST374

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 residuei2N-acetylcysteine; in intermediate formBy similarity1
Modified residuei3N-acetylglutamate; in Actin, gamma-enteric smooth muscleCombined sources1
Modified residuei45Methionine (R)-sulfoxideBy similarity1
Modified residuei48Methionine (R)-sulfoxideBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki51Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-271); by Vibrio toxins RtxA and VgrG1By similarity
Modified residuei74Tele-methylhistidine1 Publication1
Cross-linki271Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-51); by Vibrio toxins RtxA and VgrG1By similarity

<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

Oxidation of Met-45 and Met-48 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.By similarity
Monomethylation at Lys-85 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.By similarity
Methylated at His-74 by SETD3.1 Publication
(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-51 of one monomer and Glu-271 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Oxidation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P63267

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P63267

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P63267

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

More...
PaxDbi
P63267

PeptideAtlas

More...
PeptideAtlasi
P63267

PRoteomics IDEntifications database

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PRIDEi
P63267

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
20231
57515 [P63267-1]

2D gel databases

USC-OGP 2-DE database

More...
OGPi
P12718

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P63267

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

More...
PhosphoSitePlusi
P63267

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P63267

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P63267

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163017 Expressed in 195 organ(s), highest expression level in myometrium

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P63267 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P63267 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041264
HPA041271

<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

Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106587, 20 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P63267

Protein interaction database and analysis system

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IntActi
P63267, 12 interactors

Molecular INTeraction database

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MINTi
P63267

STRING: functional protein association networks

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STRINGi
9606.ENSP00000386857

<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

3D structure databases

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

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SMRi
P63267

Database of comparative protein structure models

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ModBasei
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

<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 actin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0676 Eukaryota
COG5277 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154148

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000233340

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P63267

KEGG Orthology (KO)

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KOi
K12315

Identification of Orthologs from Complete Genome Data

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OMAi
FEYEMAT

Database of Orthologous Groups

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OrthoDBi
649708at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P63267

TreeFam database of animal gene trees

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TreeFami
TF354237

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004000 Actin
IPR020902 Actin/actin-like_CS
IPR004001 Actin_CS

The PANTHER Classification System

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PANTHERi
PTHR11937 PTHR11937, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00022 Actin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00190 ACTIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00268 ACTIN, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00406 ACTINS_1, 1 hit
PS00432 ACTINS_2, 1 hit
PS01132 ACTINS_ACT_LIKE, 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 (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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P63267-1) [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
MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQGVMVGMGQ
60 70 80 90 100
KDSYVGDEAQ SKRGILTLKY PIEHGIITNW DDMEKIWHHS FYNELRVAPE
110 120 130 140 150
EHPTLLTEAP LNPKANREKM TQIMFETFNV PAMYVAIQAV LSLYASGRTT
160 170 180 190 200
GIVLDSGDGV THNVPIYEGY ALPHAIMRLD LAGRDLTDYL MKILTERGYS
210 220 230 240 250
FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS YELPDGQVIT
260 270 280 290 300
IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL
310 320 330 340 350
SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL
360 370
STFQQMWISK PEYDEAGPSI VHRKCF
Length:376
Mass (Da):41,877
Last modified:October 11, 2004 - 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:i6EC08CD5EEAD445E
GO
Isoform 2 (identifier: P63267-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-85: Missing.

Note: No experimental confirmation available.
Show »
Length:333
Mass (Da):37,083
Checksum:i1D423B1372E4BFCD
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JFL5C9JFL5_HUMAN
Actin, gamma-enteric smooth muscle
ACTG2
144Annotation 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>
B8ZZJ2B8ZZJ2_HUMAN
Actin, gamma-enteric smooth muscle
ACTG2
119Annotation 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>
F8WB63F8WB63_HUMAN
Actin, gamma-enteric smooth muscle
ACTG2
105Annotation 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>
F8WCH0F8WCH0_HUMAN
Actin, gamma-enteric smooth muscle
ACTG2
52Annotation 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>

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 conflicti130V → F in CAG38753 (Ref. 4) Curated1
Sequence conflicti157G → C in BAG65327 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07127940R → C in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777385EnsemblClinVar.1
Natural variantiVAR_07128040R → H in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777386EnsemblClinVar.1
Natural variantiVAR_07128145M → T in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309490EnsemblClinVar.1
Natural variantiVAR_07128263R → G in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309491EnsemblClinVar.1
Natural variantiVAR_071283110P → L in VSCM. 1 Publication1
Natural variantiVAR_071284134Y → N in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777388EnsemblClinVar.1
Natural variantiVAR_071285148R → S in VSCM. 2 PublicationsCorresponds to variant dbSNP:rs587777383EnsemblClinVar.1
Natural variantiVAR_071286178R → C in VSCM; interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. 2 PublicationsCorresponds to variant dbSNP:rs78001248EnsemblClinVar.1
Natural variantiVAR_071287178R → H in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777384EnsemblClinVar.1
Natural variantiVAR_071288178R → L in VSCM; interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. 1 PublicationCorresponds to variant dbSNP:rs587777384EnsemblClinVar.1
Natural variantiVAR_071289198G → D in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309492EnsemblClinVar.1
Natural variantiVAR_071290257R → C in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777387EnsemblClinVar.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_04586143 – 85Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X16940 mRNA Translation: CAA34814.1
D00654 Genomic DNA Translation: BAA00546.1
AK304523 mRNA Translation: BAG65327.1
AK312955 mRNA Translation: BAG35794.1
CR536515 mRNA Translation: CAG38753.1
CR541794 mRNA Translation: CAG46593.1
AC073046 Genomic DNA Translation: AAX88909.1
CH471053 Genomic DNA Translation: EAW99713.1
BC012617 mRNA Translation: AAH12617.1
BC094877 mRNA Translation: AAH94877.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1930.1 [P63267-1]
CCDS56124.1 [P63267-2]

Protein sequence database of the Protein Information Resource

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PIRi
A40261

NCBI Reference Sequences

More...
RefSeqi
NP_001186822.1, NM_001199893.1 [P63267-2]
NP_001606.1, NM_001615.3 [P63267-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000345517; ENSP00000295137; ENSG00000163017 [P63267-1]
ENST00000409624; ENSP00000386857; ENSG00000163017 [P63267-1]
ENST00000409731; ENSP00000386929; ENSG00000163017 [P63267-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
72

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:72

UCSC genome browser

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UCSCi
uc002sjw.4 human [P63267-1]

Keywords - Coding sequence diversityi

Alternative splicing

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X16940 mRNA Translation: CAA34814.1
D00654 Genomic DNA Translation: BAA00546.1
AK304523 mRNA Translation: BAG65327.1
AK312955 mRNA Translation: BAG35794.1
CR536515 mRNA Translation: CAG38753.1
CR541794 mRNA Translation: CAG46593.1
AC073046 Genomic DNA Translation: AAX88909.1
CH471053 Genomic DNA Translation: EAW99713.1
BC012617 mRNA Translation: AAH12617.1
BC094877 mRNA Translation: AAH94877.1
CCDSiCCDS1930.1 [P63267-1]
CCDS56124.1 [P63267-2]
PIRiA40261
RefSeqiNP_001186822.1, NM_001199893.1 [P63267-2]
NP_001606.1, NM_001615.3 [P63267-1]

3D structure databases

SMRiP63267
ModBaseiSearch...

Protein-protein interaction databases

BioGridi106587, 20 interactors
CORUMiP63267
IntActiP63267, 12 interactors
MINTiP63267
STRINGi9606.ENSP00000386857

PTM databases

iPTMnetiP63267
PhosphoSitePlusiP63267
SwissPalmiP63267

Polymorphism and mutation databases

BioMutaiACTG2
DMDMi54036679

2D gel databases

OGPiP12718

Proteomic databases

jPOSTiP63267
MassIVEiP63267
MaxQBiP63267
PaxDbiP63267
PeptideAtlasiP63267
PRIDEiP63267
ProteomicsDBi20231
57515 [P63267-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
72

Genome annotation databases

EnsembliENST00000345517; ENSP00000295137; ENSG00000163017 [P63267-1]
ENST00000409624; ENSP00000386857; ENSG00000163017 [P63267-1]
ENST00000409731; ENSP00000386929; ENSG00000163017 [P63267-2]
GeneIDi72
KEGGihsa:72
UCSCiuc002sjw.4 human [P63267-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
72
DisGeNETi72

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ACTG2
GeneReviewsiACTG2
HGNCiHGNC:145 ACTG2
HPAiHPA041264
HPA041271
MalaCardsiACTG2
MIMi102545 gene
155310 phenotype
neXtProtiNX_P63267
OpenTargetsiENSG00000163017
Orphaneti2604 Familial visceral myopathy
2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
104077 Myopathic intestinal pseudoobstruction
PharmGKBiPA24469

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00940000154148
HOGENOMiHOG000233340
InParanoidiP63267
KOiK12315
OMAiFEYEMAT
OrthoDBi649708at2759
PhylomeDBiP63267
TreeFamiTF354237

Enzyme and pathway databases

ReactomeiR-HSA-445355 Smooth Muscle Contraction
SignaLinkiP63267
SIGNORiP63267

Miscellaneous databases

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

More...
ChiTaRSi
ACTG2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ACTG2

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

More...
GenomeRNAii
72
PharosiP63267
PMAP-CutDBiP63267

Protein Ontology

More...
PROi
PR:P63267

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163017 Expressed in 195 organ(s), highest expression level in myometrium
ExpressionAtlasiP63267 baseline and differential
GenevisibleiP63267 HS

Family and domain databases

InterProiView protein in InterPro
IPR004000 Actin
IPR020902 Actin/actin-like_CS
IPR004001 Actin_CS
PANTHERiPTHR11937 PTHR11937, 1 hit
PfamiView protein in Pfam
PF00022 Actin, 1 hit
PRINTSiPR00190 ACTIN
SMARTiView protein in SMART
SM00268 ACTIN, 1 hit
PROSITEiView protein in PROSITE
PS00406 ACTINS_1, 1 hit
PS00432 ACTINS_2, 1 hit
PS01132 ACTINS_ACT_LIKE, 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 nameiACTH_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: P63267
Secondary accession number(s): B2R7E7
, B4E315, D6W5H8, E9PG30, P12718, Q504R1, Q6FI22
<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: October 11, 2004
Last sequence update: October 11, 2004
Last modified: October 16, 2019
This is version 143 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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