ACTA2
Actin, aortic smooth muscle
Also known as: ACTA_HUMAN, ACTSA
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P62736
- Gene
- ACTA2
- Ensembl
- ENSG00000107796
- Chromosome
- 10
- Canonical length
- 377 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Actin filaments
OverviewNCBI Gene
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
Canonical amino-acid sequenceUniProt
377 residues, UniProt reviewed canonical sequence.
>P62736|ACTA2
1 MCEEEDSTAL VCDNGSGLCK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA
61 QSKRGILTLK YPIEHGIITN WDDMEKIWHH SFYNELRVAP EEHPTLLTEA PLNPKANREK
121 MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL
181 DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK
241 SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV
301 LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIS
361 KQEYDEAGPS IVHRKCFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACTA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 10,510 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 10,510 nTPM
- smooth muscle: 7,564 nTPM
- endometrium: 5,918 nTPM
- seminal vesicle: 5,570 nTPM
- fallopian tube: 3,776 nTPM
- urinary bladder: 3,162 nTPM
Single-cell type
- hepatic stellate cells: 7,862 nCPM
- smooth muscle cells: 7,700 nCPM
- decidual stromal cells: 5,619 nCPM
- vascular smooth muscle cells: 5,257 nCPM
- peritubular myoid cells: 4,824 nCPM
- breast myoepithelial cells: 4,005 nCPM
Immune cell
- T-reg: 59 nTPM
- basophil: 28 nTPM
- memory CD8 T-cell: 20 nTPM
- eosinophil: 18 nTPM
- gdT-cell: 18 nTPM
- non-classical monocyte: 14 nTPM
Brain region
- cerebral cortex: 60 nTPM
- choroid plexus: 36 nTPM
- basal ganglia: 36 nTPM
- medulla oblongata: 32 nTPM
- thalamus: 26 nTPM
- midbrain: 25 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ACTA2.
Disease | AllUniProt
Conditions ACTA2 is implicated in, by any mechanism.
- Aortic aneurysm, familial thoracic 6 (AAT6) MIM:611788
- Moyamoya disease 5 (MYMY5) MIM:614042
- Smooth muscle dysfunction syndrome (SMDYS) MIM:613834
Disease | GeneticClinVar
39 pathogenic / likely-pathogenic of 723 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Aortic aneurysm, familial thoracic 6
- Familial thoracic aortic aneurysm and aortic dissection
- Multisystemic smooth muscle dysfunction syndrome
- Moyamoya disease 5
- Familial aortopathy
Disease | ImmuneIEDB
Conditions an epitope on ACTA2 was assayed in.
- multiple sclerosis B cell
- hepatocellular carcinoma T cell
- onchocerciasis B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.36
- gnomAD pLI
- 0.93
- gnomAD missense Z
- 3.2
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to transforming growth factor beta stimulus
- glomerular mesangial cell development
- juxtaglomerular apparatus development
- mesenchyme migration
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of gene expression
- positive regulation of hepatic stellate cell activation
- positive regulation of hepatic stellate cell migration
- regulation of blood pressure
- response to virus
- vascular associated smooth muscle contraction
- positive regulation of hepatic stellate cell contraction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ACTA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ACTA2 as an antibody target. Whether an autoantibody or antibody against ACTA2 could matter depends on whether native ACTA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACTA2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ACTA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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