Seroatlas · Human Serome Atlas

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 IVHRKCF

LocalizationUniProt · 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.

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 723 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on ACTA2 was assayed in.

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

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.

Canonical record: https://seroatlas.com/gene/ACTA2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

Loading the interactive Seroatlas protein explorer...