U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ACTA2 actin alpha 2, smooth muscle [ Homo sapiens (human) ]

Gene ID: 59, updated on 17-Jun-2024

Summary

Official Symbol
ACTA2provided by HGNC
Official Full Name
actin alpha 2, smooth muscleprovided by HGNC
Primary source
HGNC:HGNC:130
See related
Ensembl:ENSG00000107796 MIM:102620; AllianceGenome:HGNC:130
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACTSA; SMDYS
Summary
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]
Expression
Broad expression in endometrium (RPKM 1285.0), prostate (RPKM 863.5) and 16 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ACTA2 in Genome Data Viewer
Location:
10q23.31
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (88935074..88991337, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (89819017..89875204, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90694831..90751154, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3727 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:90641731-90642930 Neighboring gene pentatricopeptide repeat domain 2 pseudogene 2 Neighboring gene STAM binding protein like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3731 Neighboring gene ACTA2 antisense RNA 1 Neighboring gene Fas cell surface death receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:90749708-90750219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:90750220-90750730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3733 Neighboring gene FAS antisense RNA 1 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in ACTA2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-09-28)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2022-09-28)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
EBI GWAS Catalog
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
EBI GWAS Catalog
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
EBI GWAS Catalog
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Gelsolin overexpression impairs HIV-1 gp120-induced cortical F-actin reorganization and capping and gp120-mediated CD4-CCR5 and CD4-CXCR4 redistribution in permissive lymphocytes PubMed
env The N-terminal leucine-rich repeat fragment of Slit2 inhibits HIV-1 gp120-induced actin polymerization in T cells PubMed
env HIV-1 gp120-CXCR4 signaling triggers cofilin activation and actin reorganization, which are important for a post entry process leading to viral nuclear localization PubMed
env Syntenin-1 is recruited toward HIV-1 gp120/gp41-driven virus/cell and cell/cell contacts, associates with CD4, limits HIV-1-induced cell fusion and viral entry, and modulates gp120/gp41-triggered actin polymerization and PIP2 accumulation PubMed
env HIV-1 X4-tropic gp120 upregulates alpha-SMA (ACTA2) and collagen I alpha 1 expression via the ERK1/2 pathway in a CXCR4-dependent manner in activated human hepatic stellate cells PubMed
env Inducible T-cell kinase (ITK) affects viral entry and gp120-induced actin reorganization PubMed
Envelope surface glycoprotein gp160, precursor env Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
Envelope transmembrane glycoprotein gp41 env Syntenin-1 is recruited toward HIV-1 gp120/gp41-driven virus/cell and cell/cell contacts, associates with CD4, limits HIV-1-induced cell fusion and viral entry, and modulates gp120/gp41-triggered actin polymerization and PIP2 accumulation PubMed
env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed
Nef nef HIV-1 NA7 and SF2 Nefs relocalizes ACTA1 and ACTB (F-actin); dependent upon the C-terminal aspartic acids in Nef PubMed
nef HIV-1 Nef co-localizes with F-actin and reorganizes F-actin assembly in the cortical regions of human podocyte PubMed
nef HIV-1 Nef inhibits CXCL12 induced chemotaxis in Jurkat cells, monocytes, and PBMCs, which leads to marked downregulation of F-actin accumulation in cells PubMed
nef HIV-1 Nef induces loss of F-actin assembly and inhibits retinoid receptor-mediated transcription PubMed
nef HIV-1 Nef requires a PAK2 recruitment motif (F195/191I) for inhibition of actin remodeling and induction of cofilin hyperphosphorylation PubMed
Pr55(Gag) gag Tec kinase chemical inhibitors diminish the recruitment of ITK to the plasma membrane perturbing HIV-1 Gag-ITK co-localization, disrupting F-actin polymerization, and inhibiting HIV-1 release and replication PubMed
gag HIV-1 Gag, ITK, and F-actin are located in overlapping and discrete regions of T cell-T cell contact sites PubMed
gag Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
gag HIV-1 Gag assembly and budding occur through an actin-driven mechanism PubMed
Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
tat Treatment of primary hippocampal neurons with HIV-1 Tat produces a significant early reduction in F-actin labeled puncta. The cysteine rich domain (residues 22-37) of Tat is required for Tat-mediated reduction of F-actin labeled puncta PubMed
tat Uptake of the HIV-1 Tat protein is regulated by arrangement of the actin cytoskeleton in epithelial cells PubMed
tat In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex PubMed
tat HIV-1 Tat induces actin cytoskeletal rearrangements through p21-activated kinase 1 (PAK1) and downstream activation of the endothelial NADPH oxidase, an effect that is lost by introduction of mutations into the Tat cysteine-rich or basic domains PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of actin, alpha 2 (ACTA2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
matrix gag The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules) PubMed
nucleocapsid gag HIV-1 NC-like aggregates are associated with dsDNA synthesis by HIV-1 RT and appear to efficiently bind to F-actin filaments, a property that may be involved in targeting complexes to the nuclear envelope PubMed
gag Mature HIV-1 Nucleocapsid, as well as the nucleocapsid domain of the HIV-1 Gag polyprotein, binds filamentous actin resulting in incorporation of actin into virus particles and enhancement of cell motility PubMed
retropepsin gag-pol Actin, one of the most abundant proteins of the cell, is hydrolyzed by the human immunodeficiency virus type 1 (HIV-1) protease during acute infection of cultured human T lymphocytes PubMed
gag-pol HIV-1 protease cleaves actin in vitro at amino acid residues 66-67, 94-95, and 126-127 PubMed
reverse transcriptase gag-pol HIV-1 NC-like aggregates are associated with dsDNA synthesis by HIV-1 RT and appear to efficiently bind to F-actin filaments, a property that may be involved in targeting complexes to the nuclear envelope PubMed
gag-pol The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in basement membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular space HDA PubMed 
located_in filopodium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in smooth muscle contractile fiber IEA
Inferred from Electronic Annotation
more info
 
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
actin, aortic smooth muscle
Names
actin, alpha 2, smooth muscle, aorta
alpha-cardiac actin
cell growth-inhibiting gene 46 protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011541.1 RefSeqGene

    Range
    5001..61317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_781

mRNA and Protein(s)

  1. NM_001141945.3NP_001135417.1  actin, aortic smooth muscle isoform 1

    See identical proteins and their annotated locations for NP_001135417.1

    Status: REVIEWED

    Source sequence(s)
    AL157394
    Consensus CDS
    CCDS7392.1
    UniProtKB/Swiss-Prot
    B2R8A4, P03996, P04108, P62736, Q6FI19
    UniProtKB/TrEMBL
    B3KW67, D2JYH4
    Related
    ENSP00000396730.2, ENST00000415557.2
    Conserved Domains (1) summary
    PTZ00281
    Location:3377
    PTZ00281; actin; Provisional
  2. NM_001320855.2NP_001307784.1  actin, aortic smooth muscle isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157394
    Consensus CDS
    CCDS7392.1
    UniProtKB/Swiss-Prot
    B2R8A4, P03996, P04108, P62736, Q6FI19
    UniProtKB/TrEMBL
    B3KW67, D2JYH4
    Related
    ENSP00000398239.2, ENST00000458159.6
    Conserved Domains (1) summary
    PTZ00281
    Location:3377
    PTZ00281; actin; Provisional
  3. NM_001406462.1NP_001393391.1  actin, aortic smooth muscle isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157394
    UniProtKB/Swiss-Prot
    B2R8A4, P03996, P04108, P62736, Q6FI19
    UniProtKB/TrEMBL
    B3KW67, D2JYH4
    Related
    ENSP00000518898.1, ENST00000713602.1
  4. NM_001406463.1NP_001393392.1  actin, aortic smooth muscle isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157394
    UniProtKB/Swiss-Prot
    B2R8A4, P03996, P04108, P62736, Q6FI19
    UniProtKB/TrEMBL
    B3KW67, D2JYH4
  5. NM_001406464.1NP_001393393.1  actin, aortic smooth muscle isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157394
    UniProtKB/Swiss-Prot
    B2R8A4, P03996, P04108, P62736, Q6FI19
    UniProtKB/TrEMBL
    B3KW67, D2JYH4
    Related
    ENSP00000518893.1, ENST00000713597.1
  6. NM_001406466.1NP_001393395.1  actin, aortic smooth muscle isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157394
    UniProtKB/TrEMBL
    B3KUD3
    Related
    ENSP00000518896.1, ENST00000713600.1
  7. NM_001406467.1NP_001393396.1  actin, aortic smooth muscle isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL157394
    UniProtKB/TrEMBL
    B4DW52
  8. NM_001406468.1NP_001393397.1  actin, aortic smooth muscle isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL157394
    UniProtKB/TrEMBL
    B4DW52
  9. NM_001406469.1NP_001393398.1  actin, aortic smooth muscle isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL157394
    UniProtKB/TrEMBL
    B4DW52
    Related
    ENSP00000518897.1, ENST00000713601.1
  10. NM_001406471.1NP_001393400.1  actin, aortic smooth muscle isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL157394
    UniProtKB/TrEMBL
    B3KW67
    Conserved Domains (1) summary
    cl17037
    Location:3313
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  11. NM_001613.4NP_001604.1  actin, aortic smooth muscle isoform 1

    See identical proteins and their annotated locations for NP_001604.1

    Status: REVIEWED

    Source sequence(s)
    BC093052, BP320140, BQ029841
    Consensus CDS
    CCDS7392.1
    UniProtKB/Swiss-Prot
    B2R8A4, P03996, P04108, P62736, Q6FI19
    UniProtKB/TrEMBL
    B3KW67, D2JYH4
    Related
    ENSP00000224784.6, ENST00000224784.10
    Conserved Domains (1) summary
    PTZ00281
    Location:3377
    PTZ00281; actin; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    88935074..88991337 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    89819017..89875204 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)