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

    Gene ID: 59, updated on 3-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (88935074..88991337, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (89819017..89875204, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90694831..90751094, 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 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
      A0AAQ5BGI6, 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
      A0AAQ5BGG7, B4DW52
    8. NM_001406468.1NP_001393397.1  actin, aortic smooth muscle isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL157394
      UniProtKB/TrEMBL
      A0AAQ5BGG7, B4DW52
    9. NM_001406469.1NP_001393398.1  actin, aortic smooth muscle isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL157394
      UniProtKB/TrEMBL
      A0AAQ5BGG7, 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_2024_08

    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)