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Gene

ACTA2

actin alpha 2, smooth muscle

Summary

Cytogenetic location
10q23.31
Coordinates
Chromosome 10: 88,935,074–88,952,773 (GRCh38)
Exons
9 exons across 17.7 kb
Protein
377 amino acids
Inheritance
Autosomal dominant
Also known as
ACTSA
MANE Select transcript
ENST00000224784.10NM_001613.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Aortic Aneurysm

    • Multisystemic Smooth Muscle Dysfunction SyndromeAutosomal dominant

      A range of conditions caused by changes in ACTA2 that can affect the aorta, brain arteries, pupils, gut and bladder.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Knowing about it supports aortic and brain blood vessel imaging.

    • Familial Thoracic Aortic Aneurysm and DissectionAutosomal dominant

      Inherited widening and tearing of the thoracic aorta, caused by changes in genes such as ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 and THSD4.

      • 1 GenCC submitter rates it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Knowing about it supports regular aortic imaging, blood pressure control and timely preventive surgery, and screening of relatives.

  • Moyamoya Disease

    • Progressive narrowing of the arteries at the base of the brain, linked to changes in RNF213 (a susceptibility gene with reduced penetrance, especially common in East Asian populations), ACTA2 or GUCY1A1, which can cause strokes or mini-strokes.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports early assessment of symptoms such as transient weakness, and access to specialist stroke prevention and surgical treatment.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ACTA2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 10, with a bracket where ACTA2 sits. ACTA2 and 17 genes near it on chromosome 10, from 88,443,924 to 89,443,923.Chromosome 1010q23.31p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.388.6 Mb88.8 Mb89 Mb89.2 Mb89.4 MbRNLS: 88,273,551–88,584,530, reverse strandRNLSLIPJ: 88,586,753–88,607,880, forward strandLIPJLIPF: 88,664,441–88,678,814, forward strandLIPFLIPK: 88,706,249–88,752,776, forward strandLIPKLIPN: 88,759,982–88,779,626, forward strandLIPNLIPM: 88,802,730–88,820,546, forward strandLIPMANKRD22: 88,819,896–88,851,940, reverse strandANKRD22STAMBPL1: 88,879,363–88,975,153, forward strandSTAMBPL1ACTA2: 88,935,074–88,952,773, reverse strandACTA2FAS: 88,953,813–89,029,605, forward strandFASCH25H: 89,205,629–89,207,317, reverse strandCH25HLIPA: 89,212,830–89,415,367, reverse strandLIPAIFIT2: 89,283,694–89,309,271, forward strandIFIT2IFIT3: 89,327,307–89,377,473, forward strandIFIT3IFIT1B: 89,378,050–89,385,205, forward strandIFIT1BIFIT1: 89,392,546–89,406,487, forward strandIFIT1IFIT5: 89,414,568–89,421,605, forward strandIFIT5SLC16A12: 89,430,174–89,556,701, reverse strandDiagram of ACTA2: 9 exons on the reverse strand of chromosome 10Exon 9: 2 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 9: 88,935,074–88,935,366, 293 basesExon 8: 88,938,061–88,938,242, 182 bases. 1 variant with a page in exon 8. List themExon 7: 88,939,507–88,939,698, 192 bases. 4 variants with a page in exon 7. List themExon 6: 88,941,229–88,941,390, 162 bases. 4 variants with a page in exon 6. List themExon 5: 88,941,785–88,941,869, 85 bases. 2 variants with a page in exon 5. List themExon 4: 88,943,797–88,943,907, 111 bases. 2 variants with a page in exon 4. List themExon 3: 88,947,258–88,947,386, 129 basesExon 2: 88,948,802–88,948,953, 152 bases. 2 variants with a page in exon 2. List themExon 1: 88,952,731–88,952,773, 43 bases9876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.3 kb of the gene's 17.7 kb; 1,134 of those bases code for the protein.

How a genome test reads ACTA2

43

positions in ACTA2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 17.7 kb of ACTA2, introns included, not only the 1.3 kb of exons.

Variants with a page (15)

The ACTA2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A140Vc.419C>TExon 588,941,820Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
G270Rc.808G>AExon 788,939,507Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R39Cc.115C>TExon 288,948,816Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R39Hc.116G>AExon 288,948,815Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R118Qc.353G>AExon 488,943,813Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R118Wc.352C>TExon 488,943,814Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R149Cc.445C>TExon 588,941,794Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R179Cc.535C>TExon 688,941,310Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R179Hc.536G>AExon 688,941,309Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R198Cc.592C>TExon 688,941,253Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 15 ACTA2 variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ACTA2 gene: actin alpha 2, smooth muscle. Retrieved 16 October 2026, from https://dantelabs.com/genes/acta2

Vancouver

Dante Labs. ACTA2 gene: actin alpha 2, smooth muscle [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/acta2

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