ACTA2

actin alpha 2, smooth muscle

3 disorders 2 untyped 1 causative 10q23.31 gene with protein product

HGNC:130 Monarch NCBI Gene 59 ENSG00000107796 UniProt P62736 OMIM 102620

Aliases: ACTSA.

Normal function · from ai-gene-review (P62736, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Familial Thoracic Aortic Aneurysm and Aortic Dissection	causative germline	mechanism: Vascular smooth muscle contractile apparatus disruption subtype: ACTA2-related scoped to subtype: ACTA2-related
Marfan Syndrome	untyped Implicated
Multisystemic smooth muscle dysfunction syndrome	untyped Causal gene	mechanism: Smooth muscle contractile apparatus dysfunction

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
multisystemic smooth muscle dysfunction syndrome MONDO:0013452	AD	Definitive 2025-01-24	Multisystemic smooth muscle dysfunction syndrome untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.