Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 59
MIM: 102620
HGNC: 130
Ensembl: ENSG00000107796
Variants:
dbSNP: 59
ClinVar: 59
TCGA: ENSG00000107796
COSMIC: ACTA2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000107796 | ENST00000224784 | P62736 |
| ENSG00000107796 | ENST00000224784 | D2JYH4 |
| ENSG00000107796 | ENST00000415557 | F6QUT6 |
| ENSG00000107796 | ENST00000458159 | F6UVQ4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA161907438 | Thoracic Aortic Aneurysms and Dissections (TAAD) | Disease | DataAnnotation | associated | |||
| PA166123310 | loeys-dietz syndrome | Disease | DataAnnotation | associated | |||
| PA28016 | FBN1 | Gene | DataAnnotation | associated | |||
| PA30526 | SMAD3 | Gene | DataAnnotation | associated | |||
| PA31367 | MYH11 | Gene | DataAnnotation | associated | |||
| PA31388 | MYLK | Gene | DataAnnotation | associated | |||
| PA36485 | TGFBR1 | Gene | DataAnnotation | associated | |||
| PA36486 | TGFBR2 | Gene | DataAnnotation | associated | |||
| PA444880 | Marfan Syndrome | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38316882 | 2024 | Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model. | 0 |
| 38316882 | 2024 | Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model. | 0 |
| 36508166 | 2023 | ACTA2 Expression Predicts Survival and Is Associated with Response to Immune Checkpoint Inhibitors in Gastric Cancer. | 6 |
| 37138522 | 2023 | Comprehensive management of type A acute aortic dissection in the paediatric population with ACTA 2 mutation: case reports and literature review of paediatric aortic dissection. | 0 |
| 37982465 | 2023 | A Comparative Study of CD56 and Smooth Muscle Actin Expression in Basal and Squamous Cell Carcinomas. | 0 |
| 38044429 | 2023 | A highly penetrant ACTA2 mutation of thoracic aortic disease. | 0 |
| 36508166 | 2023 | ACTA2 Expression Predicts Survival and Is Associated with Response to Immune Checkpoint Inhibitors in Gastric Cancer. | 6 |
| 37138522 | 2023 | Comprehensive management of type A acute aortic dissection in the paediatric population with ACTA 2 mutation: case reports and literature review of paediatric aortic dissection. | 0 |
| 37982465 | 2023 | A Comparative Study of CD56 and Smooth Muscle Actin Expression in Basal and Squamous Cell Carcinomas. | 0 |
| 38044429 | 2023 | A highly penetrant ACTA2 mutation of thoracic aortic disease. | 0 |
| 34857515 | 2022 | ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development. | 1 |
| 35420309 | 2022 | Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy. | 0 |
| 35567597 | 2022 | Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome. | 3 |
| 36053285 | 2022 | Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort. | 0 |
| 36179587 | 2022 | A comparative study of the epiligament of the medial collateral and anterior cruciate ligaments in the human knee: Immunohistochemical analysis of CD 34, α-smooth muscle actin and vascular endothelial growth factor in relation to epiligament theory. | 2 |
Citation
Dessen P
ACTA2 (actin alpha 2, smooth muscle)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46237/acta2
