ACTA2 (actin alpha 2, smooth muscle)

2007-02-01 Affiliation

Identity

HGNC

ACTA2

LOCATION

10q23.31

LOCUSID

ALIAS

ACTSA

FUSION GENES

Show Gene Fusions

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)

1000

2000

3000

4000

5000

6000

7000

8000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Vascular smooth muscle contraction	KEGG	hsa04270
Vascular smooth muscle contraction	KEGG	ko04270
Muscle contraction	REACTOME	R-HSA-397014
Smooth Muscle Contraction	REACTOME	R-HSA-445355
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
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