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
17994018	2007	Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.	251
19409525	2009	Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.	125
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
20734336	2010	De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.	58
21937134	2013	Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.	51
26028530	2015	Expression of α-Smooth Muscle Actin Determines the Fate of Mesenchymal Stromal Cells.	40
24945657	2014	The prognostic significance of cancer-associated fibroblasts in esophageal squamous cell carcinoma.	39
25314063	2014	α-Smooth muscle actin expression and desmoplastic stromal reaction in pancreatic cancer: results from the CONKO-001 study.	39
19639654	2009	Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).	34

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