ACTG2 (actin gamma 2, smooth muscle)

2016-05-01 Affiliation

Identity

HGNC

ACTG2

LOCATION

2p13.1

LOCUSID

ALIAS

ACT,ACTA3,ACTE,ACTL3,ACTSG,VSCM,VSCM1

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: 72
MIM: 102545
HGNC: 145
Ensembl: ENSG00000163017

Variants:

dbSNP: 72
ClinVar: 72
TCGA: ENSG00000163017
COSMIC: ACTG2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000163017	ENST00000345517	P63267
ENSG00000163017	ENST00000409624	P63267
ENSG00000163017	ENST00000409731	P63267
ENSG00000163017	ENST00000409918	B8ZZJ2
ENSG00000163017	ENST00000429756	F8WCH0
ENSG00000163017	ENST00000438902	F8WB63
ENSG00000163017	ENST00000442912	C9JFL5

Expression (GTEx)

1000

2000

3000

4000

5000

6000

7000

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12612070	2003	RNA polymerase II accumulation in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.	47
17554369	2007	TNF-alpha suppresses alpha-smooth muscle actin expression in human dermal fibroblasts: an implication for abnormal wound healing.	43
24676022	2014	Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.	35
24337657	2014	De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.	25
22960657	2012	Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.	16
19797053	2009	Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein.	15
17009076	2006	Correlations of tissue macrophages and cytoskeletal protein expression with renal fibrosis in patients with diabetes mellitus.	13
25998219	2015	New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).	10
25782675	2015	Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.	7
26647307	2016	ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.	7

Citation

Dessen P

ACTG2 (actin gamma 2, smooth muscle)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55744/actg2