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FLASH GENE

Symbol

ACTA2

contributors: mct/npt - updated : 04-11-2015

HGNC name	actin, alpha 2, smooth muscle, aorta
HGNC id	130

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MSMD1 multisystemic smooth muscle dysfunction syndrome 1 MYMY5 Moyamoya disease susceptibility 5 TAAD4 thoracic aortic aneurysm with aortic dissection 4
Location	10q23.31      Physical location : 90.694.831 - 90.751.147
Synonym name	alpha-cardiac actin
	growth-inhibiting gene 46
	alpha 2 actin
Synonym symbol(s)	ACTSA, AAT6, ACTVS, MYMY5

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	56.32 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001141945 9 - 1798 NP_001135417 42 377 - Azuma (2009) NM_001613 9 - 1415 NP_001604 42 377 - Azuma (2009)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessels aorta       Homo sapiens Digestive stomach       highly Endocrine pancreas       highly Lymphoid/Immune spleen       highly Reproductive female system uterus     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Muscular smooth     highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

actin family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	structural protein, actin, alpha 2
	major constituent of the contractile apparatus, involved in cell motility, structure and integrity
	playing a role in adult aortic endothelium and possible association with progression of atherosclerosis (Azuma 2009)
	most abundant protein in the smooth muscle cells that populate the affected arteries and participates in cell proliferation, migration, and force transduction
	specifically mediates myoepithelial cell contraction during lactation and this actin isoform therefore exhibits functional specificity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	cooperative assembly of the dimeric PURB repressor on the sense strand of the ACTA2 enhancer is dictated by the association of each subdomain with distinct purine-rich binding sites within the enhancer
	AKT1 mediated TGFB1-induced ACTA2 synthesis through the contractile gene transcription factors myocardin and serum response factor (SRF)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TAAD4 , MYMY5 , MSMD1

Susceptibility

to occlusive vascular diseases, specifically premature coronary artery disease to Moyamoya disease [MMD]

Variant & Polymorphism other	inappropriate proliferation of Smooth muscle cells as a result of an ACTA2 mutation may represent a novel pathogenetic pathway contributing to occlusive vascular disease (Guo 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Acta2(-/-) mice showed increased neointimal formation following vascular injury
	Acta2 deficient mice have a remarkable mammary phenotype such that dams lacking Acta2 are unable to nurse their offspring effectively