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FLASH GENE

Symbol

ACTG2

contributors: mct - updated : 24-08-2017

HGNC name	actin, gamma 2, smooth muscle, enteric
HGNC id	145

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MMIH2 megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Location	2p13.1      Physical location : 74.120.092 - 74.146.779
Synonym name	actin, gamma 2
	actin-like protein
	alpha-smooth muscle actin
Synonym symbol(s)	ACTL3, ACTA3, ACTSG, ACTE, ACT, SMGA, gamma SMA

DNA

TYPE	functioning gene
STRUCTURE	26.69 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001615 9 - 1345 NP_001606 - 376 - 2016 27107594 NM_001199893 8 - 1216 NP_001186822 - 333 - 2016 27107594

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 Digestive intestine small intestine     highly   intestine large intestine colon   highly Reproductive male system prostate     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth muscularis mucosa (tractus digestif)   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

actin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	being mediator of internal cell motility
	its expression in HCC is strongly correlated with the Epithelial-Mesenchymal Transition (EMT) process, hepatocellular carcinoma (HCC) aggressiveness and the identification of cancer stem cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the cytoskeleton

INTERACTION

DNA

RNA

small molecule

protein

target of NKX 3.1 regulatory activity (activity in prostate epithelia is due, in part, to the androgen-dependent expression of NKX3.1)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MMIH2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in androgen-responsive LNCaP cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	represents a novel and powerful marker to predict HCC progression
Therapy target
	System Type Disorder Pubmed cancer digestive liver novel target for the treatment of HCC

ANIMAL & CELL MODELS