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FLASH GENE

Symbol

ITGA8

contributors: mct - updated : 11-03-2016

HGNC name	integrin, alpha 8
HGNC id	6144

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BRA1 bilateral renal agenesis 1
Location	10p13      Physical location : 15.559.087 - 15.761.770

DNA

TYPE	functioning gene
STRUCTURE	202.00 kb     30 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	ITGA8 expression is CArG-SRF independent, but MYOCD dependent through an as yet unknown sequence module that is distal from the promoter region

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 30 - 3261 - 1063 - Scherberich (2005)

EXPRESSION

Type	restricted

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 vessel         Homo sapiens Reproductive male system prostate       Respiratory lung alveoli       Urinary kidney       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth vessel     Homo sapiens Muscular striatum cardiac myocardium

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens Muscular myoblast Urinary mesangial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	developing kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	extracellular heavy chain with seven FG-GAP repeats
	13 N-glycosylation sites
	three calcium binding sites, a cell attachment site, linked by a disulfide bond to a light chain with an extracellular domain with two N-glycosylation sites
	a transmembrane and a cytoplasmic domain

conjugated

GlycoP

mono polymer

heteromer , dimer

isoforms

Precursor

HOMOLOGY

interspecies	ortholog to murine Itga8
	homolog to rattus Rn.69726
	homolog to Drosophila scb
	homolog to C.elegans F54F2.1

Homologene

FAMILY

integrin alpha chain family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in cell-cell adhesion and cell- matrix adhesion
	implicated in cardiac fibrosis
	the influence of ITGA8 on the expression of matrix components was not uniform and celltype dependent, and seems unlikely to exert overall profibrotic effects in renal cells

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

development

text	kidney morphogenesis

PATHWAY

metabolism

signaling

a component

ITGA8 and ITGB1

INTERACTION

DNA

RNA

small molecule

protein

binding to fibronectin (FN1), vitronectin, tenascin (by their RGD sites)

cell & other

REGULATION

induced by

in response to pro-hypertrophic and pro-fibrotic agent angiotensin II

ASSOCIATED DISORDERS

corresponding disease(s)

BRA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   associated with increased cardiac interstitial fibrosis tumoral     --low   by aberrant promoter methylation in ovarian cancers (Cai 2007) constitutional germinal mutation       in isolated Congenital anomalies of the kidney and urinary tract (CAKUT)

Susceptibility

to hypertrophic cardiomyopathy to modification of the progression of renal failure in autosomal-dominant polycystic kidney disease (ADPK

Variant & Polymorphism other	modifier gene of MYBPC3, in hypertrophic cardiomyopathy
	polymorphism of the ITGA8 promoter modifies the progression of renal failure in ADPKD

Candidate gene
Marker	ITGA2B, ITGA8, GIT1, and SHC1 were identified as independent prognostic factors of overall survival of clear cell renal cell carcinoma
Therapy target

ANIMAL & CELL MODELS

mice deficient for ITGA8 have structural alterations in glomeruli but not in renal arteries