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FLASH GENE

Symbol

ITGA2

contributors: mct - updated : 09-05-2007

HGNC name	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
HGNC id	6137

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q11.2      Physical location : 52.285.155 - 52.390.608
Synonym name	platelet glycoprotein Ia; cell differentiation antigen CD49B, identified by antibodies CLB-thromb/4, Gil4
Synonym symbol(s)	CD49B, VLA2A, VLAA2, BR, GPIA, VLA2

DNA

TYPE	functioning gene
STRUCTURE	102.00 kb     30 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

widely

constitutive of

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       highly Digestive mouth       moderately   stomach       moderately Endocrine pancreas       moderately Lymphoid/Immune spleen       lowly Nervous brain forebrain cerebral lobe frontal lowly Respiratory lung       lowly   respiratory tract trachea     highly Urinary bladder       highly   kidney       moderately Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     moderately Connective adipose     lowly Epithelial barrier/lining epidermis stratum basale moderately

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	embryonic tissue at a lowly level

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 29 amino acids signal peptide (2.9 kDa)
	a N terminal large extracellular domain consisting of a sevenfold repeated structure with putative cation-binding motifs in the three of four C terminal repeats (FG-GAP) repeats.
	and an I domain inserted between the second and third repeats ligand binding. This domain is connected by a single transmembrane segment (1TM) to a short conserved cytoplasmic domain
	one VWFA domain.

conjugated

GlycoP

mono polymer

heteromer , dimer

isoforms

Precursor

a 1152 amino acids mature peptide (126.4 kDa)

HOMOLOGY

interspecies	homolog to chimpanzee ITGA2 (99.75 pc)
	homolog to rattus Itga2 (81.83 pc)
	homolog to murine Itga2 (82.60 pc)

Homologene

FAMILY

integrin family

CATEGORY

adhesion , antigen , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
text	type 1 membrane protein

basic FUNCTION	cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells
	playing a role in tumour development (FitzGerald 2009)

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	constituent of VLA-2 receptor
	dimerizing with ITGB1 in collagen, laminin receptors

INTERACTION

DNA

RNA

small molecule

protein

collagen (control of collagen expression)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       deficiency of platelet receptor for collagen constitutional germinal mutation       fetal and neonatal alloimmune thrombocytopenia [alloantigène Br(a)]

Susceptibility

to prostate cancer and other cancers to coronary atherosclerosis

Variant & Polymorphism SNP	rs3212649 and rs1126643, significantly associated in both familial and sporadic prostate cancer (FitzGerald 2009)
	rs3212556 associated with coronary atherosclerosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS