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FLASH GENE

Symbol

COL4A3

contributors: mct/npt - updated : 05-01-2010

HGNC name	collagen, type IV, alpha 3 (Goodpasture antigen)
HGNC id	2204

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATS2 Alport syndrome 2 ATS3 Alport syndrome 3 FBH familial "benign" hematuria
Location	2q36.3      Physical location : 228.029.280 - 228.179.507
Synonym name	collagen of basement membrane, alpha 3 chain, tumstatin
	thick basement membrane (TBM), neuromuscular junction
	goodpasture antigen
	tumstatin

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head, opposite orientation
text	head-to head to COL4A4
STRUCTURE	150.23 kb     52 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	sharing the same promoter with COL4A4

MAPPING

cloned

Y

linked

Y

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000091 52 - 8096 NP_000082 161.7 1670 - Quinones (1992) NM_031362 51 splicing 7923 NP_112730 159.2 1642 - Turner, Quinones (1992) lacking exon 51 NM_031365 49 splicing 7630 NP_112733 145.2 1494 - Turner, Quinones (1992) lacking exons 50, 51 NM_031366 48 splicing 7420 NP_112734 138.1 1424 - Turner, Quinones (1992) lacking exons 49, 50, 51, 52

EXPRESSION

Type	ubiquitous

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 Hearing/Equilibrium ear inner cochlea     Urinary kidney nephron renal capsule glomerulus

cells

System Cell Pubmed Species Stage Rna symbol Respiratory alveoli

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	in the dermo-epidermal junction during fetal skin development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	meshwork forming collagen with a GLy-X-Y repeat sequence interspersed by small interruptions
	non collagenous I domain (NC1), tumstatin, endogenous inhibitor of pathological angiogenesis and suppressing tumor growth
	C terminal peptide seqence inhibiting melanoma cell proliferation

HOMOLOGY

interspecies

homolog to murine Col4a3

Homologene

FAMILY

type IV collagen family

CATEGORY

structural protein , tumor suppressor

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix protein of glomerular basement membrane, Bowman capsule, distal TBM, neuromuscular junction

basic FUNCTION	functioning as an endothelial cell-specific inhibitor of protein synthesis
	inhibiting angiogenesis and tumor growth
	formation of basement membranes
	functioning as an endogenous inhibitor of pathological angiogenesis and a novel suppressor of proliferating endothelial cells and growth of tumors

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

INTERACTION

DNA

RNA

small molecule

protein

binding ITGAV beta 3 (to the inhibition of CAP-dependent translation and protein synthesis)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATS2 , FBH , ATS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS