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FLASH GENE

Symbol

COL4A2

contributors: mct - updated : 25-01-2014

HGNC name	collagen, type IV, alpha 2
HGNC id	2203

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COSS COL4A1 stroke syndrome PRCF porencephaly familial
Location	13q34      Physical location : 110.959.630 - 111.165.371
Synonym name	alpha 2 type IV collagen
	canstatin
Synonym symbol(s)	DKFZp686I14213, FLJ22259

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	head to head with COL4A1
STRUCTURE	205.74 kb     48 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	see COL4A1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001846 48 - 6264 - 1712 - 2000 10713126

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 Cardiovascular heart       highly Digestive intestine large intestine colon   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 bone

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	in the dermoepidermal junction during fetal skin development, placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a short N-terminal triple-helical 7S domain, 1-89 amino acid fragment, inhibiting the neovascularization, potently inducing apoptosis of endothelial cells
	meshwork forming collagen with a GLy-X-Y repeat sequence interspersed by small interruptions, in the long central triple-helical domain (which may cause flexibility in the triple helix)
	. two C-terminal COL4C (collagen IV C-terminal) domains, also specifically inhibiting the proliferation of umbilical vein endothelial cells and inducing apoptosis, and a globular noncollagenous (NC1) domain responsible for initiating heterotrimer formation within the ER

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

homolog to murine Col4a2

Homologene

FAMILY

collagen family

CATEGORY

regulatory , structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	extracellular matrix
	heterotrimers composed of one COL4A2 and two COL4A1 peptides are assembled and modified within the endoplasmic reticulum (ER) before trafficking to the Golgi where they are packaged into vesicles for secretion into the vascular basement membranes

basic FUNCTION	involved in formation of basement membranes
	inhibiting angiogenesis and tumor growth
	inhibiting proliferation of endothelial cells and suppressing tumor growth
	important role of COL4A1, COL4A2 in the physiological and optical properties of the lens
	in addition to the role in the formation of epithelium and vasculature, COL4A1, COL4A2 appears to be key for alveolar myofibroblast development by inducing their proliferation, differentiation and migration throughout the developing septum

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

COL4A1 and COL4A2 form heterotrimers and are abundant components of basement membranes, including those of the cerebral vasculature

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PRCF , COSS

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular     a mechanism-based therapy promoting protein folding might prevent intracerebral hemorrhage (ICH) in patients with COL4A1 and COL4A2 mutations

ANIMAL & CELL MODELS