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FLASH GENE

Symbol

COL8A2

contributors: shn/npt - updated : 08-12-2009

HGNC name	collagen, type VIII, alpha 2
HGNC id	2216

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FECD1 corneal dystrophy, Fuchs endothelial 1 PPCD2 posterior polymorphous corneal dystrophy 2
Location	1p34.3      Physical location : 36.560.844 - 36.565.850
Synonym name	collagen type VIII alpha 2 precursor
	endothelial collagen
	VIII chain precursor
	collagen alpha-2
	dJ665N4.1 (collagen type VIII alpha 2)
Synonym symbol(s)	PPCD, FECD, FLJ00201, MGC116970, MGC116972, PPCD2

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	5.01 kb     2 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	pter - D1S441 - D1S2656 - COL8A2 - D1S2729 - D1S472 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005202 2 - 4443 NP_005193 - 703 - -

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 Skin/Tegument skin         Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial barrier lining corneal endothelium

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a triple-helical and a carboxyl non-triple-helical domain
	one C1q C terminal domain
	one NC1 and one NC2 domain

conjugated

GlycoP

mono polymer

homomer , heteromer , trimer

HOMOLOGY

interspecies	ortholog to Col8a2, Mus musculus
	ortholog to Col8a2, Rattus norvegicus
	ortholog to COL8A2, Pan troglodytes

Homologene

FAMILY

short chain collagen family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	vascular subendothelial matrices

basic FUNCTION

playing a role in the structure of cornea

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	a major constituent of Descemet membrane (posterior lining membrane of cornea)
	a major component of the subendothelial matrix
	has the potential to improve both initial cell attachment and retention of endothelial cells on vascular grafts in vivo (Turner 2006)

INTERACTION

DNA

RNA

small molecule

protein

collagen, type VIII, alpha 1 (COL8A1)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FECD1 , PPCD2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS