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FLASH GENE

Symbol

COL5A2

contributors: mct - updated : 22-05-2018

HGNC name	collagen, type V, alpha 2
HGNC id	2210

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EDS1B Ehlers-Danlos syndrome, gravis classical type 1b EDS2 Ehlers-Danlos syndrome, type II
Location	2q32.2      Physical location : 189.896.641 - 190.044.605
Synonym name	collagen alpha-2
Synonym symbol(s)	MGC105115

DNA

TYPE	functioning gene
STRUCTURE	148.00 kb     54 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	see COL3A1

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

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 Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Connective interstitial dermis

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	von Willebrand factor type C domain
	fibrillar collagen with triple helix repeat
	C-terminal globular domain

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

ortholog to murine Col5a2

Homologene

FAMILY

collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION

incorporated into,and contributing to regulate the shape and diameter of type I collagen fibrils

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associating as a low abundance collagen, with collagen type I fibrils
	BMP1 cleaving the C-propeptides of the major fibrillar procollagens

cell & other

REGULATION

Other

regulated by BMP1 (procollagen C-peptidase)

ASSOCIATED DISORDERS

corresponding disease(s)

EDS1B , EDS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS