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FLASH GENE

Symbol

COL6A2

contributors: mct/npt - updated : 09-06-2010

HGNC name	collagen, type VI, alpha 2
HGNC id	2212

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BTHM1 Bethlem myopathy 1 MYSC myosclerosis UCMD1 Ullrich congenital muscular dystrophy 1
Location	21q22.3      Physical location : 47.518.032 - 47.552.763
Synonym name	mRNA for collagen VI alpha-2 C-terminal globular domain 9
	collagen alpha-2(VI) chain
Synonym symbol(s)	BTHM1, PP3610, DKFZp586E1322, FLJ46862

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	head to head with COL6A1
STRUCTURE	34.73 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see PFKL PFKL

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001849 28 - 3455 NP_001840 108 1019 - Baker (2005) also called variant 2C2 NM_058174 28 - 3168 NP_478054 - 918 - Baker (2005) also called variant 2C2a1 NM_058175 28 - 3461 NP_478055 - 828 - Baker (2005) also called variant 2C2a2

EXPRESSION

Type	ubiquitous

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 heart       highly   vessels         Lymphoid/Immune spleen         Reproductive male system prostate       Respiratory lung       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three von Willebrand factor A-like modules flanking the COL triple helix repeat domain
	one in the N terminal
	two in the C terminal globular region

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

Homologene

FAMILY

type VI collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION	involved in the maintenance of extracellular matrix
	acting as a cell-binding protein
	might serve as a lead structure for MMP-based therapeutics which modulates the action of these matrix components, e.g. in fibrosis and cancer (Freise 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA

a component	trimers composed of three different chains: alpha 1(VI), alpha 2(VI), and alpha 3(VI)
	major component of microfibrils

INTERACTION

DNA

RNA

small molecule

protein	collagens and other proteins of the extracellular matrix
	interacts with CSPG4
	expression responsive to VEGFA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BTHM1 , UCMD1 , MYSC

Susceptibility

to Down-syndrome atrioventricular septal defects

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS