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FLASH GENE

Symbol

COL6A3

contributors: mct - updated : 25-04-2013

HGNC name	collagen, type VI, alpha 3
HGNC id	2213

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BTHM2 Bethlem myopathy 2 DYT27 dystonia 27 UCMD2 Ullrich congenital muscular dystrophy 2
Location	2q37.3      Physical location : 238.232.654 - 238.322.850
Synonym name	alpha 3 type VI collagen
Synonym symbol(s)	BTHM2, FLJ34702, DKFZp686D23123, DKFZp686K04147, DKFZp686N0262, FLJ98399

DNA

TYPE	functioning gene
STRUCTURE	90.20 kb     44 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004369 44 - 10599 NP_004360 343 3177 - 2006 16613849 NM_057164 44 - 10061 NP_476505 - 1036 - 2006 16613849 NM_057165 43 - 4088 NP_476506 - 1237 - 2006 16613849 NM_057166 43 - 8778 NP_476507 - 2570 - 2006 16613849 NM_057167 43 - 9981 NP_476508 321 2971 - 2006 16613849

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 vessels         Nervous brain         Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nine von Willebrand vWF factor A domains within the N terminal portion
	a central triple helical domain (TH) flanked by large N- and C-terminal globular domains (N1–10 and C1–C5)
	three unrelated protein motifs at the C terminal end
	two vWF domains
	a proline rich repetitive segment
	alpha chain has much larger N- and C-globular domains than the other two chains
	a fibronectin type III repeat-like
	one Kunitz-type (38AA motif containing three intrachain disulfide bonds) domains

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

Homologene

FAMILY

type VI collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
text	extracellular matrix

basic FUNCTION	maintenance of extracellular matrix
	critical role in maintaining skeletal muscle functional integrity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	major component of microfibrils
	forming a trimer with COL6A1 and COL6A2 associated with furin

INTERACTION

DNA

RNA

small molecule

protein

TBP subunit TAF4 is essential to restrain the growth promoting properties of COL6A3

cell & other

REGULATION

Other

putative downregulated c-Myc target gene

ASSOCIATED DISORDERS

corresponding disease(s)

BTHM2 , UCMD2 , DYT27

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutant mice are deficient in extracellular collagen VI microfibrils and exhibit myopathic features including decreased muscle mass and contractile force