Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol COL6A3 contributors: mct - updated : 25-04-2013
HGNC name collagen, type VI, alpha 3
HGNC id 2213
Corresponding disease
BTHM2 Bethlem myopathy 2
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
Physical map
GBX2 2q37.3 gastrulation brain homeo box 2 LOC389086 2 LOC389086 FLJ22527 2q37.3 hypothetical protein FLJ22527 CMKOR1 2q37.3 chemokine orphan receptor 1 COPS8 2q37.3 COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) LOC389087 2 LOC389087 COL6A3 2q37.3 collagen, type VI, alpha 3 LOC285110 2q37.3 hypothetical LOC285110 MLPH 2q37.3 hypothetical LOC285110 PRH 2q37.3 preproprolactin-releasing peptide RAB17 2q37.3 RAB17, member RAS oncogene family LRRFIP1 2q37.3 leucine rich repeat (in FLII) interacting protein 1 FLJ40411 2q37.3 FLJ40411 protein RAMP1 2q36-q37.1 receptor (calcitonin) activity modifying protein 1 NCE2 2q37.3 NEDD8-conjugating enzyme SCLY 2q37.3 selenocysteine lyase LOC339768 2q37.3 hypothetical protein LOC339768 FLJ43374 2q37.3 FLJ43374 protein LOC389088 2 similar to hypothetical protein 4832406C22 ILKAP 2q37.3 integrin-linked kinase-associated serine/threonine phosphatase 2C LOC151174 2q37.3 hypothetical protein LOC151174 LOC391494 2 similar to TAR DNA-binding protein-43 (TDP-43) HES6 2q37.3 hairy and enhancer of split 6 (Drosophila) PER2 2q37.3 period homolog 2 (Drosophila) MIP-T3 2q37.3 microtubule-interacting protein that associates with TRAF3 ASB1 2q37 ankyrin repeat and SOCS box-containing 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
44 - 10599 343 3177 - 2006 16613849
44 - 10061 - 1036 - 2006 16613849
43 - 4088 - 1237 - 2006 16613849
43 - 8778 - 2570 - 2006 16613849
43 - 9981 321 2971 - 2006 16613849
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessels    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
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
  • 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
    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