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Col6a3
Gene Detail
 Symbol
Name
ID
Col6a3
collagen, type VI, alpha 3
MGI:88461
Synonyms Col6a-3
Feature Type protein coding gene
Genetic Map
Chromosome 1
45.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr1:90766860-90843952 bp, - strand
From VEGA annotation of GRCm38

  77093 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37917  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: collagen VI
Gene Tree: Col6a3

Human
homologs
Human Homolog COL6A3, collagen, type VI, alpha 3
NCBI Gene ID 1293
neXtProt AC  NX_P12111
Human Chr (Location)  2q37; chr2:237324012-237414207 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human COL6A3
Alleles
and
phenotypes
All alleles(3) : Targeted(2) Gene trapped(1)
 
Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.
 
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Component collagen, extracellular matrix, ...
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (53)    Tissues (50)    Images (6)
Theiler Stages: 17, 20, 21, 22, 23, 24, 26
Assay TypeResults
RNA in situ 53
cDNA source data(134)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(137) cDNA(137)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000022359 (Evidence)
Ensembl Gene ModelENSMUSG00000048126 (Evidence)
Entrez Gene12835 (Evidence)
UniGene7562
DFCITC1575735, TC1598932, TC1601190, TC1655668, TC1705122
DoTSDT.110930078, DT.535898, DT.91281554, DT.94302998
NIA Mouse Gene IndexU021584
Consensus CDS ProjectCCDS56640.1
International Mouse Knockout Project StatusCol6a3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022359 VEGA Gene Model | MGI Sequence Detail 77093 C57BL/6J ±  kb
transcript OTTMUST00000053364 VEGA | MGI Sequence Detail 9001 Not Applicable 
polypeptide OTTMUSP00000062798 VEGA | MGI Sequence Detail 2677 Not Applicable 

For the selected sequences
All sequences(59) RefSeq(5) UniProt(10)
Polymorphisms RFLP(1) : SNPs within 2kb(845 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR003961 Fibronectin, type III
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
InterPro IPR002223 Proteinase inhibitor I2, Kunitz metazoa
InterPro IPR002035 von Willebrand factor, type A
Protein Ontology PR:000003341 collagen alpha-3(VI) chain
References (Earliest) J:32332 Chu ML, et al., Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. Eur J Biochem. 1987 Oct 15;168(2):309-17
(Latest) J:198581 Pan TC, et al., COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. J Biol Chem. 2013 May 17;288(20):14320-31
All references(53)
Other
accession IDs
MGD-MRK-2075, MGD-MRK-2078, MGI:2138284

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory