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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
Chr1:90766860-90843971 bp, - strand
From VEGA annotation of GRCm38

  77112 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 western clawed frog; 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
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Col6a3 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Col6a3 interacts with 216 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Component collagen trimer, extracellular matrix, ...
External Resources: FuncBase
Expression
Literature Summary: (15 records)
Data Summary: Results (53)    Tissues (50)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 53
cDNA source data(134)
External Resources: Allen Institute   GEO   Expression Atlas
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
PDB4IGI, 4IHK
Consensus CDS ProjectCCDS56640.1
International Mouse Knockout Project StatusCol6a3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022359 VEGA Gene Model | MGI Sequence Detail 77112 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(73) RefSeq(5) UniProt(22)
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:208903 Pan TC, et al., A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16. J Biol Chem. 2014 Apr 11;289(15):10293-307
All references(53)
Disease annotation references (1)
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
12/09/2014
MGI 5.20
The Jackson Laboratory