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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

HCOP human homology predictions: COL6A3
Protein SuperFamily: collagen VI
Gene Tree: Col6a3

Human
homologs
COL6A3, collagen, type VI, alpha 3
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1293
neXtProt AC: NX_P12111

Human Synonyms: DYT27

Human Chr (Location): 2q37; chr2:237324012-237414370 (-)  GRCh38.p2

Disease Associations: (3) 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 in Mice Using Col6a3 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(3)
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 exosome, ...
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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100486063    NEW 
Molecular
reagents
All nucleic(137) cDNA(137)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000022359 (Evidence)
Ensembl Gene Model ENSMUSG00000048126 (Evidence)
Entrez Gene 12835 (Evidence)
UniGene 7562
DFCI TC1575735, TC1598932, TC1601190, TC1655668, TC1705122
DoTS DT.110930078, DT.535898, DT.91281554, DT.94302998
NIA Mouse Gene Index U021584
PDB 4IGI, 4IHK
Consensus CDS Project CCDS56640.1
International Mouse Phenotyping Consortium Status Col6a3
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(67) RefSeq(5) UniProt(12)
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:212849 Martianov I, et al., TAF4 inactivation reveals the 3 dimensional growth promoting activities of collagen 6A3. PLoS One. 2014;9(2):e87365
All references(52)
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
07/21/2015
MGI 5.22
The Jackson Laboratory