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Col6a2
Gene Detail
 Symbol
Name
ID
Col6a2
collagen, type VI, alpha 2
MGI:88460
Synonyms Col6a-2
Feature Type protein coding gene
Genetic Map
Chromosome 10
39.32 cM, cytoband B5-C1
Detailed Genetic Map ± 1 cM


Mapping data(13)
Sequence Map
Chr10:76595762-76623630 bp, - strand
From VEGA annotation of GRCm38

  27869 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1392  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: collagen VI
Gene Tree: Col6a2

Human
homologs
Human Homolog COL6A2, collagen, type VI, alpha 2
NCBI Gene ID 1292
neXtProt AC  NX_P12110
Human Synonyms  PP3610
Human Chr (Location)  21q22.3; chr21:46098119-46132849 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human COL6A2
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
Genomic Mutations involving Col6a2 (4)
Incidental mutations (data from Mutagenetix , APF )
Alleles Annotated to Human Diseases(1)   
Interactions
Col6a2 interacts with 190 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process cell adhesion, protein heterotrimerization
Component collagen trimer, extracellular matrix, ...
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (91)    Tissues (91)    Images (5)
Theiler Stages: 13, 15, 17, 20, 21, 22, 24, 26, 27, 28
Assay TypeResults
RNA in situ 75
RT-PCR 16
cDNA source data(178)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(202) Genomic(17) cDNA(183) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000020488 (Evidence)
Ensembl Gene ModelENSMUSG00000020241 (Evidence)
Entrez Gene12834 (Evidence)
UniGene1949
DFCITC1574355
DoTSDT.110584300, DT.535662, DT.87025523, DT.94355732
NIA Mouse Gene IndexU031946
Consensus CDS ProjectCCDS23951.1
International Mouse Knockout Project StatusCol6a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020488 VEGA Gene Model | MGI Sequence Detail 27869 C57BL/6J ±  kb
transcript OTTMUST00000048588 VEGA | MGI Sequence Detail 3949 Not Applicable 
polypeptide OTTMUSP00000022315 VEGA | MGI Sequence Detail 1034 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(4) UniProt(2)
Polymorphisms RFLP(2) : SNPs within 2kb(157 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR002035 von Willebrand factor, type A
Protein Ontology PR:000003357 collagen alpha-2(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:185552 Acharya A, et al., The bHLH transcription factor Tcf21 is required for lineage-specific EMT of cardiac fibroblast progenitors. Development. 2012 Jun;139(12):2139-49
All references(64)
Other
accession IDs
MGD-MRK-2074, MGD-MRK-2077

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
08/26/2014
MGI 5.19
The Jackson Laboratory