About   Help   FAQ
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

HCOP human homology predictions: COL6A2
Protein SuperFamily: collagen VI
Gene Tree: Col6a2

Human
homologs
COL6A2, collagen, type VI, alpha 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1292
neXtProt AC: NX_P12110

Human Synonyms: PP3610

Human Chr (Location): 21q22.3; chr21:46097606-46132849 (+)  GRCh38.p2

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 )
Mutations Annotated to Human Diseases (1)   
Interactions
Col6a2 interacts with 190 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell adhesion, protein heterotrimerization
Component collagen trimer, extracellular exosome, ...
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (91)    Tissues (91)    Images (5)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 75
RT-PCR 16
cDNA source data(178)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100145523    NEW 
Molecular
reagents
All nucleic(202) Genomic(17) cDNA(183) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000020488 (Evidence)
Ensembl Gene Model ENSMUSG00000020241 (Evidence)
Entrez Gene 12834 (Evidence)
UniGene 1949
DFCI TC1574355
DoTS DT.110584300, DT.535662, DT.87025523, DT.94355732
NIA Mouse Gene Index U031946
Consensus CDS Project CCDS23951.1
International Mouse Phenotyping Consortium Status Col6a2
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:213088 Soteriou D, et al., Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance. J Biol Chem. 2013 Jun 28;288(26):18716-31
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2015
MGI 5.22
The Jackson Laboratory