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Col2a1
Gene Detail
Symbol

Name
ID
Col2a1
collagen, type II, alpha 1
MGI:88452
Synonyms
Col2, Col2a, Col2a-1, Del1, Lpk, M100856, Rgsc856
Feature Type
protein coding gene
Genetic Map
Chromosome 15
53.97 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr15:97975602-98004695 bp, - strand
From VEGA annotation of GRCm38

  29094 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55607  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

Gene Tree: Col2a1

Human
homologs
Human Homolog COL2A1, collagen, type II, alpha 1
NCBI Gene ID 1280
neXtProt AC  NX_P02458
Human Synonyms  ANFH, AOM, COL11A3, SEDC, STL1
Human Chr (Location)  12q13.11; chr12:47972965-48004554 (-)  GRCh38
Disease Associations  (15) Diseases Associated with Human COL2A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Chemically induced (ENU)(3) Gene trapped(3) Radiation induced(2) Spontaneous(2) Targeted(6)
Genomic Mutations involving Col2a1 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix.
 
Human Diseases Modeled Using Mouse Col2a1 (4)    Alleles Annotated to Human Diseases(4)    Phenotype Images(2)
Interactions
Col2a1 interacts with 147 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process bone development, cartilage condensation, ...
Component basement membrane, collagen trimer, ...
Function extracellular matrix structural constituent, identical protein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (436 records)
Data Summary: Results (1208)    Tissues (556)    Images (369)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 101
RNA in situ 903
Northern blot 11
Western blot 14
RT-PCR 134
RNase protection 45
cDNA source data(248)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(287) Genomic(10) cDNA(259) Primer pair(15) Other(3)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021708 (Evidence)
Ensembl Gene ModelENSMUSG00000022483 (Evidence)
Entrez Gene12824 (Evidence)
UniGene2423
DFCITC1571881, TC1595665, TC1615354
DoTSDT.91322077, DT.91563141, DT.94167697, DT.97360963
NIA Mouse Gene IndexU036608
PDB4BKL, 2W65
Consensus CDS ProjectCCDS37189.2, CCDS49716.1
International Mouse Knockout Project StatusCol2a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021708 VEGA Gene Model | MGI Sequence Detail 29094 C57BL/6J ±  kb
transcript OTTMUST00000051504 VEGA | MGI Sequence Detail 5104 Not Applicable 
polypeptide OTTMUSP00000024255 VEGA | MGI Sequence Detail 1487 Not Applicable 

For the selected sequences
All sequences(62) RefSeq(6) UniProt(3)
Polymorphisms
RFLP(3) : SNPs within 2kb(147 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR000885 Fibrillar collagen, C-terminal
InterPro IPR001007 von Willebrand factor, type C
Protein Ontology PR:000003266 collagen type II alpha chain
References
(Earliest) J:6582 Brown KS, et al., Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix. J Embryol Exp Morphol. 1981 Apr;62:165-82
(Latest) J:214083 Boucherat O, et al., Crucial requirement of ERK/MAPK signaling in respiratory tract development. Development. 2014 Aug;141(16):3197-211
All references(538)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-2061, MGD-MRK-2062, MGD-MRK-2063, MGD-MRK-8871, MGI:3808757, MGI:3847802

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