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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

HCOP human homology predictions: COL2A1
Gene Tree: Col2a1

Human
homologs
COL2A1, collagen, type II, alpha 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1280
neXtProt AC: NX_P02458

Human Synonyms: ANFH, AOM, COL11A3, SEDC, STL1

Human Chr (Location): 12q13.11; chr12:47972965-48025286 (-)  GRCh38.p2

Disease Associations: (15) Diseases Associated with Human COL2A1

Mutations,
alleles, and
phenotypes
All mutations/alleles(19) : Chemically induced (ENU)(3) Gene trapped(3) Radiation induced(2) Spontaneous(2) Targeted(8) Transgenic(1)
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 in Mice Using Col2a1 (4)    Mutations Annotated to Human Diseases (5)    Phenotype Images(6)
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: (457 records)
Data Summary: Results (1195)    Tissues (562)    Images (369)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 102
RNA in situ 905
Northern blot 11
Western blot 14
RT-PCR 134
RNase protection 29
cDNA source data(249)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA COL2A1 ; Xenbase col2a1 ; ZFIN col2a1a    NEW 
Molecular
reagents
All nucleic(288) Genomic(10) cDNA(260) Primer pair(15) Other(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000021708 (Evidence)
Ensembl Gene Model ENSMUSG00000022483 (Evidence)
Entrez Gene 12824 (Evidence)
UniGene 2423
DFCI TC1571881, TC1595665, TC1615354
DoTS DT.91322077, DT.91563141, DT.94167697, DT.97360963
NIA Mouse Gene Index U036608
PDB 4BKL, 2W65
Consensus CDS Project CCDS37189.2, CCDS49716.1
International Mouse Phenotyping Consortium Status Col2a1
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(61) RefSeq(6) UniProt(2)
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:221660 Eyal S, et al., On the development of the patella. Development. 2015 May 15;142(10):1831-9
All references(558)
Disease annotation references (7)
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
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory