Col2a1
Gene Detail

Symbol Name ID

Col2a1 collagen, type II, alpha 1 MGI:88452

STS

D15Mit41, D15Mit43

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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; rabbit, European    (Mammalian Orthology)
Comparative Map (Mouse/Human Col2a1 ± 2 cM)

Gene Tree: Col2a1

Human ortholog

COL2A1 collagen, type II, alpha 1 NCBI Gene ID 1280
Human Synonyms: ANFH, AOM, COL11A3, SEDC
Human Chr12:48366748-48398285 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human COL2A1 (15)

Alleles and phenotypes

All alleles(14) : Targeted(6) Gene trapped(3) Spontaneous(1) Chemically induced(3) Radiation induced(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (44 annotations)

Process	bone development, cartilage condensation, ...
Component	basement membrane, collagen, ...
Function	extracellular matrix structural constituent, identical protein binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (387 records)
Data Summary: Results (729)    Tissues (332)    Images (236)
Theiler Stages: 11, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	81
RNA in situ	561
Northern blot	11
Western blot	4
RT-PCR	71
RNase protection	1

cDNA source data(246)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(277) Genomic(10) cDNA(255) Primer pair(9) 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	2W65
Consensus CDS Project	CCDS37189.2, CCDS49716.1
International Mouse Knockout Project Status	Col2a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021708	VEGA Gene Model | MGI Sequence Detail	29094	C57BL/6J
transcript	OTTMUST00000051504	VEGA | MGI Sequence Detail	5104	Not Applicable
polypeptide	OTTMUSP00000024255	VEGA | MGI Sequence Detail	1487	Not Applicable

All sequences(59) RefSeq(4) UniProt(2)

Polymorphisms

RFLP(3) : SNPs(123 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191689 Gross S, et al., Hoxa11 and Hoxd11 regulate chondrocyte differentiation upstream of Runx2 and Shox2 in mice. PLoS One. 2012;7(8):e43553
All references(486)

Other accession IDs

MGD-MRK-2061, MGD-MRK-2062, MGD-MRK-2063, MGD-MRK-8871, MGI:3808757, MGI:3847802