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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. COL2A1, collagen, type II, alpha 1
Sequence ID:NM_001844
NM_033150
RefSeqGene ID:NG_008072
Entrez Gene ID:1280
Ensembl ID:ENSG00000139219

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS 
AVASCULAR NECROSIS OF THE FEMORAL HEAD 
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS 
KNIEST DYSPLASIA 
LEGG-CALVE-PERTHES DISEASE 
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA 
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIACOL11A2
PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE 
SED CONGENITA 
SMED STRUDWICK TYPE 
SPONDYLOMETAPHYSEAL DYSPLASIA,KOZLOWSKI TYPETRPV4
SPONDYLOPERIPHERAL DYSPLASIA 
STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR 
STICKLER SYNDROME, TYPE I 

Cytogenetic Location (from UniGene)

Cytogenetic Location:12q13.11Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:12: 48366749 - 48370706

 Exon Info From UCSC:
NM_001844
NM_033150

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
7486698Full LengthBC116449collagen, type II, alpha 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_001835  NP_149162  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001844 NP_001835 P02458 VWC
Collagen
COLFI
NM_033150 NP_149162   Collagen
COLFI

Related Sequences

 
mRNAGenPeptSwissProt
M63281 AAA52038 P02458
BC007252 AAH07252 P02458
BC116449 AAI16450 P02458
BT007205 AAP35869 P02458
X06268 CAA29604 P02458
X13783 CAA32030 P02458
X16468 CAA34488 P02458
X16711 CAA34683 P02458
AL834148 CAI46208 Q5JPA6

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens COL2A1 NP_001835 R.norvegicus Col2a1 25412   NP_037061 96
M.musculus Col2a1 12824 Gene Info NP_112440 95
A.gambiae AgaP_AGAP011620 1281010   XP_320884 57

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)