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Gene : COL2A1 Homo sapiens

Name  ? collagen type II alpha 1 chain Cytological Location  12q13.11
Brief Description  collagen type II alpha 1 chain
Description  This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • collagen, type II, alpha 1,
  • arthroophthalmopathy, progressive (Stickler syndrome),
  • SEDC,
  • AOM,
  • COL11A3,
  • COL2A1,
  • STL1,
  • NM_001844,
  • HGNC:2200,
  • X16468,
  • ANFH,
  • OTTHUMG00000149896,
  • AOM,
  • SEDC,
  • uc001rqu.4,
  • collagen type II alpha 1,
  • collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital),
  • STL1
  • identifiers:
  • 1280,
  • ENSG00000139219,
  • COL2A1

Genome feature

Region: gene ? Length: 33246  
Location: 12:47972967-48006212 reverse strand Cyto location: 12q13.11

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15 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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Gene --> GO terms.



497 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results