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Gene : COL11A2 Homo sapiens

Name  ? collagen type XI alpha 2 chain Cytological Location  6p21.32
Brief Description  collagen type XI alpha 2 chain
Description  This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]
  • synonyms:
  • HKE5,
  • collagen, type XI, alpha 2,
  • DFNA13,
  • FBCG2,
  • STL3,
  • PARP,
  • DFNB53,
  • OSMEDB,
  • DFNA13,
  • U32169,
  • HGNC:2187,
  • COL11A2,
  • uc003ocy.2,
  • OSMEDA,
  • HKE5,
  • OTTHUMG00000031036,
  • DFNB53,
  • NM_001163771
  • identifiers:
  • 1302,
  • ENSG00000204248,
  • COL11A2

Genome feature

Region: gene ? Length: 30318  
Location: 6:33162692-33193009 reverse strand Cyto location: 6p21.32


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

5 Diseases

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3753 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results