COL11A2 (gene)

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COL11A2
Identifiers
Aliases COL11A2, DFNA13, DFNB53, FBCG2, HKE5, PARP, STL3, collagen type XI alpha 2
External IDs MGI: 88447 HomoloGene: 22547 GeneCards: COL11A2
RNA expression pattern
PBB GE COL11A2 216993 s at fs.png

PBB GE COL11A2 213870 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001163771
NM_080679
NM_080680
NM_080681

NM_009926
NM_001317722

RefSeq (protein)

NP_001157243
NP_542410
NP_542411
NP_542412

NP_034056.1
NP_001304651.1
NP_001304651
NP_034056

Location (UCSC) Chr 6: 33.16 – 33.19 Mb Chr 17: 34.04 – 34.07 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-2(XI) chain is a protein that in humans is encoded by the COL11A2 gene.[3][4][5]

Function[edit]

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, and autosomal dominant nonsyndromic sensorineural 13 deafness. Three transcript variants encoding different isoforms have been identified for this gene.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Vuristo MM, Pihlajamaa T, Vandenberg P, Prockop DJ, Ala-Kokko L (Nov 1995). "The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens". J Biol Chem. 270 (39): 22873–81. doi:10.1074/jbc.270.39.22873. PMID 7559422. 
  4. ^ McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ (Dec 1999). "Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)". Nat Genet. 23 (4): 413–9. doi:10.1038/70516. PMID 10581026. 
  5. ^ a b "Entrez Gene: COL11A2 collagen, type XI, alpha 2". 

External links[edit]

Further reading[edit]