XB-FEAT-876668: Difference between revisions
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=''col11a2''= | =''col11a2''= | ||
This is the community wiki page for the gene ''col11a2'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | This is the community wiki page for the gene ''col11a2'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | ||
=summary for human COL11A2= | |||
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] | |||
=nomenclature changes= | =nomenclature changes= | ||
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Human name has changed for Entrez Gene: 394214. From collagen, type XI, alpha 2 pseudogene 1 to collagen type XI alpha 2 pseudogene 1 | Human name has changed for Entrez Gene: 394214. From collagen, type XI, alpha 2 pseudogene 1 to collagen type XI alpha 2 pseudogene 1 | ||
3OCT2023 | |||
Renamed gene, changing from ''col11a2p1'' to ''col11a2'', removing ‘p1’ suffix as these are protein coding genes in Xenopus. | |||
Humans have a true pc gene and an adjacent pseudogene on Chr6, flanked by BRD2 and RXRB. | |||
Xenopus tropicalis and X.laevis.S both have orthologous genes. | |||
Also, removed the human COL11A2P1 as ortholog from this gene page (done) | |||
=Orthology and Synteny= | |||
Synteny shows that these genes are the true orthologs of human COL11A2, and therefore orthologs were moved from XB-GENEPAGE-12564498 to XB-GENEPAGE-876668 | |||
Xtr.chr8: | |||
/// s''yngap1.L< LOC100486535(unch) cuta.L> phf1 < slc39a7 < hsd17b8> ring1>//// rxrb> '''col11a2*(was col11a2p1- not a pseudogene)>''' mhc2-dcb< post12< tap1< tap2>'' (*needed model updates on gene page) | |||
Xla.Chr8L: ''syngap1.L< cuta.L> phf1.L< slc39a7.L< ring1.L> ///LOC100137644(unch|?hmga2)< rxrb.L> mhc-dab.L< mhc-daa.L> LOC108719087(p2rx7-like)< mhc2-dcb.L(eladab-a)< mhc2-dca.L> mhc2-dbb.L< LOC121397044(unch|)< LOC121397045<. mhc2-dba'' | |||
Not present in Xlaevis L sub genome! | |||
Xla.Chr8S: | |||
''slc39a7.S < hsd17b8> ring1> rps18.S> wdr46.2> pfdn6.S> tapbp.S< zbtb22.S< LOC100126628(unch|?hmga2)< rxrb.S> '''LOC108700220(col11a2.S)'''> brd.S< mhc2-dma.S'' | |||
Human: chr6: BRD2> HLA-DOA< HLA-DPA1< HLA-DPB1> HLA-DPA2< COL11A2P1< '''COL11A2<''' RXRB< SLC39A7> RING1> | |||
Latest revision as of 11:04, 2 October 2023
col11a2
This is the community wiki page for the gene col11a2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
summary for human COL11A2
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]
nomenclature changes
04/22/ 2016
Human name has changed for Entrez Gene: 394214. From collagen, type XI, alpha 2 pseudogene 1 to collagen type XI alpha 2 pseudogene 1
3OCT2023
Renamed gene, changing from col11a2p1 to col11a2, removing ‘p1’ suffix as these are protein coding genes in Xenopus.
Humans have a true pc gene and an adjacent pseudogene on Chr6, flanked by BRD2 and RXRB. Xenopus tropicalis and X.laevis.S both have orthologous genes.
Also, removed the human COL11A2P1 as ortholog from this gene page (done)
Orthology and Synteny
Synteny shows that these genes are the true orthologs of human COL11A2, and therefore orthologs were moved from XB-GENEPAGE-12564498 to XB-GENEPAGE-876668
Xtr.chr8: /// syngap1.L< LOC100486535(unch) cuta.L> phf1 < slc39a7 < hsd17b8> ring1>//// rxrb> col11a2*(was col11a2p1- not a pseudogene)> mhc2-dcb< post12< tap1< tap2> (*needed model updates on gene page)
Xla.Chr8L: syngap1.L< cuta.L> phf1.L< slc39a7.L< ring1.L> ///LOC100137644(unch|?hmga2)< rxrb.L> mhc-dab.L< mhc-daa.L> LOC108719087(p2rx7-like)< mhc2-dcb.L(eladab-a)< mhc2-dca.L> mhc2-dbb.L< LOC121397044(unch|)< LOC121397045<. mhc2-dba
Not present in Xlaevis L sub genome!
Xla.Chr8S: slc39a7.S < hsd17b8> ring1> rps18.S> wdr46.2> pfdn6.S> tapbp.S< zbtb22.S< LOC100126628(unch|?hmga2)< rxrb.S> LOC108700220(col11a2.S)> brd.S< mhc2-dma.S
Human: chr6: BRD2> HLA-DOA< HLA-DPA1< HLA-DPB1> HLA-DPA2< COL11A2P1< COL11A2< RXRB< SLC39A7> RING1>