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Details on Person UniProt:P13942-2 COL11A2
| Class:Id | ReferenceIsoform:144866 |
|---|---|
| _chainChangeLog | signal peptide:1-27 added on Fri February 6 2015;chain:28-1736 added on Fri February 6 2015;propeptide:1501-1736 added on Fri February 6 2015 |
| _displayName | UniProt:P13942-2 COL11A2 |
| _timestamp | 2024-11-03 20:13:49 |
| chain | signal peptide:1-27 chain:28-1736 propeptide:1501-1736 |
| checksum | D687B7AAD6A7774C |
| comment | FUNCTION May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.SUBUNIT Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II).INTERACTION Isoforms lack exons 6, 7 or 8 or a combination of these exons. Experimental confirmation may be lacking for some isoforms.DOMAIN The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).PTM Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.PTM A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the fibrillar collagen family.ONLINE INFORMATION Gene page |
| description | recommendedName: Collagen alpha-2(XI) chain |
| geneName | COL11A2 |
| identifier | P13942 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Calcium Collagen Deafness Disease variant Disulfide bond Dwarfism Extracellular matrix Glycoprotein Hydroxylation Metal-binding Non-syndromic deafness Proteomics identification Reference proteome Repeat Secreted Signal Stickler syndrome |
| modified | [InstanceEdit:84067] Schmidt, EE, 2003-12-18 04:29:09 [InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10 [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:2455454] Weiser, JD [InstanceEdit:3132113] Weiser, JD [InstanceEdit:3445779] Weiser, JD [InstanceEdit:4341137] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:8987656] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9657908] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9715482] Weiser, JD [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | COL11A2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8992370] ENSEMBL:ENSG00000204248 COL11A2 [Homo sapiens] |
| secondaryIdentifier | COBA2_HUMAN A6NLX2 E7ER90 Q07751 Q13271 Q13272 Q13273 Q5JP94 Q5SUI8 Q7Z6C3 Q99866 Q9UIP9 |
| sequenceLength | 1736 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P13942-2 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P13942-2 COL11A2 (144866)
