NP_001157243.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
collagen alpha-2(XI) chain isoform 4
NCBI Official Synonym Full Names
collagen type XI alpha 2 chain
NCBI Official Synonym Symbols
HKE5; PARP; STL3; FBCG2; DFNA13; DFNB53 [Similar Products]
NCBI Protein Information
collagen alpha-2(XI) chain
UniProt Protein Name
Collagen alpha-2(XI) chain
NCBI Summary for 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]
UniProt Comments for COL11A2
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
Research Articles on COL11A2
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Pathways associated with anti-COL11A2 antibody
Diseases associated with anti-COL11A2 antibody
Organs/Tissues associated with anti-COL11A2 antibody
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