COL11A2

GENE INFORMATION

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Gene name

COL11A2 (HGNC Symbol)

Synonyms

DFNA13, DFNB53, HKE5

Description

Collagen, type XI, alpha 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

p21.32

Chromosome location (bp)

33162681 - 33192499

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000204248 (version 78.38)

Entrez gene

1302

UniProt

P13942 (UniProt - Evidence at protein level)

neXtProt

NX_P13942

Antibodypedia

COL11A2 antibodies
 

PROTEIN VIEW

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COL11A2-001
 
COL11A2-002
 
COL11A2-003
 
COL11A2-201
 
COL11A2-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL11A2-001 ENSP00000363840
ENST00000374708
Q4VXY6
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Show » Show » 1650 162.2 Yes 0
COL11A2-002 ENSP00000405520
ENST00000457788
A2AAS7
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Show » 624 65.3 Yes 0
COL11A2-003 ENSP00000378620
ENST00000395194
P13942
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Show » Show » 290 32 Yes 0
COL11A2-201 ENSP00000339915
ENST00000341947
P13942
Show all »
Show » Show » 1736 171.8 Yes 0
COL11A2-202 ENSP00000355123
ENST00000361917
H0YIS1
Show all »
Show » Show » 1629 159.9 Yes 0