COL11A2

GENERAL INFORMATION

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Gene name

COL11A2

Gene description

Collagen, type XI, alpha 2

Protein class

Disease related genes
Plasma proteins
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (cerebral cortex, testis)
GTEx:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (cerebral cortex, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum)

Organ

Expression



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 BROWSER

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ENST00000341947
 
ENST00000361917
 
ENST00000374708
 
ENST00000395194
 
ENST00000457788
 
 
 
 


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
Show all »
Show » 624 65.3 Yes 0
COL11A2-003 ENSP00000378620
ENST00000395194
P13942
Show all »
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