Version 5.4
Homo sapiens Gene: COL11A2
Summary
InnateDB Gene IDBG-82068.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL11A2
Gene Name collagen, type XI, alpha 2
Synonyms DFNA13; DFNB53; FBCG2; HKE5; PARP; STL3
Species Homo sapiens
Ensembl Gene ENSG00000204248
Encoded Proteins
IDBP-82070
collagen, type XI, alpha 2
IDBP-82080
collagen, type XI, alpha 2
IDBP-82082
collagen, type XI, alpha 2
IDBP-239920
collagen, type XI, alpha 2
IDBP-375298
collagen, type XI, alpha 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:33162681-33192499
Strand Reverse strand
Band p21.32
Transcripts
ENST00000341947 ENSP00000339915
ENST00000361917 ENSP00000355123
ENST00000374708 ENSP00000363840
ENST00000395194 ENSP00000378620
ENST00000457788 ENSP00000405520
ENST00000477772
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030674 protein binding, bridging
GO:0046872 metal ion binding
Biological Process
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001894 tissue homeostasis
GO:0002062 chondrocyte differentiation
GO:0007605 sensory perception of sound
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0048705 skeletal system morphogenesis
GO:0051216 cartilage development
GO:0060021 palate development
GO:0060023 soft palate development
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005592 collagen type XI trimer
GO:0005788 endoplasmic reticulum lumen
GO:0005840 ribosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024330
View Gene Order
ENSBTAG00000000601
Not yet available
Pathways
NETPATH
REACTOME
REACT_150180
Assembly of collagen fibrils and other multimeric structures pathway
REACT_121139
Collagen biosynthesis and modifying enzymes pathway
REACT_150401
Collagen degradation pathway
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
REACT_163874
Non-integrin membrane-ECM interactions pathway
REACT_120729
Collagen formation pathway
KEGG
hsa04512
ECM-receptor interaction pathway
hsa04510
Focal adhesion pathway
hsa05146
Amoebiasis pathway
hsa04974
Protein digestion and absorption pathway
INOH
INOH website
Integrin signaling pathway pathway
PID NCI
integrin1_pathway
Beta1 integrin cell surface interactions
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.390171
RefSeq NM_001163771 NM_080679 NM_080680 NM_080681
HUGO
OMIM
CCDS CCDS43452 CCDS54992
HPRD 09049
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca