Free for academic non-profit institutions. Other users need a Commercial license
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]
COL11A2 (Collagen Type XI Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL11A2 include Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive and Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL5A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 17703188 |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | NAS,RCA | 28675934 |
GO:0030674 | protein binding, bridging | NAS | 10677296 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005581 | collagen trimer | IEA,IBA | 21873635 |
GO:0005592 | collagen type XI trimer | NAS | 7859284 |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
5 | Degradation of the extracellular matrix |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | NAS | 7859284 |
GO:0001649 | osteoblast differentiation | IEA | -- |
GO:0001894 | tissue homeostasis | IEA | -- |
GO:0002062 | chondrocyte differentiation | IEA | -- |
GO:0007605 | sensory perception of sound | IBA,IMP | 9188673 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL11A2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL11A2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COL11A2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL11A2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Col11a2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col11a2 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | COL11A2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | col11a2 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637964 | Uncertain Significance: Deafness, autosomal dominant 13 | 33,189,455(-) | C/T | MISSENSE_VARIANT | |
667099 | Likely Benign: not specified | 33,165,754(-) | C/T | SYNONYMOUS_VARIANT | |
667100 | Likely Benign: not specified | 33,176,295(-) | G/A | SYNONYMOUS_VARIANT | |
667101 | Likely Benign: not specified | 33,189,446(-) | G/A | MISSENSE_VARIANT | |
667219 | Uncertain Significance: not specified | 33,163,768(-) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10609n54 | CNV | loss | 21841781 |
nsv1073969 | CNV | deletion | 25765185 |
nsv1112900 | CNV | deletion | 24896259 |
nsv1119076 | CNV | deletion | 24896259 |
nsv348539 | CNV | deletion | 16902084 |
nsv476496 | CNV | novel sequence insertion | 20440878 |
nsv528907 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
otospondylomegaepiphyseal dysplasia, autosomal recessive |
|
|
otospondylomegaepiphyseal dysplasia, autosomal dominant |
|
|
deafness, autosomal dominant 13 |
|
|
deafness, autosomal recessive 53 |
|
|
fibrochondrogenesis 2 |
|