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Tbio
COL11A2
Collagen alpha-2(XI) chain

Protein Summary
Description
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. 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 200 ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000383087
  • ENSP00000372565
  • ENSG00000227801
  • ENST00000383088
  • ENSP00000372566
  • ENSG00000206290
  • ENST00000395194
  • ENSP00000378620
  • ENSG00000204248
  • ENST00000439039
  • ENSP00000410284
  • ENST00000447741
  • ENSP00000400813
  • ENSG00000235708
  • ENST00000452937
  • ENSP00000406347
  • ENSG00000230930
  • ENST00000549811
  • ENSP00000449275
  • ENST00000551542
  • ENSP00000447864

Symbol
  • HKE5
  • PARP
  • STL3
  • FBCG2
  • DFNA13
  • DFNB53
  • OSMEDA
  • OSMEDB
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
phenotype
0.74
cell line
0.72
disease
0.68
disease perturbation
0.68
gene perturbation
0.65


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 99.32   (req: < 5)
Gene RIFs: 24   (req: <= 3)
Antibodies: 248   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 99.32   (req: >= 5)
Gene RIFs: 24   (req: > 3)
Antibodies: 248   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (9)
Items per page:
1 – 5 of 9
GWAS Trait
EFO ID
ENSG ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
1
1
1
60
self reported educational attainment
1
1
1
60
self reported educational attainment
1
1
1
60
body height
1
1
1
45.4
body height
1
1
1
45.4
Items per page:
1 – 5 of 9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
1
60
self reported educational attainment
1
60
self reported educational attainment
1
60
body height
1
45.4
body height
1
45.4
Pathways (21)
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Assembly of collagen fibrils and other multimeric structures
Reactome
Collagen biosynthesis and modifying enzymes
Reactome
Collagen chain trimerization
Reactome
Collagen formation
Reactome
Extracellular matrix organization
Name
Explore in Pharos
Explore in Source
Assembly of collagen fibrils and other multimeric structures
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Collagen formation
Extracellular matrix organization
Gene Ontology Terms (18)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from High Throughput Direct Assay (HDA)
BHF-UCL
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Non-traceable Author Statement (NAS)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (155)
1 – 10 of 155
P3H1
Tbio
Family: Enzyme
Novelty: 0.02067711
Score: 0.942
Data Source: STRINGDB
COLGALT2
Tbio
Family: Enzyme
Novelty: 0.15981994
Score: 0.939
Data Source: STRINGDB
COL9A2
Tbio
Novelty: 0.01711515
Score: 0.935
Data Source: STRINGDB
COL9A1
Tbio
Novelty: 0.0160066
Score: 0.932
Data Source: STRINGDB
COL9A3
Tbio
Novelty: 0.02556037
Score: 0.932
Data Source: STRINGDB
COL1A2
Tbio
Novelty: 0.00048334
Score: 0.928
Data Source: STRINGDB
COL22A1
Tbio
Novelty: 0.12180316
Score: 0.926
Data Source: STRINGDB
COL10A1
Tbio
Novelty: 0.00521991
Score: 0.925
Data Source: STRINGDB
PLOD1
Tbio
Family: Enzyme
Novelty: 0.00905345
Score: 0.924
Data Source: STRINGDB
COL21A1
Tbio
Novelty: 0.1583142
Score: 0.924
Data Source: STRINGDB
Publication Statistics
PubMed Score  99.32

PubMed score by year
PubTator Score  774.67

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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