COL6A3
Collagen alpha-3(VI) chain
Protein Summary
Collagen VI acts as a cell-binding protein. This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more ...more
- ENST00000295550
- ENSP00000295550
- ENSG00000163359
- ENST00000353578
- ENSP00000315873
- ENST00000392003
- ENSP00000375860
- ENST00000392004
- ENSP00000375861
- ENST00000409809
- ENSP00000386844
- ENST00000472056
- ENSP00000418285
- DYT27
- UCMD1
- BTHLM1
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
gene perturbation | 0.96 | ||
protein domain | 0.85 | ||
disease perturbation | 0.83 | ||
disease | 0.71 | ||
PubMedID | 0.61 | ||
Protein Classes
IDG Development Level Summary
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: 145.13 (req: < 5)
Gene RIFs: 33 (req: <= 3)
Antibodies: 59 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 145.13 (req: >= 5)
Gene RIFs: 33 (req: > 3)
Antibodies: 59 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 6
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (152)
Nearest Tclin Targets
Pathways (27)
Reactome (12)
KEGG (5)
PathwayCommons (5)
WikiPathways (5)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Assembly of collagen fibrils and other multimeric structures | ||||
Reactome | Axon guidance | ||||
Reactome | Collagen biosynthesis and modifying enzymes | ||||
Reactome | Collagen chain trimerization | ||||
Reactome | Collagen formation | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Assembly of collagen fibrils and other multimeric structures | ||||
Axon guidance | ||||
Collagen biosynthesis and modifying enzymes | ||||
Collagen chain trimerization | ||||
Collagen formation | ||||
Viral Interactions (0)
Gene Ontology Terms (15)
Functions (2)
Components (9)
Processes (4)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from High Throughput Direct Assay (HDA) | BHF-UCL | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-KW | |||
Disease Associations (null)
GWAS Traits (11)
Items per page:
1 – 5 of 11
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
3 | 3 | 2 | 25 | 95.2 | |||||
central corneal thickness | 2 | 3 | 0 | 2.7 | 95 | ||||
heel bone mineral density | 3 | 4 | 6 | 94 | |||||
intraocular pressure measurement | 2 | 3 | 3 | 90.5 | |||||
5 | 4 | 0 | 1.1 | 85.7 | |||||
Items per page:
1 – 5 of 11
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
2 | 25 | 95.2 | |||||
central corneal thickness | 0 | 2.7 | 95 | ||||
heel bone mineral density | 6 | 94 | |||||
intraocular pressure measurement | 3 | 90.5 | |||||
0 | 1.1 | 85.7 | |||||
Find similar targets by:
IDG Resources
Orthologs (13)
1 – 5 of 13
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | collagen type VI alpha 3 chain | VGNC:10726 | 460045 | |||||
Macaque | collagen type VI alpha 3 chain | 694701 | ||||||
Mouse | MGI:88461 | 12835 | ||||||
Dog | collagen type VI alpha 3 chain | VGNC:39481 | 403582 | |||||
Horse | collagen type VI alpha 3 chain | VGNC:16748 | 100066356 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | collagen type VI alpha 3 chain | |||||
Macaque | collagen type VI alpha 3 chain | |||||
Mouse | ||||||
Dog | collagen type VI alpha 3 chain | |||||
Horse | collagen type VI alpha 3 chain | |||||
Publication Statistics
PubMed Score 145.13
PubMed score by year
PubTator Score 64.60
PubTator score by year
Related Publications
Text Mined References (69)
GeneRif Annotations (33)
Items per page:
0 of 0
PMID | Year | Title |
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