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Tbio
COL6A3
Collagen alpha-3(VI) chain

Protein Classes
Protein Summary
Description
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
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000295550
  • ENSP00000295550
  • ENSG00000163359
  • ENST00000353578
  • ENSP00000315873
  • ENST00000392003
  • ENSP00000375860
  • ENST00000392004
  • ENSP00000375861
  • ENST00000409809
  • ENSP00000386844
  • ENST00000472056
  • ENSP00000418285

Symbol
  • DYT27
  • UCMD1
  • BTHLM1
Illumination Graph
Knowledge Table
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 118.88   (req: < 5)
Gene RIFs: 33   (req: <= 3)
Antibodies: 59   (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: 118.88   (req: >= 5)
Gene RIFs: 33   (req: > 3)
Antibodies: 59   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
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 (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
1
0
25
84
1
1
0
50
70.5
Ischemic stroke
1
1
0
12.5
30.8
intraocular pressure measurement
1
1
1
29.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
25
84
0
50
70.5
Ischemic stroke
0
12.5
30.8
intraocular pressure measurement
1
29.8
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
Protein Data Bank (4)
1 – 4 of 4
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (27)
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 12
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
Protein-Protein Interactions (152)
1 – 10 of 152
COL6A1
Tbio
Novelty: 0.00644855
Score: 0.99
Data Source: STRINGDB
COL6A2
Tbio
Novelty: 0.01275082
Score: 0.989
Data Source: STRINGDB
COL1A2
Tbio
Novelty: 0.00048334
Score: 0.988
Data Source: STRINGDB
COL3A1
Tbio
Novelty: 0.00197327
Score: 0.985
Data Source: STRINGDB
COL1A1
Tbio
Novelty: 0.00063584
Score: 0.982
Data Source: STRINGDB
COL5A1
Tbio
Novelty: 0.00506815
Score: 0.974
Data Source: STRINGDB
COL5A2
Tbio
Novelty: 0.01352973
Score: 0.971
Data Source: STRINGDB
ITGB1
Tclin
Novelty: 0.00055626
Score: 0.952
Data Source: STRINGDB
COL8A1
Tbio
Novelty: 0.02203574
Score: 0.949
Data Source: STRINGDB
COL15A1
Tbio
Novelty: 0.04078006
Score: 0.943
Data Source: STRINGDB
Publication Statistics
PubMed Score  118.88

PubMed score by year
PubTator Score  64.6

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