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collagen type VI alpha 2 chain
Summary
- Gene Symbol
-
- COL6A2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell adhesion
- Collagen
- Congenital muscular dystrophy
- Direct protein sequencing
- Disease variant
- Extracellular matrix
- Glycoprotein
- Hydroxylation
- Membrane
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P12110 |
|
| A0A384MDP3 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell adhesion |
|
|
| response to UV |
|
|
| response to glucose |
|
|
| phosphatidylinositol 3-kinase/protein kinase B signal transduction |
|
|
| neuron apoptotic process |
|
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| microfibril |
|
|
| extracellular region |
|
|
| extracellular region |
|
|
| extracellular region |
|
|
| collagen type VI trimer |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
|
|
| collagen binding |
|
|
| collagen binding |
|
|
| extracellular matrix structural constituent conferring tensile strength |
|
|
| extracellular matrix structural constituent conferring tensile strength |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- collagen
- Functional Category
-
- E: Amino acid transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
- T: Signal transduction mechanisms
| InterPro |
|---|
| von Willebrand factor A-like domain superfamily |
| von Willebrand factor, type A |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050663 | Bethlem myopathy | |
| DOID:0060942 | Ullrich congenital muscular dystrophy 1B |
