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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
collagen type V alpha 2 chain
Summary
- Gene Symbol
-
- COL5A2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Calcium
- Collagen
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Ehlers-Danlos syndrome
- Extracellular matrix
- Glycoprotein
- Hydroxylation
- Metal-binding
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P05997 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| eye morphogenesis | ||
| negative regulation of endodermal cell differentiation | ||
| collagen fibril organization | ||
| cellular response to amino acid stimulus | ||
| extracellular matrix organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix | ||
| collagen-containing extracellular matrix | ||
| endoplasmic reticulum lumen | ||
| extracellular region | ||
| collagen type XI trimer |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| SMAD binding | ||
| metal ion binding | ||
| extracellular matrix structural constituent conferring tensile strength |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- collagen alpha
- Functional Category
-
- E: Amino acid transport and metabolism
- I: Lipid transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| extracellular matrix organization |
| extracellular matrix structural constituent conferring tensile strength |
| extracellular matrix structural constituent |
| InterPro |
|---|
| Collagen triple helix repeat |
| Fibrillar collagen, C-terminal |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080726 | Ehlers-Danlos syndrome classic type 2 | |
| DOID:13207 | proliferative diabetic retinopathy | |
| DOID:13359 | Ehlers-Danlos syndrome | |
| DOID:14720 | Ehlers-Danlos syndrome classic type 1 | |
| DOID:850 | lung disease |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 12832 | MGI:88458 | MOUSE27408 | ||
| 85250 | RGD:70921 | RATNO42341 | ||
| 459817 | 9598_0:000d5f | PANTR29350 | ||
| 478836 | CANLF14045 | |||
| 564821 | ZFIN:ZDB-GENE-030616-13 | DANRE45042 | ||
| 712935 | MACMU06868 | |||
| 100006366 | ZFIN:ZDB-GENE-110406-2 | |||
| 100054421 | HORSE13462 | |||
| 100084038 | ORNAN25471 | |||
| 100223323 | TAEGU28524 |
