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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
collagen type IX alpha 2 chain
Summary
- Gene Symbol
-
- COL9A2
- Aliases
-
- MED
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Collagen
- Deafness
- Disease variant
- Disulfide bond
- Dwarfism
- Extracellular matrix
- Hydroxylation
- Proteoglycan
- Reference proteome
- Repeat
- Signal
- Stickler syndrome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q14055 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development |
|
|
| extracellular matrix organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum lumen |
|
|
| extracellular region |
|
|
| collagen-containing extracellular matrix | ||
| extracellular space | ||
| collagen type IX trimer |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein homodimerization activity | ||
| protein binding | ||
| extracellular matrix structural constituent conferring tensile strength |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0014667 | disease of metabolism | |
| DOID:0050452 | mevalonic aciduria | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | |
| DOID:0050902 | medulloblastoma | |
| DOID:0060224 | atrial fibrillation | |
| DOID:0060256 | Dowling-Degos disease | |
| DOID:0060258 | reticulate acropigmentation of Kitamura | |
| DOID:0070298 | multiple epiphyseal dysplasia 2 | |
| DOID:0080001 | bone disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006055 | Ulnar deviated club hands |
| HP:0006190 | Radially deviated wrists |
| HP:0007773 | Vitreoretinopathy |
| HP:0009189 | Fragmentation of the metacarpal epiphyses |
| HP:0009804 | Tooth agenesis |
| HP:0009826 | Limb undergrowth |
| HP:0010582 | Irregular epiphyses |
| HP:0010585 | Small epiphyses |
| HP:0010631 | Abnormality of the epiphyses of the feet |
| HP:0010665 | Bilateral coxa valga |
| Disease ID | Disease Name |
|---|---|
| OMIM:600204 |
|
| ORPHA:250984 |
|
| ORPHA:166002 |
|
| OMIM:614284 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100405504 | CALJA40137 | ||
| 105594700 | CERAT05852 | ||
| 102123592 | MACFA22715 | ||
| 694248 | MACMU21663 | ||
| 105494804 | MACNE01998 | ||
| 101007358 | PAPAN19548 | ||
| 105537944 | MANLE20398 | ||
| 101125128 | GORGO17552 | ||
| 100970548 | PANPA01077 | ||
| 456791 | PANTR20760 |
