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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:0080046 | Stickler syndrome | |
| DOID:0080047 | pseudoachondroplasia | |
| DOID:0110029 | alpha thalassemia-intellectual disability syndrome type 1 | |
| DOID:0110030 | alpha thalassemia-X-linked intellectual disability syndrome | |
| DOID:0110031 | hemoglobin H disease | |
| DOID:0110213 | isolated cleft palate | |
| DOID:0111350 | Laurin-Sandrow syndrome | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:10041 | dysplastic nevus syndrome | |
| DOID:10241 | thalassemia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003301 | Irregular vertebral endplates |
| HP:0003365 | Arthralgia of the hip |
| HP:0003502 | Mild short stature |
| HP:0003946 | Abnormality of the epiphyses of the elbow |
| HP:0003999 | Abnormality of radial epiphyses |
| HP:0004279 | Short palm |
| HP:0004322 | Short stature |
| HP:0005086 | Knee osteoarthritis |
| HP:0005715 | Flattened knee epiphyses |
| HP:0005930 | Abnormal epiphysis morphology |
| 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 |
|---|---|---|---|
| 105812281 | PROCO18688 |
