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matrilin 3
Summary
- Gene Symbol
-
- MATN3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Coiled coil
- Disease variant
- Disulfide bond
- Dwarfism
- EGF-like domain
- Methylation
- Phosphoprotein
- Reference proteome
- Repeat
- Secreted
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| O15232 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development | ||
| extracellular matrix organization | ||
| extracellular matrix organization | ||
| cartilage development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| endoplasmic reticulum lumen | ||
| extracellular matrix | ||
| collagen-containing extracellular matrix | ||
| collagen-containing extracellular matrix |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix structural constituent | ||
| calcium ion binding | ||
| protein binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- matrilin
- Functional Category
-
- E: Amino acid transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| calcium ion binding |
| InterPro |
|---|
| von Willebrand factor A-like domain superfamily |
| von Willebrand factor, type A |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070299 | multiple epiphyseal dysplasia 5 | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:8398 | osteoarthritis |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 4147 | WB:WBGene00003497 | ||
| 4148 | Xenbase:XB-GENE-985172 | ||
| 17180 | WB:WBGene00003497 | ||
| 17182 | Xenbase:XB-GENE-985172 | MOUSE09702 | |
| 17183 | WB:WBGene00003482 | ||
| 176060 | WB:WBGene00003497 | ||
| 176430 | WB:WBGene00003482 | ||
| 313954 | RATNO35846 | ||
| 459514 | PANTR27115 | ||
| 482985 | CANLF04907 |
