Gene
matn3b
- ID
- ZDB-GENE-050221-9
- Name
- matrilin 3b
- Symbol
- matn3b Nomenclature History
- Previous Names
-
- zgc:123028
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 5; osteoarthritis; and osteochondrodysplasia. Is expressed in hypochord and notochord. Orthologous to human MATN3 (matrilin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7157032 (3 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multiple epiphyseal dysplasia 5 | Alliance | Epiphyseal dysplasia, multiple, 5 | 607078 |
| Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type | 608728 | ||
| {Osteoarthritis susceptibility 2} | 140600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR002035 | von Willebrand factor, type A |
| Domain | IPR019466 | Matrilin, coiled-coil trimerisation domain |
| Family | IPR050525 | Extracellular Matrix Assembly and Organization |
| Homologous_superfamily | IPR036337 | Matrilin, coiled-coil domain superfamily |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
Domain Details Per Protein
| Protein | Length | EGF-like domain | Extracellular Matrix Assembly and Organization | Matrilin, coiled-coil domain superfamily | Matrilin, coiled-coil trimerisation domain | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5NIW0
|
478 | ||||||
|
UniProtKB:Q5NJJ6
|
343 | ||||||
|
UniProtKB:Q5NJJ7
|
299 | ||||||
|
UniProtKB:B7ZD91
|
434 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
matn3b-201
(1)
|
Ensembl | 1,144 nt | ||
| mRNA |
matn3b-202
(1)
|
Ensembl | 1,484 nt | ||
| mRNA |
matn3b-203
(1)
|
Ensembl | 1,352 nt | ||
| mRNA |
matn3b-204
(1)
|
Ensembl | 1,099 nt |
Interactions and Pathways
No data available
Plasmids
No data available