ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be located in extracellular region. Predicted to be part of matrilin complex. Predicted to be active in extracellular matrix. Is expressed in hypochord and notochord. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 5; osteoarthritis; osteochondrodysplasia; and spondyloepimetaphyseal dysplasia. 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 | Additional Resources | 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 | InterPro | 478 | ||||||
| UniProtKB:Q5NJJ6 | InterPro | 343 | ||||||
| UniProtKB:Q5NJJ7 | InterPro | 299 | ||||||
| UniProtKB:B7ZD91 | InterPro | 434 | ||||||
| UniProtKB:A0AC58H0Y0 | InterPro | 249 | ||||||
| UniProtKB:A0AC58H0Y1 | InterPro | 299 |
- Genome Browsers
| 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
- Genome Browsers