Gene
matn3a
- ID
- ZDB-GENE-040822-21
- Name
- matrilin 3a
- Symbol
- matn3a Nomenclature History
- Previous Names
-
- ns:zf-e359
- si:dkeyp-50f7.4
- zgc:101120
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. 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 notochord; skeletal system; and vertebra. Orthologous to human MATN3 (matrilin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7148317 (4 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 |
Domain | IPR026823 | Complement Clr-like EGF 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 | Complement Clr-like EGF domain | 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:F1QH94
|
295 | |||||||
UniProtKB:Q68EK6
|
337 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
matn3a-201
(1)
|
Havana | 1463 nt | |
mRNA |
matn3a-202
(1)
|
Ensembl | 1414 nt | |
mRNA |
matn3a-203
(1)
|
Havana | 1954 nt | |
mRNA |
matn3a-204
(1)
|
Havana | 1974 nt | |
mRNA |
matn3a-205
(1)
|
Havana | 740 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-matn3a | polyclonal | Rabbit |
|
2 |
Plasmids
No data available