ZFIN is now using GRCz12tu for Genomic Data
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
- 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 notochord; skeletal system; and vertebra. 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
- 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 | Additional Resources | 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 | InterPro | 295 | |||||||
| UniProtKB:Q68EK6 | InterPro | 337 | |||||||
| UniProtKB:A0AC58I2L1 | InterPro | 295 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
matn3a-201
(1)
|
Ensembl | 1,463 nt | ||
| mRNA |
matn3a-202
(1)
|
Ensembl | 1,414 nt | ||
| mRNA |
matn3a-203
(1)
|
Ensembl | 1,954 nt | ||
| mRNA |
matn3a-204
(1)
|
Ensembl | 1,974 nt | ||
| mRNA |
matn3a-205
(1)
|
Ensembl | 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
- Genome Browsers