Gene
med12
- ID
- ZDB-GENE-060125-1
- Name
- mediator complex subunit 12
- Symbol
- med12 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity. Involved in several processes, including animal organ development; embryonic pectoral fin morphogenesis; and iridophore differentiation. Predicted to localize to mediator complex. Human ortholog(s) of this gene implicated in FG syndrome; leiomyosarcoma; mental depression; and syndromic X-linked intellectual disability. Is expressed in several structures, including brain; head; immature eye; intermediate cell mass of mesoderm; and liver. Orthologous to several human genes including MED12 (mediator complex subunit 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 41 figures from 15 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| FG syndrome | Alliance | Opitz-Kaveggia syndrome | 305450 |
| Ohdo syndrome | Alliance | Ohdo syndrome, X-linked | 300895 |
| syndromic X-linked intellectual disorder Lujan-Fryns-type | Alliance | Lujan-Fryns syndrome | 309520 |
| Hardikar syndrome | 301068 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Mediator complex subunit 12 | Mediator complex, subunit Med12 | Mediator complex, subunit Med12, catenin-binding | Mediator complex, subunit Med12, LCEWAV-domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IBL3
|
2175 | ||||
|
UniProtKB:Q2QCI8
|
2173 | ||||
|
UniProtKB:A0A8M3AHU7
|
2178 | ||||
|
UniProtKB:A0A8M3B095
|
2179 |
Interactions and Pathways
No data available
Plasmids
No data available