Gene
mafba
- ID
- ZDB-GENE-980526-515
- Name
- MAF bZIP transcription factor Ba
- Symbol
- mafba Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including hindbrain development; lymphangiogenesis; and pronephric glomerulus development. Predicted to be active in nucleus. Is expressed in several structures, including hindbrain; hindbrain neural keel; neural plate; renal system; and vein. Human ortholog(s) of this gene implicated in Duane retraction syndrome and multicentric carpotarsal osteolysis syndrome. Orthologous to human MAFB (MAF bZIP transcription factor B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 70 figures from 57 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 31 figures from 18 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multicentric carpotarsal osteolysis syndrome | Alliance | Multicentric carpotarsal osteolysis syndrome | 166300 |
| Duane retraction syndrome 3 | 617041 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004826 | Basic leucine zipper domain, Maf-type |
| Domain | IPR004827 | Basic-leucine zipper domain |
| Domain | IPR013592 | Maf transcription factor, N-terminal |
| Family | IPR024874 | Transcription factor Maf family |
| Homologous_superfamily | IPR008917 | Transcription factor, Skn-1-like, DNA-binding domain superfamily |
| Homologous_superfamily | IPR046347 | Basic-leucine zipper domain superfamily |
Domain Details Per Protein
| Protein | Length | Basic-leucine zipper domain | Basic leucine zipper domain, Maf-type | Basic-leucine zipper domain superfamily | Maf transcription factor, N-terminal | Transcription factor Maf family | Transcription factor, Skn-1-like, DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q98UK5
|
356 | ||||||
|
UniProtKB:A0A2U3TVD3
|
397 |
- Genome Browsers
Interactions and Pathways
Plasmids
No data available