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 have DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including hindbrain development; lymphangiogenesis; and pronephric glomerulus development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Duane retraction syndrome and multicentric carpotarsal osteolysis syndrome. Is expressed in several structures, including hindbrain; hindbrain neural keel; neural plate; renal system; and vein. Orthologous to human MAFB (MAF bZIP transcription factor B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 69 figures from 56 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 17 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