Gene
mafbb
- ID
- ZDB-GENE-010605-4
- Name
- v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog Bb
- Symbol
- mafbb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Exhibits sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. 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 immune system; mesoderm; nervous system; pleuroperitoneal region; and vein. Orthologous to human MAFB (MAF bZIP transcription factor B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:114026 (16 images)
- eu239 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Han et al., 2021
- 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:Q6P5N3
|
318 |
Interactions and Pathways
No data available
Plasmids
No data available