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
- Enables sequence-specific DNA binding activity. Acts upstream of or within regulation of myeloid leukocyte differentiation and skeletal system development. Predicted to be active in nucleus. Is expressed in several structures, including immune system; mesoderm; nervous system; pleuroperitoneal region; and vein. Human ortholog(s) of this gene implicated in Duane retraction syndrome 3 and multicentric carpotarsal osteolysis syndrome. 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 |
|---|---|---|---|
| Duane retraction syndrome 3 | Alliance | Duane retraction syndrome 3 | 617041 |
| multicentric carpotarsal osteolysis syndrome | Alliance | Multicentric carpotarsal osteolysis syndrome | 166300 |
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