Gene

mafbb

ID
ZDB-GENE-010605-4
Name
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog Bb
Symbol
mafbb Nomenclature History
Previous Names
  • SMaf2 (1)
  • krml2.2
  • krml2
  • Zkrml2 (1)
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
Expression
All Expression Data
21 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from Han et al., 2021
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mafbb Human Ortholog
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
Associated With mafbb Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations