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
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
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
Allele Type Localization Consequence Mutagen Supplier
hkz56Allele with multiple variantsUnknownUnknownCRISPR
sa7349Allele with one point mutationUnknownMissenseENU
uq47bhAllele with one deletionUnknownUnknownCRISPR
zf3556Allele with one deletionExon 1UnknownCRISPR
zf3557Allele with one delinsUnknownUnknownCRISPR
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Sequence Targeting Reagents
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Human Disease
Associated With mafbb Human Ortholog
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
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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
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Domain Details Per Protein
Protein Additional Resources 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 InterPro 318
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 11
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA mafbb-201 (1) Ensembl 1,612 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg2(mafbb:EGFP)
  • mafbb
  • Danio rerio
1Han et al., 2021
Tg(mafbb:EGFP)
  • mafbb
  • Danio rerio
1Arnold et al., 2022
Tg(mfap4.1:mafbb-2A-DsRedx)
  • Danio rerio
1Lou et al., 2022
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Marker Relationships
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanMAFB20
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
Citations
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