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Mafb Gene Detail
Summary
  • Symbol
    Mafb
  • Name
    v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian)
  • Synonyms
    Kreisler, Krml, Krml1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104555
    NCBI Gene: 16658
  • Gene Overview
    MyGene.info: MAFB
Location & Maps
more
  • Sequence Map
    Chr2:160363703-160367065 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      3363 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 80.92 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    MAFB, MAF bZIP transcription factor B
  • Vertebrate Orthologs
    8
  • Human Ortholog
    MAFB, MAF bZIP transcription factor B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DURS3, KRML, MCTO
  • Links
    NCBI Gene ID: 9935
    neXtProt AC: NX_Q9Y5Q3

  • Chr Location
    20q12; chr20:40685848-40689240 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    2 with human MAFB associations

Human Disease Mouse Models
       Duane Retraction Syndrome 3 with or without Deafness; DURS3   OMIM: 617041
Multicentric Carpotarsal Osteolysis Syndrome; MCTO   OMIM: 166300
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 7 alleles in 9 genetic backgrounds
    2 phenotypes from multigenic genotypes
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Radiation induced
    1
  • Targeted
    5
  • Incidental Mutations
    APF
Mutant homozygotes exhibit segmentation defects in the caudal hindbrain, loss of facial motor neurons, impaired inner ear development, arrested maturation of kidney podocytes, reduced fertility, and, in some cases, lethality at birth from apnea.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    25
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    455
  • Tissues
    257
  • cDNA Data
    28
  • Literature Summary
    116
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000001175 VEGA Gene Model | MGI Sequence Detail 3363 C57BL/6J ±  kb
transcript OTTMUST00000002303 VEGA | MGI Sequence Detail 3363 Not Applicable  
polypeptide OTTMUSP00000001132 VEGA | MGI Sequence Detail 323 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    32 from dbSNP Build 142
  • PCR
    1
  • RFLP
    1
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 63
    Genomic 17
    cDNA 31
    Primer pair 5
    Other 10

    Microarray probesets 8
Other
Accession IDs
less
MGD-MRK-11595, MGD-MRK-25987
References
more
  • Summaries
    All 171
    Developmental Gene Expression 116
    Gene Ontology 12
    Phenotypes 38
  • Earliest
    J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80:220-246
  • Latest
    J:234419 Bikoff JB, et al., Spinal Inhibitory Interneuron Diversity Delineates Variant Motor Microcircuits. Cell. 2016 Mar 24;165(1):207-19
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory