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Mafb Gene Detail
Summary
  • Symbol
    Mafb
  • Name
    MAF bZIP transcription factor B
  • Synonyms
    Kreisler, Krml, Krml1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104555
    NCBI Gene: 16658
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:160205623-160208985 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 80.92 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    32 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104555
 protein coding gene Chr2:160205597-160208985 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026803
 protein coding gene Chr2:165537172-165540538 (-)
A/J MGP_AJ_G0026769
 protein coding gene Chr2:158891865-158895552 (-)
AKR/J MGP_AKRJ_G0026740
 protein coding gene Chr2:163592203-163595541 (-)
BALB/cJ MGP_BALBcJ_G0026778
 protein coding gene Chr2:159209015-159212367 (-)
C3H/HeJ MGP_C3HHeJ_G0026520
 protein coding gene Chr2:163928194-163931562 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027227
 protein coding gene Chr2:170425725-170430161 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024597
 protein coding gene Chr2:152270428-152273803 (-)
CAST/EiJ MGP_CASTEiJ_G0025982
 protein coding gene Chr2:164280089-164283471 (-)
CBA/J MGP_CBAJ_G0026497
 protein coding gene Chr2:176564952-176568392 (-)
DBA/2J MGP_DBA2J_G0026635
 protein coding gene Chr2:158075551-158078889 (-)
FVB/NJ MGP_FVBNJ_G0026602
 protein coding gene Chr2:156477639-156480997 (-)
LP/J MGP_LPJ_G0026738
 protein coding gene Chr2:165647115-165650479 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026623
 protein coding gene Chr2:180292734-180296072 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027283
 protein coding gene Chr2:163427179-163430517 (-)
PWK/PhJ MGP_PWKPhJ_G0025716
 protein coding gene Chr2:157617977-157621439 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025519
 protein coding gene Chr2:162313373-162316752 (-)
WSB/EiJ MGP_WSBEiJ_G0026052
 protein coding gene Chr2:164327629-164330967 (-)



Homology
more
  • Human Ortholog
    MAFB, MAF bZIP transcription factor B
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAFB, MAF bZIP transcription factor B
  • Synonyms
    DURS3, KRML, MCTO
  • Links
    NCBI Gene ID: 9935
    neXtProt AC: NX_Q9Y5Q3
    UniProt: Q9Y5Q3

  • Chr Location
    20q12; chr20:40685848-40689236 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Mafb mouse models; 2 with human MAFB associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    75 phenotypes from 11 alleles in 12 genetic backgrounds
    4 phenotypes from multigenic genotypes
    90 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.
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. Homozygous KO mice die shortly after birth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    43
  • GO References
    17
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1333
  • Tissues
    317
  • cDNA Data
    29
  • Literature Summary
    173
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074622 Ensembl Gene Model | MGI Sequence Detail 3363 C57BL/6J ±  kb
    transcript ENSMUST00000099126 Ensembl | MGI Sequence Detail 3363 Not Applicable  
    polypeptide ENSMUSP00000096728 Ensembl | MGI Sequence Detail 323 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 74
      Genomic 17
      cDNA 33
      Primer pair 10
      Other 14

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-11595, MGD-MRK-25987
    References
    more
    • Summaries
      All 282
      Developmental Gene Expression 173
      Diseases 2
      Gene Ontology 17
      Phenotypes 90
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
    • Latest
      J:344351 Deska-Gauthier D, et al., Embryonic temporal-spatial delineation of excitatory spinal V3 interneuron diversity. Cell Rep. 2023 Dec 29;43(1):113635
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory