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Mafa Gene Detail
Summary
  • Symbol
    Mafa
  • Name
    MAF bZIP transcription factor A
  • Synonyms
    RIPE3b1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2673307
    NCBI Gene: 378435
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:75617339-75620077 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 34.82 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    127 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2673307
 protein coding gene Chr15:75617339-75620170 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021958
 protein coding gene Chr15:75773841-75774920 (-)
A/J MGP_AJ_G0021916
 protein coding gene Chr15:73028592-73029671 (-)
AKR/J MGP_AKRJ_G0021899
 protein coding gene Chr15:74992887-74993966 (-)
BALB/cJ MGP_BALBcJ_G0021925
 protein coding gene Chr15:73041010-73042089 (-)
C3H/HeJ MGP_C3HHeJ_G0021697
 protein coding gene Chr15:75057066-75058145 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022365
 protein coding gene Chr15:78608072-78609151 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019896
 protein coding gene Chr15:69704462-69705541 (-)
CAST/EiJ MGP_CASTEiJ_G0021216
 protein coding gene Chr15:75839377-75840456 (-)
CBA/J MGP_CBAJ_G0021664
 protein coding gene Chr15:81135126-81136205 (-)
DBA/2J MGP_DBA2J_G0021789
 protein coding gene Chr15:72542801-72543880 (-)
FVB/NJ MGP_FVBNJ_G0021770
 protein coding gene Chr15:71603366-71604445 (-)
LP/J MGP_LPJ_G0021860
 protein coding gene Chr15:75867548-75868627 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021794
 protein coding gene Chr15:86420265-86421344 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022385
 protein coding gene Chr15:75243043-75244122 (-)
PWK/PhJ MGP_PWKPhJ_G0020957
 protein coding gene Chr15:72683674-72684753 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020796
 protein coding gene Chr15:74976144-74977223 (-)
WSB/EiJ MGP_WSBEiJ_G0021268
 protein coding gene Chr15:75329297-75330376 (-)



Homology
more
  • Human Ortholog
    MAFA, MAF bZIP transcription factor A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAFA, MAF bZIP transcription factor A
  • Synonyms
    hMafA, INSDM, RIPE3b1
  • Links
    NCBI Gene ID: 389692
    neXtProt AC: NX_Q8NHW3
    UniProt: Q8NHW3

  • Chr Location
    8q24.3; chr8:143419182-143430732 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Mafa mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    55 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.
Homozygous mutant mice exhibit glucose intolerance and develop diabetes mellitus. Glucose-stimulated insulin secretion is severely impaired and mutant mice display pancreatic islet abnormalities as they age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    8
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
membraneless 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
    839
  • Tissues
    55
  • cDNA Data
    11
  • Literature Summary
    109
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000047591 Ensembl Gene Model | MGI Sequence Detail 2739 C57BL/6J ±  kb
    transcript ENSMUST00000062002 Ensembl | MGI Sequence Detail 2739 Not Applicable  
    polypeptide ENSMUSP00000054226 Ensembl | MGI Sequence Detail 359 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 11
      Primer pair 7
      Other 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 197
      Developmental Gene Expression 109
      Diseases 2
      Gene Ontology 8
      Phenotypes 55
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:355694 Davidson RK, et al., The SWI/SNF chromatin remodelling complex regulates pancreatic endocrine cell expansion and differentiation in mice in vivo. Diabetologia. 2024 Oct;67(10):2275-2288
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory