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Mafa Gene Detail
Summary
  • Symbol
    Mafa
  • Name
    v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A (avian)
  • Synonyms
    RIPE3b1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2673307
    NCBI Gene: 378435
  • Gene Overview
    MyGene.info: MAFA
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:75746843-75747922 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 34.82 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6 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 Chr15:75745490-75748228 (-)
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
    8
  • Human Ortholog
    MAFA, MAF bZIP transcription factor A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    hMafA, INSDM, RIPE3b1
  • Links
    NCBI Gene ID: 389692
    neXtProt AC: NX_Q8NHW3
    UniProt: Q8NHW3

  • Chr Location
    8q24.3; chr8:143428060-143430432 (-)  GRCh38.p7

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
    43 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 378435 NCBI Gene Model | MGI Sequence Detail 1080 C57BL/6J ±  kb
    transcript NM_194350 RefSeq | MGI Sequence Detail 1080 Not Specified  
    polypeptide Q8CF90 UniProt | EBI | MGI Sequence Detail 359 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 11
      Primer pair 5

      Microarray probesets 2
    References
    more
    • Summaries
      All 151
      Developmental Gene Expression 76
      Diseases 2
      Gene Ontology 9
      Phenotypes 43
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:257425 Kim DS, et al., GRP94 Is an Essential Regulator of Pancreatic beta-Cell Development, Mass, and Function in Male Mice. Endocrinology. 2018 Feb 1;159(2):1062-1073

    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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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory