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Mitf Gene Detail
Summary
  • Symbol
    Mitf
  • Name
    melanogenesis associated transcription factor
  • Synonyms
    BCC2, bHLHe32, Gsfbcc2, mi, wh
  • Feature Type
    protein coding gene
  • IDs
    MGI:104554
    NCBI Gene: 17342
  • Alliance
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:97807052-98021349 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 45.05 cM
  • Mapping Data
    38 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1592 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104554
protein coding gene Chr6:97807002-98021360 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031078
protein coding gene Chr6:99667862-99886029 (+)
A/J MGP_AJ_G0031047
protein coding gene Chr6:95891480-96118821 (+)
AKR/J MGP_AKRJ_G0030978
protein coding gene Chr6:98512364-98729549 (+)
BALB/cJ MGP_BALBcJ_G0031058
protein coding gene Chr6:95856215-96066674 (+)
C3H/HeJ MGP_C3HHeJ_G0030650
protein coding gene Chr6:85686337-85900032 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031517
protein coding gene Chr6:102196940-102420658 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028681
protein coding gene Chr6:93745615-93952206 (+)
CAST/EiJ MGP_CASTEiJ_G0030165
protein coding gene Chr6:98717207-98936261 (+)
CBA/J MGP_CBAJ_G0030744
protein coding gene Chr6:106079709-106304855 (+)
DBA/2J MGP_DBA2J_G0030897
protein coding gene Chr6:95033854-95242160 (+)
FVB/NJ MGP_FVBNJ_G0030851
protein coding gene Chr6:94206573-94415284 (+)
LP/J MGP_LPJ_G0030977
protein coding gene Chr6:99705773-99931272 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030885
protein coding gene Chr6:109988177-110212481 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031544
protein coding gene Chr6:98405888-98625684 (+)
PWK/PhJ MGP_PWKPhJ_G0029881
protein coding gene Chr6:94016317-94226985 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029709
protein coding gene Chr6:97304097-97530624 (+)
WSB/EiJ MGP_WSBEiJ_G0030249
protein coding gene Chr6:98889762-99112156 (+)



Homology
more
  • Human Ortholog
    MITF, melanocyte inducing transcription factor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MITF, melanocyte inducing transcription factor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bHLHe32, CMM8, COMMAD, MI, WS2, WS2A
  • Links
    NCBI Gene ID: 4286
    neXtProt AC: NX_O75030
    UniProt: O75030

  • Chr Location
    3p13; chr3:69739435-69968337 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 4892
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MITF
  • Gene Tree
Human Diseases
more
  • Diseases
    6 with Mitf mouse models; 4 with human MITF associations

Human Disease Mouse Models
      
IDs
View 14 models
IDs
View 14 models
IDs
View 14 models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    10 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    130 phenotypes from 39 alleles in 40 genetic backgrounds
    20 phenotypes from multigenic genotypes
    7 images
    186 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.
Mutations at this locus affect development of melanocytes, mast cells, osteoclasts and pigmented epithelium. Mutants variably display lack of pigment in coat and eye, microphthalmia, hearing loss, bone resorption anomalies, mast cell deficiency and lethality.
Gene Ontology
(GO)
Classifications
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  • 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 population 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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035158 Ensembl Gene Model | MGI Sequence Detail 214298 C57BL/6J ±  kb
    transcript ENSMUST00000043637 Ensembl | MGI Sequence Detail 4881 Not Applicable  
    polypeptide ENSMUSP00000044938 Ensembl | MGI Sequence Detail 526 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000010423 microphthalmia-associated transcription factor
    • PDB
    • InterPro Domains
      IPR024097 Basic helix-loop-helix leucine zipper transcription factor
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR030532 Microphthalmia-associated transcription factor
      IPR021802 MiT/TFE transcription factors, C-terminal
      IPR031867 MiT/TFE transcription factors, N-terminal
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 9
      cDNA 27
      Primer pair 6
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12229, MGD-MRK-15399, MGD-MRK-1691, MGD-MRK-25986, MGI:3530596
    References
    more
    • Summaries
      All 451
      Developmental Gene Expression 118
      Diseases 9
      Gene Ontology 19
      Phenotypes 186
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80:220-246
    • Latest
      J:265501 Kim H, et al., Ablation of Ezh2 in neural crest cells leads to aberrant enteric nervous system development in mice. PLoS One. 2018;13(8):e0203391

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory