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Mitf
Gene Detail
 Symbol
Name
ID
Mitf
microphthalmia-associated transcription factor
MGI:104554
Synonyms BCC2, bHLHe32, Gsfbcc2, mi, wh
Feature Type protein coding gene
Genetic Map
Chromosome 6
45.05 cM
Detailed Genetic Map ± 1 cM


Mapping data(38)
Sequence Map
Chr6:97807058-98021349 bp, + strand
From VEGA annotation of GRCm38

  214292 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4892  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Mitf

Human
homologs
Human Homolog MITF, microphthalmia-associated transcription factor
NCBI Gene ID 4286
neXtProt AC  NX_O75030
Human Synonyms  bHLHe32, CMM8, MI, WS2, WS2A
Human Chr (Location)  3p14.2-p14.1; chr3:69739435-69968337 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human MITF
Mutations,
alleles, and
phenotypes
All mutations/alleles(47) : Chemically induced (ENU)(7) Gene trapped(7) Radiation induced(3) Spontaneous(13) Targeted(15) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Mitf (5)    Alleles Annotated to Human Diseases(8)    Phenotype Images(7)
Interactions
Mitf interacts with 420 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process bone remodeling, camera-type eye development, ...
Component nucleus, protein complex
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (85 records)
Data Summary: Results (429)    Tissues (156)    Images (93)
Theiler Stages: 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 5
RNA in situ 316
RT-PCR 108
cDNA source data(23)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(38) Genomic(8) cDNA(25) Primer pair(4) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000023284 (Evidence)
Ensembl Gene ModelENSMUSG00000035158 (Evidence)
Entrez Gene17342 (Evidence)
DFCITC1586307, TC1599357, TC1612344, TC1746942
DoTSDT.101355139, DT.101364660, DT.110486994, DT.110487001, DT.110487005, DT.40173059, DT.55236720, DT.91335732, DT.97336272, DT.97397124
NIA Mouse Gene IndexU007215, U199498, U297687, U314299
PDB4ATH, 4ATI, 4ATK
Consensus CDS ProjectCCDS20385.1, CCDS51861.1, CCDS51862.1
International Mouse Knockout Project StatusMitf
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023284 VEGA Gene Model | MGI Sequence Detail 214292 C57BL/6J ±  kb
transcript OTTMUST00000056376 VEGA | MGI Sequence Detail 4881 Not Applicable 
polypeptide OTTMUSP00000027089 VEGA | MGI Sequence Detail 526 Not Applicable 

For the selected sequences
All sequences(112) RefSeq(32) UniProt(11)
Polymorphisms All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(1598 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR021802 Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Protein Ontology PR:000010423 microphthalmia-associated transcription factor
References (Earliest) J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80:220-246
(Latest) J:211299 Denecker G, et al., Identification of a ZEB2-MITF-ZEB1 transcriptional network that controls melanogenesis and melanoma progression. Cell Death Differ. 2014 Aug;21(8):1250-61
All references(385)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-12229, MGD-MRK-15399, MGD-MRK-1691, MGD-MRK-25986, MGI:3530596

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory