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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

HCOP human homology predictions: MITF
Gene Tree: Mitf

Human
homologs
MITF, microphthalmia-associated transcription factor
Orthology source: HomoloGene, HGNC

IDs:
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.p2

Disease Associations: (4) Diseases Associated with Human MITF

Mutations,
alleles, and
phenotypes
All mutations/alleles(49) : Chemically induced (ENU)(7) Gene trapped(7) Radiation induced(3) Spontaneous(14) Targeted(16) Transgenic(2)
Genomic Mutations involving Mitf (1)
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 in Mice Using Mitf (5)    Mutations Annotated to Human Diseases (9)    Phenotype Images(7)
Interactions
Mitf interacts with 419 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (52 annotations)
Process bone remodeling, camera-type eye development, ...
Component cytoplasm, nucleus, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (92 records)
Data Summary: Results (430)    Tissues (156)    Images (93)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 317
RT-PCR 108
cDNA source data(23)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA MITF ; Xenbase mitf ; ZFIN mitfa, mitfb    NEW 
Molecular
reagents
All nucleic(39) Genomic(8) cDNA(25) Primer pair(4) Other(2)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000023284 (Evidence)
Ensembl Gene Model ENSMUSG00000035158 (Evidence)
Entrez Gene 17342 (Evidence)
DFCI TC1586307, TC1612344, TC1599357, TC1746942
DoTS DT.101355139, DT.40173059, DT.110487005, DT.101364660, DT.110487001, DT.110486994, DT.97336272, DT.91335732, DT.55236720, DT.97397124
NIA Mouse Gene Index U314299, U297687, U199498, U007215
PDB 4ATH, 4ATI, 4ATK
Consensus CDS Project CCDS20385.1, CCDS51861.1, CCDS51862.1
International Mouse Phenotyping Consortium Status Mitf
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(106) RefSeq(26) 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:218165 Bankhead EJ, et al., Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. Am J Pathol. 2015 Jan;185(1):197-213
All references(393)
Disease annotation references (9)
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
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory