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 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; chr3:69788586-70017488 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human MITF

Alleles and phenotypes

All alleles(48) : Targeted(15) Gene trapped(7) Transgenic(2) Spontaneous(13) Chemically induced(7) Radiation induced(3) Other(1)
 

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(6)

Gene Ontology (GO) classifications

All GO classifications: (38 annotations)

Process	bone remodeling, camera-type eye development, ...
Component	nucleus, protein complex
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (75 records)
Data Summary: Results (427)    Tissues (150)    Images (93)
Theiler Stages: 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 28

Assay Type	Results
Immunohistochemistry	5
RNA in situ	314
RT-PCR	108

cDNA source data(23)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(37) Genomic(8) cDNA(25) Primer pair(4)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000023284 (Evidence)
Ensembl Gene Model	ENSMUSG00000035158 (Evidence)
Entrez Gene	17342 (Evidence)
DFCI	TC1586307, TC1599357, TC1612344, TC1746942
DoTS	DT.101355139, DT.101364660, DT.110486994, DT.110487001, DT.110487005, DT.40173059, DT.55236720, DT.91335732, DT.97397124
NIA Mouse Gene Index	U007215, U199498, U297687, U314299
Consensus CDS Project	CCDS20385.1, CCDS51861.1, CCDS51862.1
International Mouse Knockout Project Status	Mitf

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023284	VEGA Gene Model | MGI Sequence Detail	214292	C57BL/6J
transcript	OTTMUST00000056376	VEGA | MGI Sequence Detail	4881	Not Applicable
polypeptide	OTTMUSP00000027089	VEGA | MGI Sequence Detail	526	Not Applicable

All sequences(83) RefSeq(6) UniProt(10)

Polymorphisms

All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs(215 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR024097	Basic helix-loop-helix leucine zipper transcription factor
InterPro	IPR021802	Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE
InterPro	IPR011598	Helix-loop-helix 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:194534 Chang CY, et al., NFIB is a governor of epithelial-melanocyte stem cell behaviour in a shared niche. Nature. 2013 Mar 7;495(7439):98-102
All references(368)

Other accession IDs

MGD-MRK-12229, MGD-MRK-15399, MGD-MRK-1691, MGD-MRK-25986, MGI:3530596