Mus musculus Gene: Mitf
Summary
InnateDB Gene IDBG-172461.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mitf
Gene Name microphthalmia-associated transcription factor
Synonyms BCC2; Bhlhe32; bw; Gsfbcc2; mi; vit; Vitiligo; Wh;
Species Mus musculus
Ensembl Gene ENSMUSG00000035158
Encoded Proteins
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
microphthalmia-associated transcription factor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This transcription factor serves at a critical point between extracellular signaling and downstream targets in cell specification in early eye and neural crest development. Mutant alleles have been identified that generate distinct phenotypes. Some of these alleles are being used to model the human diseases Waardenburg syndrome IIa and Tietz syndrome. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:97807058-98021349
Strand Forward strand
Band D3
Transcripts
ENSMUST00000043637 ENSMUSP00000044938
ENSMUST00000101123 ENSMUSP00000098683
ENSMUST00000043628 ENSMUSP00000044459
ENSMUST00000113339 ENSMUSP00000108965
ENSMUST00000148233
ENSMUST00000144641
ENSMUST00000139462 ENSMUSP00000123433
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 29 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 29 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046983 protein dimerization activity
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006461 protein complex assembly
GO:0010468 regulation of gene expression
GO:0016055 Wnt signaling pathway
GO:0030154 cell differentiation
GO:0030316 osteoclast differentiation
GO:0030318 melanocyte differentiation
GO:0042127 regulation of cell proliferation
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0043473 pigmentation
GO:0044336 canonical Wnt signaling pathway involved in negative regulation of apoptotic process
GO:0045165 cell fate commitment
GO:0045670 regulation of osteoclast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046849 bone remodeling
Cellular Component
GO:0005634 nucleus
GO:0043234 protein complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Osteoclast differentiation pathway
Melanogenesis pathway
Pathways in cancer pathway
Melanoma pathway
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
KitReceptor pathway
RANKL pathway
REACTOME
KEGG
Osteoclast differentiation pathway
Melanogenesis pathway
Pathways in cancer pathway
Melanoma pathway
INOH
PID BIOCARTA
Melanocyte development and pigmentation pathway [Biocarta view]
PID NCI
Regulation of retinoblastoma protein
Regulation of nuclear beta catenin signaling and target gene transcription
Signaling events mediated by Stem cell factor receptor (c-Kit)
Signaling mediated by p38-alpha and p38-beta
IL6-mediated signaling events
Cross-References
SwissProt
TrEMBL D6RCW2
UniProt Splice Variant
Entrez Gene 17342
UniGene Mm.333284 Mm.413799
RefSeq NM_001113198 NM_001178049 NM_008601 XM_006505684 XM_006505685 XM_006505686 XM_006505687 XM_006505688 XM_006505689 XM_006505690 XM_006505691 XM_006505692 XM_006505693 XM_006505694 XM_006505695 XM_006505696
OMIM
CCDS CCDS20385 CCDS51861 CCDS51862
HPRD
IMGT
MGI ID MGI:104554
MGI Symbol Mitf
EMBL AC131676 AC157098 AC158650
GenPept
RNA Seq Atlas 17342