1. Gene
  2. Mitf - melanogenesis associated transcription factor Gene

Mitf - melanogenesis associated transcription factor Gene

Mus musculus

Also known as Wh; bw; mi; vit; BCC2; Bhlhe32; Gsfbcc2; Vitiligo

Gene ID: 17342 | Gene type: protein coding

About Mitf

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]

Mitf Products(12)

mRNA Protein Name
NM_001113198.2 NP_001106669.1 microphthalmia-associated transcription factor isoform 1
NM_001178049.2 NP_001171520.1 microphthalmia-associated transcription factor isoform 3
NM_001410051.1 NP_001396980.1 microphthalmia-associated transcription factor isoform 4
NM_001410052.1 NP_001396981.1 microphthalmia-associated transcription factor isoform 5
NM_001410053.1 NP_001396982.1 microphthalmia-associated transcription factor isoform 6
NM_001410054.1 NP_001396983.1 microphthalmia-associated transcription factor isoform 7
NM_001410055.1 NP_001396984.1 microphthalmia-associated transcription factor isoform 8
NM_001410056.1 NP_001396985.1 microphthalmia-associated transcription factor isoform 9
NM_001410057.1 NP_001396986.1 microphthalmia-associated transcription factor isoform 10
NM_001410058.1 NP_001396987.1 microphthalmia-associated transcription factor isoform 11
NM_001410059.1 NP_001396988.1 microphthalmia-associated transcription factor isoform 12 precursor
NM_008601.4 NP_032627.1 microphthalmia-associated transcription factor isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA binding IDA
IDA: Inferred from direct assay
14575687 MGI
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
15716956 MGI
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
12235125 MGI
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
15729346 MGI
enables DNA-binding transcription factor activity, RNA polymerase II-specific IMP
IMP: Inferred from mutant phenotype
23207919 MGI
enables E-box binding IDA
IDA: Inferred from direct assay
23207919 MGI
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
15716956 MGI
enables chromatin binding IDA
IDA: Inferred from direct assay
15729346 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
17442941 MGI
enables protein dimerization activity IPI
IPI: Inferred from physical interaction
23207919 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within Wnt signaling pathway IDA
IDA: Inferred from direct assay
12235125 MGI
acts upstream of or within bone remodeling IMP
IMP: Inferred from mutant phenotype
12086670 MGI
acts upstream of or within camera-type eye development IGI
IGI: Inferred from genetic interaction
15576400 MGI
acts upstream of or within cell differentiation IMP
IMP: Inferred from mutant phenotype
9199364 MGI
acts upstream of or within cell fate commitment IMP
IMP: Inferred from mutant phenotype
15576400 MGI
acts upstream of melanocyte apoptotic process IMP
IMP: Inferred from mutant phenotype
12086670 MGI
acts upstream of or within melanocyte differentiation IGI
IGI: Inferred from genetic interaction
12086670 MGI
acts upstream of or within melanocyte differentiation IMP
IMP: Inferred from mutant phenotype
2379821 MGI
acts upstream of or within negative regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
12086670 MGI
acts upstream of or within osteoclast differentiation IMP
IMP: Inferred from mutant phenotype
12086670 MGI
acts upstream of or within pigmentation IGI
IGI: Inferred from genetic interaction
12086670 MGI
acts upstream of or within pigmentation IMP
IMP: Inferred from mutant phenotype
2379821 MGI
acts upstream of or within positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
14575687 MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
17442941 MGI
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
15304486 MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II IGI
IGI: Inferred from genetic interaction
15729346 MGI
involved in positive regulation of transcription by RNA polymerase II IGI
IGI: Inferred from genetic interaction
24769727 MGI
acts upstream of or within regulation of cell population proliferation IDA
IDA: Inferred from direct assay
12235125 MGI
acts upstream of or within regulation of gene expression IMP
IMP: Inferred from mutant phenotype
12086670 MGI
acts upstream of or within regulation of osteoclast differentiation IGI
IGI: Inferred from genetic interaction
11930005 MGI
acts upstream of or within regulation of osteoclast differentiation IMP
IMP: Inferred from mutant phenotype
11930005 MGI
acts upstream of or within regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12235125 MGI
involved in regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
23207919 MGI
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
12235125 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

microphthalmia-associated transcription factor

black eyed white

microphtalmia-associated transcription factor

Orthologs Information

Species Symbol Source ID
Homo sapiens Mitf NCBI NCBI:4286