Mitf Gene Summary [Mouse]
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]
Details
| Type | Protein Coding |
| Official Symbol | Mitf |
| Official Name | melanogenesis associated transcription factor [Source:MGI Symbol;Acc:MGI:104554] |
| Ensembl ID | ENSMUSG00000035158 |
| Bio databases IDs | |
| Aliases | melanogenesis associated transcription factor |
| Synonyms | BCC2, bHLHe32, bw, CMM8, COMMAD, Gsfbcc2, melanocyte inducing transcription factor, melanogenesis associated transcription factor, MI, Microphthalmia-associated transcription factor, vit, Vitiligo, Wh, WS2, WS2A |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mitf often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- leucine zipper domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- phosphorylation site
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- basic helix-loop-helix-leucine zipper domain
- double-stranded DNA binding
- helix loop helix domain
- MITF/TFEB/TFEC/TFE3 N-terminus
- helix-loop-helix domain
- Domain of unknown function (DUF3371)
- Helix-loop-helix DNA-binding domain
- basic domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the Mitf gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- neoplasia
- cancer
- Waardenburg syndrome type 2A
- albinism-deafness syndrome of Tietz
- myocardial infarction
- coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
- organismal death
- Waardenburg syndrome
- melanoma
phenotypes
- abnormal Harderian gland pigmentation
- abnormal Langerhans cell physiology
- abnormal choroid pigmentation
- abnormal ciliary body morphology
- abnormal ciliary process morphology
- abnormal coat/hair pigmentation
- abnormal cochlea morphology
- abnormal cochlear hair cell morphology
- abnormal epiphyseal plate morphology
- abnormal estrous cycle
- abnormal eye development
- abnormal eye morphology
- abnormal eye physiology
- abnormal eye pigmentation
- abnormal eye size
- abnormal eyelid morphology
- abnormal fertility/fecundity
- abnormal foot pigmentation
- abnormal hair follicle melanocyte morphology
- abnormal hair follicle morphology
- abnormal hair shaft melanin granule morphology
- abnormal hearing physiology
- abnormal incisor morphology
- abnormal inner ear morphology
- abnormal iris morphology
- abnormal iris pigmentation
- abnormal iris stromal pigmentation
- abnormal kidney pelvis morphology
- abnormal lens morphology
- abnormal long bone epiphyseal plate morphology
- abnormal long bone metaphysis morphology
- abnormal loop of Henle morphology
- abnormal mast cell physiology
- abnormal melanocyte morphology
- abnormal nursing
- abnormal ocular fundus morphology
- abnormal optic choroid morphology
- abnormal optic cup morphology
- abnormal optic fissure closure
- abnormal optic stalk morphology
- abnormal osteoclast morphology
- abnormal osteoclast physiology
- abnormal photoreceptor inner segment morphology
- abnormal pinna reflex
- abnormal posterior eye segment morphology
- abnormal retina morphology
- abnormal retinal development
- abnormal retinal neuronal layer morphology
- abnormal retinal photoreceptor morphology
- abnormal retinal pigment epithelium morphology
- abnormal retinal pigmentation
- abnormal rod electrophysiology
- abnormal scala media morphology
- abnormal skeleton morphology
- abnormal skin pigmentation
- abnormal spleen germinal center morphology
- abnormal spleen morphology
- abnormal spleen red pulp morphology
- abnormal spleen white pulp morphology
- abnormal stria vascularis morphology
- abnormal vestibular saccule morphology
- abnormal vitreous body morphology
- absent coat pigmentation
- absent eye pigmentation
- absent optic nerve
- absent photoreceptor outer segment
- absent pinna reflex
- absent retinal cone cells
- absent retinal rod cells
- absent skin pigmentation
- absent strial intermediate cells
- anophthalmia
- belly spot
- cataract
- ciliary body hypoplasia
- coloboma
- darkened coat color
- decreased bleeding time
- decreased body size
- decreased ear pigmentation
- decreased eye pigmentation
- decreased length of long bones
- decreased litter size
- decreased mast cell number
- decreased osteoclast cell number
- decreased serotonin level
- decreased survivor rate
- decreased tail pigmentation
- dilated renal tubules
- diluted coat color
- exostosis
- eyelids fail to open
- failure of tooth eruption
- female infertility
- fetal growth retardation
- head spot
- hypopigmentation
- impaired pupillary reflex
- increased circulating creatinine level
- increased glomerular capsule space
- increased or absent threshold for auditory brainstem response
- increased osteoclast cell number
- increased trabecular bone connectivity density
- increased width of hypertrophic chondrocyte zone
- iris hypoplasia
- irregular coat pigmentation
- kidney inflammation
- liver cysts
- male infertility
- microphthalmia
- mydriasis
- no abnormal phenotype detected
- non-pigmented tail tip
- ocular albinism
- osteopetrosis
- osteosclerosis
- pancreas cysts
- phenotypic reversion
- polycystic kidney
- postnatal lethality
- premature death
- reduced fertility
- renal interstitial fibrosis
- renal tubule atrophy
- retinal degeneration
- retinal detachment
- retinal photoreceptor degeneration
- thin stria vascularis
- vacuolated lens
- variable body spotting
- variable depigmentation
- variegated coat color
- white spotting
- yellow coat color
role in cell
- expression in
- cell viability
- apoptosis
- proliferation
- activation in
- survival
- phosphorylation in
- migration
- growth
- transformation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- lysosome membrane
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mitf gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of RNA biosynthetic process
- bone remodeling
- macromolecular complex assembly
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- regulation of cell proliferation
- regulation of transcription from RNA polymerase II promoter
- osteoclast differentiation
- negative regulation of transcription from RNA polymerase II promoter
- melanocyte differentiation
- positive regulation of transcription, DNA-dependent
- regulation of osteoclast differentiation
- positive regulation of gene expression
- negative regulation of apoptotic process
- cell fate commitment
- camera-type eye development
- Wnt receptor signaling pathway
- positive regulation of transcription initiation, DNA-dependent
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- macromolecular complex
- chromatin
- lysosomal membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- chromatin binding
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity