AlphaFold predicted structure
MITF · O75030
Mean pLDDT
60.8/ 100
Low
526 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)14%
- Low(50–70)24%
- Very low(< 50)43%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
MITF
Chr 3p13melanocyte inducing transcription factor
- Aliases:
- MI, bHLHe32
- MANE:
- ENST00000352241.9
Annotations refreshed 11 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMonogenic hearing loss
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalPigmentary skin disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomalFamilial melanoma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInherited renal cancer
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAlbinism or congenital nystagmus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
Waardenburg syndrome type 2A
0.81Tietz syndrome
0.77coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
0.73melanoma, cutaneous malignant, susceptibility to, 8
0.72Waardenburg syndrome
0.66cutaneous melanoma
0.66Waardenburg syndrome type 2
0.63hair color
0.57MITF-related melanoma and renal cell carcinoma predisposition syndrome
0.52Tietze syndrome
0.51
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Microphthalmia-associated transcription factor
Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation (PubMed:36608670). Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity (PubMed:36608670). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758)
Diseases associated with MITF
Curated MONDO disease pages that list MITF among their top associated genes.