# MITF

Source: https://onco.cc/targets/mitf/  
OnCo record `mitf` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

MITF (Microphthalmia-associated transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Ovarian cancer and 2 more.

## Summary

Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis. 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). 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.

CIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Vemurafenib, Dabrafenib, PLX4720 and Selumetinib. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.24, affected pathway 0.61, literature 0.98, genetic association 0.84, somatic mutation 0.98, animal model 0.65).

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: melanocyte inducing transcription factor; Microphthalmia-associated transcription factor; bHLHe32; WS2A; WS2
- Tags: cancer-genes-wave
- Symbol: MITF
- Class: transcription
- Biology: Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis. 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). 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. Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity. Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). 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. Location: Nucleus; Cytoplasm; Lysosome membrane (UniProt). Locus 3p13 (HGNC).
- Where found: Skin cancer: Open Targets association 0.73 with skin cancer (MONDO_0002898); Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254); Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170); Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315); Melanoma: Open Targets association 0.75 with melanoma (MONDO_0005105); CIViC evidence names this disease

## Notes

- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.

## Sources

- HGNC HGNC:7105: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7105
- UniProt O75030: https://www.uniprot.org/uniprotkb/O75030/entry
- NCBI Gene 4286: https://www.ncbi.nlm.nih.gov/gene/4286
- Ensembl ENSG00000187098: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187098

## Connected records

- collections: [CIViC](https://onco.cc/collections/civic/), [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Breast cancer (all types)](https://onco.cc/cancers/breast-cancer/), [Melanoma](https://onco.cc/cancers/melanoma/), [Ovarian cancer](https://onco.cc/cancers/ovarian/), [Prostate cancer](https://onco.cc/cancers/prostate/), [Skin cancer (all types)](https://onco.cc/cancers/skin-cancer/)
- pathways: [Melanoma (KEGG map)](https://onco.cc/pathways/melanoma-signalling/)

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JSON: https://onco.cc/api/v1/entities/mitf.json