Associated Diseases
Associated Pathways


Location [1]
G-protein signaling
Protein [2]
Microphthalmia-associated transcription factor
Synonyms [1]

Micropthalmia-associated transcription factor (MITF) is a gene that encodes a transcription factor protein that functions in the differentiation and development of melanocytes retinal pigment epithelium. The protein also regulates the pigment cell-specific transcription of melanogenesis enzyme genes. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as hematopoietic and lymphoid cancers, intestinal cancer, and lung cancer.

MITF is altered in 1.10% of all cancers with colon adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and melanoma having the greatest prevalence of alterations [3].

MITF GENIE Cases - Top Diseases

The most common alterations in MITF are MITF Amplification (0.15%), MITF Loss (0.10%), MITF R60C (0.02%), MITF A384T (0.02%), and MITF R330H (0.02%) [3].

MITF GENIE Cases - Top Alterations


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.