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MITF (Microphthalmia-associated transcription factor)
FEATURES
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FAMILY
DESCRIPTION
Also known as MITF_HUMAN, MITF, BHLHE32. Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). 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. Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:24631970). Efficient DNA binding requires dimerization with another bHLH protein (PubMed:14975237). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (PubMed:15507434). Interacts with KARS1 (PubMed:14975237). Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378). Interacts with VSX2 (By similarity).
Also known as MITF_HUMAN, MITF, BHLHE32. Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an imp ...
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MITF

Microphthalmia-associated transcription factor

Mutations

FILTERS

Mutation(s) distribution

Mutations table

Study NameMutation TypeSeveritySeq. Cons. ScorePrediction scorePositionAmino acid changeTCGA Patient ID
Uterine endometrial (UCEC) Start lost HIGH 100% 13.2% 1 Met1? TCGA-AP-A1DK
Liver (LIHC) Stop gained HIGH 100% 0% 4 Glu4* TCGA-DD-AADS
Uterine endometrial (UCEC) Missense variant MODERATE 100% 6.8% 18 His18Arg TCGA-EO-A22R
Cervical (CESC) Missense variant MODERATE 100% 4.3% 29 Ser29Gly TCGA-2W-A8YY
Colon (COAD) Missense variant MODERATE 90.3% 9.7% 38 Ala38Thr TCGA-CM-6172
Stomach (STAD) Missense variant MODERATE 100% 56.5% 49 Ser49Arg TCGA-BR-6452
Breast (BRCA) Missense variant MODERATE 100% 68.1% 51 Ser51Phe TCGA-AC-A23H
Uterine endometrial (UCEC) Missense variant MODERATE 100% 45% 53 Met53Leu TCGA-DI-A1BU
Uterine endometrial (UCEC) Missense variant MODERATE 100% 80.7% 56 Arg56Cys TCGA-EY-A549
Pancreatic (PAAD) Missense variant MODERATE 100% 80.7% 56 Arg56His TCGA-IB-7651