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MITF

Summary: The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017].

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Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
Namemelanogenesis associated transcription factor OMIM IDMIM:156845 Ensembl IDEnsembl:ENSG00000187098 HGNC IDHGNC:HGNC:7105 PHARMGKB IDPA30823 Map Location3p13

Gene Categories:

DRUGGABLE GENOME CLINICALLY ACTIONABLE

GO terms in MITF

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Term Type	Evidence Type	GO Term ID	GO Des.
BP	IMP	GO:0000122	negative regulation of transcription by RNA polymerase II
BP	IMP	GO:0006355	regulation of transcription, DNA-templated
BP	NAS	GO:0006355	regulation of transcription, DNA-templated
BP	IEA	GO:0006366	transcription by RNA polymerase II
BP	IDA	GO:0010628	positive regulation of gene expression
BP	IMP	GO:0010628	positive regulation of gene expression

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Gene expression in normal tissue: MITF

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in MITF

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Database	Pathway ID	Pathway Des.
reactome	R-HSA-2990846	SUMOylation
reactome	R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins
reactome	R-HSA-3232118	SUMOylation of transcription factors
reactome	R-HSA-392499	Metabolism of proteins
reactome	R-HSA-597592	Post-translational protein modification
biocarta	melanocytepathway	melanocyte development and pigmentation pathway

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Gene-Drug: Aster Plot

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Drug ID	Drug Name	Model Num.
iGMDRD121	GMX1778	3
iGMDRD210	AC55649	3
iGMDRD420	Leucascandrolide A	3
iGMDRD79	Gemcitabine	3

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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in MITF

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	Model	Level	Reference ID	Tissue	Cancer	Drug	Clinical Response	Source
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Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.