Property Summary

NCBI Gene PubMed Count 226
Grant Count 306
R01 Count 150
Funding $44,102,815.35
PubMed Score 1162.13
PubTator Score 449.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
Rheumatoid Arthritis 1.100 0.016
malignant mesothelioma -1.500 0.000
osteosarcoma 1.212 0.003
group 4 medulloblastoma -1.700 0.000
medulloblastoma, large-cell -1.900 0.000
non-small cell lung cancer -1.524 0.000
intraductal papillary-mucinous neoplasm ... 1.100 0.016
lung cancer -2.100 0.000
active Crohn's disease 1.608 0.024
fibroadenoma -1.900 0.001
cystic fibrosis -1.200 0.000
lung carcinoma -1.900 0.000
ductal carcinoma in situ -1.200 0.005
invasive ductal carcinoma -1.800 0.000
ulcerative colitis 1.200 0.000
ovarian cancer -2.400 0.000

Synonym

Accession O75030 B4DJL2 D3K197 E9PFN0 Q14841 Q9P2V0 Q9P2V1 Q9P2V2 Q9P2Y8
Symbols MI
WS2
CMM8
WS2A
bHLHe32

Gene

PDB

4C7N  

MLP Assay (20)

AID Type Active / Inconclusive / Inactive Description
488899 screening 2767 / 163 / 328648 MITF Measured in Cell-Based System Using Plate Reader - 2084-01_Inhibitor_SinglePoint_HTS_Activity
488944 summary 1 / 0 / 0 Summary of Broad Institute MLPCN Identification of MITF Inhibitors Project
493073 confirmatory 809 / 0 / 432 MITF Measured in Cell-Based System Using Plate Reader - 2084-01_Inhibitor_DoseNoFile_CherryPick_Activity_Set3
493102 confirmatory 809 / 0 / 432 MITF Measured in Cell-Based System Using Plate Reader - 2084-01_Inhibitor_DoseNoFile_CherryPick_Activity_Set4
493177 confirmatory 809 / 0 / 432 MITF Measured in Cell-Based System Using Plate Reader - 2084-01_Inhibitor_DoseNoFile_CherryPick_Activity_Set2
493191 confirmatory 333 / 0 / 947 MITF Orthogonal Assay: MALME3 CTG Assay Measured in Cell-Based System Using Plate Reader - 2084-04_Inhibitor_Dose_CherryPick_Activity
493240 confirmatory 274 / 1 / 1005 MITF Orthogonal Assay: SK-MEL-5 CTG Assay Measured in Cell-Based System Using Plate Reader - 2084-02_Inhibitor_Dose_CherryPick_Activity_Set3
540339 confirmatory 28 / 0 / 1 MITF Orthogonal Assay: MALME3 CTG Assay Measured in Cell-Based System Using Plate Reader - 2084-04_Inhibitor_Dose_DryPowder_Activity
540346 confirmatory 266 / 0 / 1014 MITF: Counter assay: A375 proliferation Measured in Cell-Based System Using Plate Reader - 2084-03_Inhibitor_Dose_DryPowder_Activity
624259 confirmatory 64 / 0 / 6 MITF Measured in Cell-Based System Using Plate Reader - 2084-01_Inhibitor_Dose_DryPowder_Activity_Set3
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Gene RIF (184)

PMID Text
26962685 A concomitant AURKA/BRAF and AURKA/MEK targeting overcame MAPK signaling activation-associated resistance signature in BRAF- and NRAS-mutated melanomas, respectively, and elicited heightened anti-proliferative activity and apoptotic cell death.
26927636 SOX5 has a strong inhibitory effect on MITF expression and seems to have a decisive clinical impact on melanoma during tumor progression.
26773496 Here we show that MITF-A mRNA is predominantly expressed in all three human liver cancer cell lines examined.
26663054 Data suggest that the heterozygous deletion mutation c.649_651delAGA in exon 7 of the microphthalmia-associated transcription factor (MITF) gene probably underlies the disease in the first family.
26663053 Data show that mutant microphthalmia-associated transcription factor (MITF) with loss of localization signals (NLS) has failed to transactivate the transcriptional activities of target gene tyrosinase (TYR), which can cause Waardenburg syndrome.
26650189 In addition to melanoma risk, MITF p.E318K is associated with a high nevi count and could play a role in fast-growing melanomas.
26580798 LEF-1 and MITF regulate tyrosinase gene transcription in vitro via binding to its promoter.
26530832 A reciprocal antagonism between the MITF and c-Jun interconnects inflammation-induced dedifferentiation with pro-inflammatory cytokine responsiveness of melanoma cells favouring myeloid cell recruitment.
26522736 Results show that Mitf, probably including Mitf-M, is expressed in the mitral cells and tufted cells that transmit the information derived from olfactory sensory neurons to the olfactory cortex.
26512583 mutation associated with single-side deafness
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AA Sequence

MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQE      1 - 70
QERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVK     71 - 140
QYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECP    141 - 210
GMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNS    211 - 280
CPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNK    281 - 350
GTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNR    351 - 420
IIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTL    421 - 490
SPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC                                      491 - 526
//

Text Mined References (234)

PMID Year Title
26962685 2016 Overcoming MITF-conferred drug resistance through dual AURKA/MAPK targeting in human melanoma cells.
26927636 2016 SOX5 is involved in balanced MITF regulation in human melanoma cells.
26773496 2016 Induction of MITF expression in human cholangiocarcinoma cells and hepatocellular carcinoma cells by cyclopamine, an inhibitor of the Hedgehog signaling.
26663054 2015 [Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].
26663053 2015 [Analysis of nuclear localization and signal function of MITF protein predisposing to Warrdenburg syndrome].
26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
26580798 2015 LEF-1 Regulates Tyrosinase Gene Transcription In Vitro.
26530832 2015 MITF and c-Jun antagonism interconnects melanoma dedifferentiation with pro-inflammatory cytokine responsiveness and myeloid cell recruitment.
26522736 2015 Microphthalmia-associated transcription factor is expressed in projection neurons of the mouse olfactory bulb.
26512583 2015 Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.
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