MITF

Information MITF

Description

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]

Full Name

melanocyte inducing transcription factor

Source NCBI

Species

Homo sapiens [tax_id: 9606]

Genome

hg38

ReMap Statistics

Datasets
10
Biotypes
4
Peaks
278,219
Non-redundant peaks
123,917

TF Classification

Super Class
Basic domains
Class
Basic helix-loop-helix factors (bHLH)
Familly
bHLH-ZIP factors
Sub Familly
TFE3-like factors

Source TFClass

External IDs

NCBI Gene
4286
Official Gene Name
MITF
JASPAR
MA0620
Ensembl
ENSG00000187098
UniProt
O75030
Genevisible
O75030
RefSeq
NM_000248
Aliases
CMM8; COMMAD; MI; WS2; WS2A; bHLHe32
All peaks MITF
Download BED file
Non redundant peaks MITF
Download BED file
SEQUENCES MITF
Download FASTA file
DOWNLOAD All ReMap
Got to catalogue

Datasets Table for MITF

Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks
MITF 501-mel GEO Homo sapiens GSE61965 28,595
MITF 501-mel K243Q GEO Homo sapiens GSE137522 48,165
MITF 501-mel K243R GEO Homo sapiens GSE137522 7,133
MITF 501-mel GEO Homo sapiens GSE137522 47,658
MITF 501-mel 20ng_K243R GEO Homo sapiens GSE137522 43,665
MITF melanocyte CTR GEO Homo sapiens GSE50681 31,912
MITF melanocyte BRAFV600E GEO Homo sapiens GSE50681 24,500
MITF K-562 ENCODE Homo sapiens ENCSR000FCB 8,532
MITF K-562 ENCODE Homo sapiens ENCSR797SWM 35,287
MITF retina pigment GEO Homo sapiens GSE60024 2,772
Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks