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
ReMap Statistics
- Datasets
- 7
- Biotypes
- 4
- Peaks
- 131,642
- Non-redundant peaks
- 92,210
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
- JASPAR
- MA0620
- Ensembl
- ENSG00000187098
- UniProt
- O75030
- Genevisible
- O75030
- RefSeq
- NM_000248
- Aliases
- CMM8; COMMAD; MI; WS2; WS2A; bHLHe32
Datasets Table for MITF
| Target name | Target modification | Ecotype/Strain | Biotype | Biotype modification | Source | Species | Experiment | Peaks |
|---|---|---|---|---|---|---|---|---|
| MITF | K-562 | ENCODE | Homo sapiens | ENCSR000FCB | 8,533 | |||
| MITF | K-562 | ENCODE | Homo sapiens | ENCSR797SWM | 35,291 | |||
| MITF | 501MEL | GEO | Homo sapiens | GSE61965 | 28,598 | |||
| MITF | 501MEL | GEO | Homo sapiens | GSE64137 | 36 | |||
| MITF | melanocyte | BRAFV600E | GEO | Homo sapiens | GSE50681 | 24,500 | ||
| MITF | melanocyte | CTR | GEO | Homo sapiens | GSE50681 | 31,912 | ||
| MITF | retina | pigment | GEO | Homo sapiens | GSE60024 | 2,772 | ||
| Target name | Target modification | Ecotype/Strain | Biotype | Biotype modification | Source | Species | Experiment | Peaks |