|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:HEP
gptkb:AWM
WS2
BHLHE32
CMM8
WS2A
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
melanoma
Tietz syndrome
Waardenburg syndrome type 2
|
|
gptkbp:chromosomeArm
|
3p14.1-p12.3
|
|
gptkbp:discoveredBy
|
David E. Fisher
|
|
gptkbp:encodes
|
MITF protein
|
|
gptkbp:Entrez_Gene_ID
|
4286
ENSG00000187098
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
gptkb:retinal_pigment_epithelium
gptkb:mast_cells
gptkb:osteoclasts
|
|
gptkbp:fullName
|
Microphthalmia-associated transcription factor
|
|
gptkbp:function
|
transcription factor
regulation of mast cell development
regulation of melanocyte development
regulation of osteoclast development
regulation of pigment cell differentiation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:7105
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MITF
|
|
gptkbp:length
|
9 exons
|
|
gptkbp:locatedOnChromosome
|
3
|
|
gptkbp:mutationAssociatedWith
|
deafness
ocular abnormalities
pigmentation defects
|
|
gptkbp:OMIM
|
156845
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Mitf
|
|
gptkbp:proteinFamily
|
basic helix-loop-helix leucine zipper (bHLH-Zip)
|
|
gptkbp:regulates
|
gptkb:HIF1A
gptkb:CDK2
gptkb:BCL2
gptkb:PAX3
gptkb:E-box
gptkb:TYR
gptkb:PMEL
gptkb:DCT
GPNMB
MITF (autoregulation)
MLANA
SNAI2
TYRP1
|
|
gptkbp:UniProtID
|
O75030
|
|
gptkbp:bfsParent
|
gptkb:chromosome_3
|
|
gptkbp:bfsLayer
|
6
|