AutismKB 2.0

Annotation Details for MITF


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MITF ( MI,WS2A,bHLHe32 )
Gene Full Name: microphthalmia-associated transcription factor
Band: 3p13
Quick LinksEntrez ID:4286; OMIM: 156845; Uniprot ID:MITF_HUMAN; ENSEMBL ID: ENSG00000187098; HGNC ID: 7105
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus27889061
GO:0005634NAS-nucleus9647758
GO:0005654TAS-nucleoplasm-
GO:0043234IDA-protein complex20530484
GO ID Evidence Qualifier GO_term References
GO:0000978IDA-RNA polymerase II core promoter proximal region sequence-specific DNA binding14737107
GO:0001077IDA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding14737107
GO:0001077IMP-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding14737107
GO:0001227NAS-transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding24769727
GO:0005515IPI-protein binding20530484
GO:0046983IEA-protein dimerization activity-
GO:0070888IDA-E-box binding27889061
GO ID Evidence Qualifier GO_term References
GO:0000122IMP-negative regulation of transcription from RNA polymerase II promoter24769727
GO:0006355IMP-regulation of transcription, DNA-templated27889061
GO:0006355NAS-regulation of transcription, DNA-templated9647758
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0006461IDA-protein complex assembly20530484
GO:0007275IEA-multicellular organism development-
GO:0010628IDA-positive regulation of gene expression22234890
GO:0010628IMP-positive regulation of gene expression22234890
GO:0016925TAS-protein sumoylation-
GO:0030318IBA-melanocyte differentiation-
GO:0030318NAS-melanocyte differentiation9647758
GO:0045893IDA-positive regulation of transcription, DNA-templated9647758
GO:0045893NAS-positive regulation of transcription, DNA-templated10578055
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter20530484
GO:0045944IMP-positive regulation of transcription from RNA polymerase II promoter14737107
GO:2000144IDA-positive regulation of DNA-templated transcription, initiation8995290
GO:2001141IDA-regulation of RNA biosynthetic process16411896
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MITFFOS1086369918847 Affinity Capture-Western
MITFFOS1104329918847 Affinity Capture-Western
SPI1MITF1104329918847 Reconstituted Complex
SPI1MITF1125669918847 Reconstituted Complex
UBE2IMITF11317710694430 16029420 Reconstituted Complex; Two-hybrid
UBE2IMITF11043210694430 16029420 Reconstituted Complex; Two-hybrid
PAX6MITF11111411350962 Reconstituted Complex
PAX6MITF11043211350962 Reconstituted Complex
PIAS3MITF11567311709556 16029420 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PIAS3MITF11043211709556 16029420 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PATZ1MITF11713311751862 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PATZ1MITF11043211751862 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
TFECMITF11647811818452 Affinity Capture-Western
TFECMITF11043211818452 Affinity Capture-Western
TFE3MITF11288811818452 11930005 Affinity Capture-Western; Phenotypic Enhancement
TFE3MITF11043211818452 11930005 Affinity Capture-Western; Phenotypic Enhancement
LEF1MITF11935412032083 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
LEF1MITF11043212032083 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SUMO1MITF11318816029420 Affinity Capture-Western
SUMO1MITF11043216029420 Affinity Capture-Western
PIAS1MITF11412416029420 Reconstituted Complex
PIAS1MITF11043216029420 Reconstituted Complex
PIAS2MITF11452316029420 Reconstituted Complex
PIAS2MITF11043216029420 Reconstituted Complex
Gene Symbol Interactant Interaction ID References Description
RB1MITF21494915716956 An unspecified isoform of Mitf interacts with Rb.
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
MITFrs13073599, rs1427421, rs1430601, rs2320172, rs704246, rs7623610 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:104554
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-010919-1'