|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:E2-2
ITF2
SEF-2
|
|
gptkbp:associatedWith
|
gptkb:intellectual_disability
schizophrenia
Pitt-Hopkins syndrome
|
|
gptkbp:biologicalProcess
|
transcriptional activation
DNA binding
|
|
gptkbp:discoveredBy
|
1991
|
|
gptkbp:encodes
|
Transcription factor 4 protein
|
|
gptkbp:Entrez_Gene_ID
|
6925
ENSG00000196628
|
|
gptkbp:expressedIn
|
gptkb:nervous_system
brain
|
|
gptkbp:fullName
|
Transcription Factor 4
|
|
gptkbp:function
|
gptkb:transcription_factor
regulation of gene expression
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
gptkb:GO:0006355_(regulation_of_transcription,_DNA-templated)
GO:0003700 (DNA-binding transcription factor activity)
|
|
gptkbp:HGNC_ID
|
11641
|
|
gptkbp:interactsWith
|
other bHLH proteins
|
|
gptkbp:length
|
671
|
|
gptkbp:locatedOnChromosome
|
gptkb:18q21.2
18
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
neurodevelopmental disorders
frameshift
|
|
gptkbp:OMIM
|
602272
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse
gptkb:right
gptkb:zebrafish
|
|
gptkbp:pathway
|
gptkb:Wnt_signaling_pathway
neurogenesis
|
|
gptkbp:proteinFamily
|
basic helix-loop-helix (bHLH) transcription factors
|
|
gptkbp:regulates
|
cell proliferation
cell fate determination
neuronal differentiation
|
|
gptkbp:significance
|
de novo mutations
autosomal dominant inheritance
|
|
gptkbp:transcription_regulation
|
DNA binding
dimerization with other proteins
|
|
gptkbp:UniProtID
|
P15884
|
|
gptkbp:bfsParent
|
gptkb:chromosome_18
gptkb:E-protein_family
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TCF4
|