TCF4

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:E2-2
ITF2
SEF-2
gptkbp:associatedWith schizophrenia
intellectual disability
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 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
https://www.w3.org/2000/01/rdf-schema#label TCF4
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:zebrafish
right
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:TCF7L2
gptkbp:bfsLayer 6