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TCF4 transcription factor 4 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_001083962 Homo sapiens transcription factor 4 (TCF4), transcript variant 1, mRNA. Full Length Quote
ORF Sequence $584.64
NM_003199 Homo sapiens transcription factor 4 (TCF4), transcript variant 2, mRNA. Full Length Quote
ORF Sequence $581.16


Gene Symbol TCF4
Entrez Gene ID 6925
Full Name transcription factor 4
Synonyms E2-2, ITF2, MGC149723, MGC149724, PTHS, SEF2, SEF2-1, SEF2-1A, SEF2-1B, bHLHb19
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

18

18q21.1
Summary This gene encodes transcription factor 4, a basic helix-turn-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is expressed predominantly in pre-B-cells, although it is found in other tissues as well. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq].
Disorder

MIM: 602272

Pitt-Hopkins syndrome, 610954 (3)
mRNA NM_001083962, 145312266
Protein NP_001077431, 145312267
Product transcription factor 4 isoform a
RefSeq Status REVIEWED
mRNA NM_003199, 145386535
Protein NP_003190, 4507399
Product transcription factor 4 isoform b
RefSeq Status REVIEWED
WikiPathways
WP363Wnt Signaling Pathway NetPath
Pathway Interaction Database
wnt_beta_catenin_pathwayRegulation of Wnt-mediated beta catenin signaling and target gene transcription
ar_pathwayCoregulation of Androgen receptor activity
Reactome
REACT_21303Myogenesis
REACT_21402CDO in myogenesis
Homo sapiens (human)TCF4NP_001077431.1
Canis lupus familiaris (dog)TCF4NP_001003268.1
Mus musculus (house mouse)Tcf4NP_038713.1
Rattus norvegicus (Norway rat)Tcf4NP_445821.1
Process
IDNameEvidence
GO:0006351transcription, DNA-dependentIDA
GO:0006367transcription initiation from RNA polymerase II promoterISS
GO:0045893positive regulation of transcription, DNA-dependentIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterISS
GO:0065004protein-DNA complex assemblyISS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005667transcription factor complexISS
Function
IDNameEvidence
GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA bindingISS
GO:0001011sequence-specific DNA binding RNA polymerase recruiting transcription factor activityISS
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionISS
GO:0001087TFIIB-class binding transcription factor activityISS
GO:0001093TFIIB-class transcription factor bindingISS
GO:0003677DNA bindingIDA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0005515protein bindingIPI
GO:0008022protein C-terminus bindingIPI
GO:0046982protein heterodimerization activityNAS
GO:0070888E-box bindingISS
GeneCards TCF4
UniProt P15884, B3KVA4
MIM 602272
Ensembl ENSG00000196628
HGNC 11634
HPRD 03780

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