TCF4

For the Transcription factor 7-like 2 gene, also known as TCF4, see TCF7L2.

Transcription factor 4
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2KWF
Identifiers
Symbols	TCF4 ; E2-2; ITF-2; ITF2; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; TCF-4; bHLHb19
External IDs	OMIM: 602272 MGI: 98506 HomoloGene: 2407 GeneCards: TCF4 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • transcription factor activity, TFIIB-class binding • TFIIB-class transcription factor binding • DNA binding • transcription factor activity, sequence-specific DNA binding • protein binding • protein C-terminus binding • protein homodimerization activity • bHLH transcription factor binding • protein heterodimerization activity • E-box binding Cellular component • nucleus • transcription factor complex Biological process • DNA-templated transcription, initiation • transcription initiation from RNA polymerase II promoter • positive regulation of neuron differentiation • positive regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • protein-DNA complex assembly Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6925	21413
Ensembl	ENSG00000196628	ENSMUSG00000053477
UniProt	P15884	Q60722
RefSeq (mRNA)	NM_001083962	NM_001083967
RefSeq (protein)	NP_001077431	NP_001077436
Location (UCSC)	Chr 18: 55.22 – 55.66 Mb	Chr 18: 69.34 – 69.69 Mb
PubMed search	[1]	[2]

Transcription factor 4 (TCF-4) also known as immunoglobulin transcription factor 2 (ITF-2) is a protein that in humans is encoded by the TCF4 gene located on chromosome 18q21.1.

Function

TCF4 proteins act as transcription factors which will bind to the immunoglobulin enhancer mu-E5/kappa-E2 motif. TCF4 activates transcription by binding to the E-box (5’-CANNTG-3’) found usually on SSTR2-INR, or somatostatin receptor 2 initiator element. TCF4 is primarily involved in neurological development of the fetus during pregnancy by initiating neural differentiation by binding to DNA. It is found in the central nervous system, somites, and gonadal ridge during early development. Later in development it will be found in the thyroid, thymus, and kidneys while in adulthood TCF4 it is found in lymphocytes, muscles, and gastrointestinal system.

Clinical significance

Mutations in TCF4 cause Pitt-Hopkins Syndrome (PHS). These mutations cause TCF4 proteins to not bind to DNA properly and control the differentiation of the nervous system. In most cases that have been studied, the mutations were de novo, meaning it was a new mutation not found in other family members of the patient. Common symptoms of Pitt-Hopkins Syndrome include a wide mouth, gastrointestinal problems, developmental delay of fine motor skills, speech and breathing problems, epilepsy, and other brain defects.

External links

• TCF4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• FactorBook TCF4

This article incorporates text from the United States National Library of Medicine, which is in the public domain.