TCF4

Also known as E2-2, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A

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 18q21.2.

Gene data

TCF4

Name: transcription factor 4
Type: protein-coding
Position: 55,222,185–55,664,787 (−)
Aliases: CDG2T, E2-2, FCD2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1
Ensembl: ENSG00000196628
RefSeq RNA: NM_001083962.2, NM_001243226.3, NM_001243227.2, NM_001243228.2, NM_001243230.2
RefSeq protein: NP_001077431.1, NP_001230155.2, NP_001230156.1, NP_001230157.1, NP_001230159.1

This gene encodes transcription factor 4, a basic helix-loop-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 broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016].

Gene Ontology

Biological process

regulation of transcription by RNA polymerase II positive regulation of neuron differentiation positive regulation of neuron differentiation negative regulation of DNA-templated transcription positive regulation of DNA-templated transcription positive regulation of DNA-templated transcription positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II

Molecular function

RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific

Cellular component

chromatin chromatin chromatin nucleus nucleus nucleoplasm transcription regulator complex transcription regulator complex

Pathways

Developmental Biology Developmental Biology Signal Transduction Chromatin organization Chromatin organization Myogenesis Myogenesis Signaling by TGFB family members Signaling by TGFBR3 TGFBR3 expression

via MyGene.info

Gene · Ensembl

transcription factor 4

Symbol: TCF4
Biotype: Protein coding
Organism: Homo sapiens
Location: 18:55,222,185-55,664,787
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 2407
exact match: identifiers.org/ncbigene/6925
genomic end: 53332018
genomic start: 55222185
cytogenetic location: 18q21.2

Sources (7)

via Wikidata · CC0

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Article

5 sections

Contents

Function
Clinical significance
References
Further reading
External links

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 18q21.2.

== Function ==