InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TCF4

Summary

InnateDB Protein

IDBP-727875.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TCF4

Protein Name

Synonyms

bHLHb19; E2-2; ITF-2; ITF2; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; TCF-4;

Species

Homo sapiens

Ensembl Protein

ENSP00000456125

InnateDB Gene

IDBG-3611 (TCF4)

Protein Structure

UniProt Annotation

Function

Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'. {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00981, ECO:0000269PubMed:22777675}.

Disease Associations

Pitt-Hopkins syndrome (PTHS) [MIM:610954]: A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. {ECO:0000269PubMed:17436254, ECO:0000269PubMed:17436255, ECO:0000269PubMed:18728071, ECO:0000269PubMed:19235238, ECO:0000269PubMed:20184619, ECO:0000269PubMed:22045651}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 90 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.

Experimentally validated
Total	90 [view]
Protein-Protein	79 [view]
Protein-DNA	11 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	44 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001011	sequence-specific DNA binding RNA polymerase recruiting transcription factor activity
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001087	TFIIB-class binding transcription factor activity
GO:0001093	TFIIB-class transcription factor binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity
GO:0070888	E-box binding

Biological Process

GO:0006352	DNA-templated transcription, initiation
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0045087	innate immune response (InnateDB)
GO:0045666	positive regulation of neuron differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0065004	protein-DNA complex assembly