InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TCF4

Summary

InnateDB Protein

IDBP-727587.3

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

ENSP00000454584

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.