InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TCF12

Summary

InnateDB Protein

IDBP-592255.3

Last Modified

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

Gene Symbol

TCF12

Protein Name

transcription factor 12

Synonyms

bHLHb20; CRS3; HEB; HsT17266; HTF4;

Species

Homo sapiens

Ensembl Protein

ENSP00000453737

InnateDB Gene

IDBG-13567 (TCF12)

Protein Structure

UniProt Annotation

Function

Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').

Subcellular Localization

Nucleus.

Disease Associations

Craniosynostosis 3 (CRS3) [MIM:615314]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269PubMed:23354436}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	41 [view]
Protein-Protein	37 [view]
Protein-DNA	3 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0035326	enhancer binding
GO:0043425	bHLH transcription factor binding
GO:0044212	transcription regulatory region DNA binding
GO:0046332	SMAD binding
GO:0046983	protein dimerization activity

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006955	immune response
GO:0007517	muscle organ development