Gene Information
Gene Symbol
E2-2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19
Entrez Gene ID
Gene Name
Transcription factor 4
Chromosomal Location
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]
RefSeq DNA
RefSeq mRNA
ENST00000354452, ENST00000643689, ENST00000356073, ENST00000636400, ENST00000637169, ENST00000637923, ENST00000636822, ENST00000638154, ENST00000637115, ENST00000635822, ENST00000636751, ENST00000570287, ENST00000564999, ENST00000629387, ENST00000568673, ENST00000457482, ENST00000543082, ENST00000540999, ENST00000537578, ENST00000568740, ENST00000626631, ENST00000537856, ENST00000544241, ENST00000561992, ENST00000561831, ENST00000564228, ENST00000567880, ENST00000566286, ENST00000566279, ENST00000565018, ENST00000564403, ENST00000398339, ENST00000570177, ENST00000626584, ENST00000630720, ENST00000628689, ENST00000629343, ENST00000570146, ENST00000628636, ENST00000628078, ENST00000562030, ENST00000566514, ENST00000630828, ENST00000562607, ENST00000569012, ENST00000630268, ENST00000630319, ENST00000568169, ENST00000625925, ENST00000566777, ENST00000630712, ENST00000568186, ENST00000562638, ENST00000565908, ENST00000627685, ENST00000626595, ENST00000626425, ENST00000590810, ENST00000563824, ENST00000568147, ENST00000563888, ENST00000564343, ENST00000627784, ENST00000562543, ENST00000562847, ENST00000569357, ENST00000627320, ENST00000630224, ENST00000565124, ENST00000565393, ENST00000660953, ENST00000616053
ENSP00000346440, ENSP00000494380, ENSP00000348374, ENSP00000490006, ENSP00000490832, ENSP00000490329, ENSP00000490883, ENSP00000490625, ENSP00000490234, ENSP00000490451, ENSP00000489783, ENSP00000455763, ENSP00000457649, ENSP00000486670, ENSP00000455135, ENSP00000409447, ENSP00000439656, ENSP00000445202, ENSP00000440731, ENSP00000455346, ENSP00000487505, ENSP00000439827, ENSP00000441562, ENSP00000455179, ENSP00000457765, ENSP00000455261, ENSP00000454366, ENSP00000455418, ENSP00000456125, ENSP00000455984, ENSP00000457263, ENSP00000381382, ENSP00000454647, ENSP00000486072, ENSP00000487218, ENSP00000487010, ENSP00000486148, ENSP00000468729, ENSP00000485755, ENSP00000486909, ENSP00000456220, ENSP00000456983, ENSP00000486974, ENSP00000455071, ENSP00000455304, ENSP00000486405, ENSP00000486215, ENSP00000457392, ENSP00000487413, ENSP00000457245, ENSP00000487419, ENSP00000458122, ENSP00000456802, ENSP00000454584, ENSP00000487171, ENSP00000487415, ENSP00000486111, ENSP00000468277, ENSP00000457113, ENSP00000455163, ENSP00000457747, ENSP00000454328, ENSP00000487150, ENSP00000455450, ENSP00000454866, ENSP00000454352, ENSP00000487557, ENSP00000487134, ENSP00000457082, ENSP00000454441, ENSP00000499672, ENSP00000478549

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006352 Biological process DNA-templated transcription, initiation ISS 8978694
GO:0006367 Biological process Transcription initiation from RNA polymerase II promoter ISS 8978694
GO:0045666 Biological process Positive regulation of neuron differentiation IBA 21873635
GO:0045893 Biological process Positive regulation of transcription, DNA-templated IDA 2105528, 12651860
GO:0045944 Biological process Positive regulation of transcription by RNA polymerase II IBA 21873635
Protein Information
Protein Name
Transcription factor 4, SL3-3 enhancer factor 2, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2
Refseq Proteins



ENSP00000261037 P27658
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Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Atonic seizures
Genetic Diseases

Differential gene expression profile in omental adipose tissue in women with polycystic ovary syndrome.

Corton Marta, Botella-Carretero Jose I, Benguria Alberto, Villuendas Gemma, Zaballos Angel, San Millan Jose L, Escobar-Morreale Hector F, Peral Belen
Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Cientificas and Universidad Autonoma de Madrid, E-28029 Madrid, Spain.
J Clin Endocrinol Metab. 2007 Jan;92(1):328-37. doi: 10.1210/jc.2006-1665. Epub

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