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Gene Symbol |
TCF4 |
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Aliases |
E2-2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19 |
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Entrez Gene ID |
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Gene Name |
Transcription factor 4 |
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Chromosomal Location |
18q21.2 |
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HGNC ID |
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Summary |
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]
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RefSeq DNA |
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RefSeq mRNA |
NM_001083962.2, NM_003199.3, NM_001243226.3, NM_001243227.2, NM_001243228.2, NM_001243230.1, NM_001243231.2, NM_001243232.1, NM_001243233.2, NM_001243234.2, NM_001243235.2, NM_001243236.2, NM_001306207.1, NM_001306208.1, NM_001330604.3, NM_001330605.3, NM_001348211.2, NM_001348212.2, NM_001348213.2, NM_001348214.2, NM_001348215.2, NM_001348216.2, NM_001348217.1, NM_001348218.2, NM_001348219.2, NM_001348220.1, NM_001369567.1, NM_001369568.1, NM_001369569.1, NM_001369570.1, NM_001369571.1, NM_001369572.1, NM_001369573.1, NM_001369574.1, NM_001369575.1, NM_001369576.1, NM_001369577.1, NM_001369578.1, NM_001369579.1, NM_001369580.1, NM_001369581.1, NM_001369582.1, NM_001369583.1, NM_001369584.1, NM_001369585.1, NM_001369586.1 |
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e!Ensembl
| Gene |
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| Transcript |
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 |
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| Protein |
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
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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 |
| GO:0045944 |
Biological process |
Positive regulation of transcription by RNA polymerase II |
ISS |
8978694 |
| GO:0065004 |
Biological process |
Protein-DNA complex assembly |
ISS |
8978694 |
| GO:0000790 |
Cellular component |
Nuclear chromatin |
IDA |
21880741 |
| GO:0005634 |
Cellular component |
Nucleus |
IBA |
21873635 |
| GO:0005634 |
Cellular component |
Nucleus |
IDA |
1681116, 21828274 |
| GO:0005667 |
Cellular component |
Transcription factor complex |
IBA |
21873635 |
| GO:0005667 |
Cellular component |
Transcription factor complex |
ISS |
8978694 |
| GO:0070369 |
Cellular component |
Beta-catenin-TCF7L2 complex |
IDA |
12651860 |
| GO:1990907 |
Cellular component |
Beta-catenin-TCF complex |
IPI |
11955446 |
| GO:0000978 |
Molecular function |
RNA polymerase II proximal promoter sequence-specific DNA binding |
IBA |
21873635 |
| GO:0000978 |
Molecular function |
RNA polymerase II proximal promoter sequence-specific DNA binding |
IDA |
12651860 |
| GO:0000978 |
Molecular function |
RNA polymerase II proximal promoter sequence-specific DNA binding |
ISS |
8978694 |
| GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISM |
19274049 |
| GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISS |
8978694 |
| GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
NAS |
19274049 |
| GO:0001093 |
Molecular function |
TFIIB-class transcription factor binding |
ISS |
8978694 |
| GO:0001228 |
Molecular function |
DNA-binding transcription activator activity, RNA polymerase II-specific |
ISS |
8978694 |
| GO:0003677 |
Molecular function |
DNA binding |
IDA |
1681116, 16950124 |
| GO:0003700 |
Molecular function |
DNA-binding transcription factor activity |
IBA |
21873635 |
| GO:0003700 |
Molecular function |
DNA-binding transcription factor activity |
IDA |
2105528, 11802795 |
| GO:0005515 |
Molecular function |
Protein binding |
IPI |
10903890, 17318191, 17875931, 17983804, 21103407, 21743491, 21988832, 22699938, 25402006, 25416956, 25466284, 25609649, 29361949 |
| GO:0008022 |
Molecular function |
Protein C-terminus binding |
IPI |
10903890 |
| GO:0042802 |
Molecular function |
Identical protein binding |
IPI |
10903890, 25609649 |
| GO:0042803 |
Molecular function |
Protein homodimerization activity |
IBA |
21873635 |
| GO:0043425 |
Molecular function |
BHLH transcription factor binding |
IBA |
21873635 |
| GO:0046982 |
Molecular function |
Protein heterodimerization activity |
IBA |
21873635 |
| GO:0046982 |
Molecular function |
Protein heterodimerization activity |
NAS |
2105528 |
| GO:0070888 |
Molecular function |
E-box binding |
ISS |
8978694 |
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| Protein Information |
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Protein Name |
Transcription factor 4, SL3-3 enhancer factor 2, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2 |
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Function |
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NP_001077431.1, NP_003190.1, NP_001230155.2, NP_001230156.1, NP_001230157.1, NP_001230159.1, NP_001230160.1, NP_001230161.1, NP_001230162.1, NP_001230163.1, NP_001230164.1, NP_001230165.1, NP_001293136.1, NP_001293137.1, NP_001317533.1, NP_001317534.1, NP_001335140.1, NP_001335141.1, NP_001335142.1, NP_001335143.1, NP_001335144.1, NP_001335145.1, NP_001335146.1, NP_001335147.1, NP_001335148.1, NP_001335149.1, NP_001356496.1, NP_001356497.1, NP_001356498.1, NP_001356499.1, NP_001356500.1, NP_001356501.1, NP_001356502.1, NP_001356503.1, NP_001356504.1, NP_001356505.1, NP_001356506.1, NP_001356507.1, NP_001356508.1, NP_001356509.1, NP_001356510.1, NP_001356511.1, NP_001356512.1, NP_001356513.1, NP_001356514.1, NP_001356515.1
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UniProt |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000261037 |
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P27658 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Cardiovascular Diseases |
| Heart Diseases |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Atonic seizures |
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| Genetic Diseases |
18728071, 21671391, 27072915, 19235238, 21533127, 17436254, 22712893, 22460224, 22678594, 22581936, 28807867, 19938247, 26087656, 18627065, 17478476, 20825314, 17436255, 18081026, 22045651, 22335494, 21245398, 23185296 |
| Microcephaly |
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| Microlissencephaly |
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| Fuchs Endothelial Dystrophy |
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| Digestive System Diseases |
| Cholangitis |
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| Endocrine System Diseases |
| PCOS |
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| Neoplasms |
| Liver Cancer |
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| Nervous System Diseases |
| Seizures |
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| Neuropathy |
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| Jacksonian Seizure |
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| Nutritional and Metabolic Diseases |
| Gluocose Intolerance |
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| Psychiatric/Brain disorders |
| Pitt-Hopkins Syndrome |
28492532, 17436255, 22777675, 18414213, 18728071, 22045651, 24088041, 26633545, 28708303, 23891399, 22934316, 19235238, 25326637, 17436254, 25741868, 16531728, 25356899, 20184619 |
| Intellectual Disability |
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| Neurodevelopmental Disorders |
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| Bipolar Disorder |
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| Schizophrenia |
24718684, 24058414, 25217366, 24275585, 28540026, 23894747, 25056061, 23453885, 26198764, 19571808, 19571811, 21791550 |
| Autistic Disorder |
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| Attention Deficit Disorder |
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| Non-organic psychosis |
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| Paranoia |
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| Psychosis |
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| Mental Depression |
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References |
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| 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 |
Abstract
CONTEXT: The polycystic ovary syndrome (PCOS) is frequently associated with visceral obesity, suggesting that omental adipose tissue might play an important role in the pathogenesis of the syndrome. OBJECTIVE: The objective was to study the expression profiles of omental fat biopsy samples obtained from morbidly obese women with or without PCOS at the time of bariatric surgery. DESIGN: This was a case-control study. SETTINGS: We conducted the study in an academic hospital. PATIENTS: Eight PCOS patients and seven nonhyperandrogenic women submitted to bariatric surgery because of morbid obesity. INTERVENTIONS: Biopsy samples of omental fat were obtained during bariatric surgery. MAIN OUTCOME MEASURE: The main outcome measure was high-density oligonucleotide arrays. RESULTS: After statistical analysis, we identified changes in the expression patterns of 63 genes between PCOS and control samples. Gene classification was assessed through data mining of Gene Ontology annotations and cluster analysis of dysregulated genes between both groups. These methods highlighted abnormal expression of genes encoding certain components of several biological pathways related to insulin signaling and Wnt signaling, oxidative stress, inflammation, immune function, and lipid metabolism, as well as other genes previously related to PCOS or to the metabolic syndrome. CONCLUSION: The differences in the gene expression profiles in visceral adipose tissue of PCOS patients compared with nonhyperandrogenic women involve multiple genes related to several biological pathways, suggesting that the involvement of abdominal obesity in the pathogenesis of PCOS is more ample than previously thought and is not restricted to the induction of insulin resistance. |
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