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• W2077814048 abstract "Abstract Common SNPs in the transcription factor 4 (TCF4; ITF2, E2‐2, SEF‐2) gene, which encodes a basic Helix‐Loop‐Helix (bHLH) transcription factor, are associated with schizophrenia, conferring a small increase in risk. Other common SNPs in the gene are associated with the common eye disorder Fuch's corneal dystrophy, while rare, mostly de novo inactivating mutations cause Pitt‐Hopkins syndrome. In this review, we present a systematic bioinformatics and literature review of the genomics, biological function and interactome of TCF4 in the context of schizophrenia. The TCF4 gene is present in all vertebrates, and although protein length varies, there is high conservation of primary sequence, including the DNA binding domain. Humans have a unique leucine‐rich nuclear export signal. There are two main isoforms (A and B), as well as complex splicing generating many possible N‐terminal amino acid sequences. TCF4 is highly expressed in the brain, where plays a role in neurodevelopment, interacting with class II bHLH transcription factors Math1, HASH1, and neuroD2. The Ca 2+ sensor protein calmodulin interacts with the DNA binding domain of TCF4, inhibiting transcriptional activation. It is also the target of microRNAs, including mir137, which is implicated in schizophrenia. The schizophrenia‐associated SNPs are in linkage disequilibrium with common variants within putative DNA regulatory elements, suggesting that regulation of expression may underlie association with schizophrenia. Combined gene co‐expression analyses and curated protein–protein interaction data provide a network involving TCF4 and other putative schizophrenia susceptibility genes. These findings suggest new opportunities for understanding the molecular basis of schizophrenia and other mental disorders. © 2012 Wiley Periodicals, Inc." @default.
• W2077814048 created "2016-06-24" @default.
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• W2077814048 date "2012-11-05" @default.
• W2077814048 modified "2023-10-17" @default.
• W2077814048 title "<i>TCF4</i>(<i>e2-2; ITF2</i>): A schizophrenia-associated gene with pleiotropic effects on human disease" @default.
• W2077814048 cites W1565506774 @default.
• W2077814048 cites W1570393711 @default.
• W2077814048 cites W1579422699 @default.
• W2077814048 cites W1580316172 @default.
• W2077814048 cites W1906377272 @default.
• W2077814048 cites W1912689628 @default.
• W2077814048 cites W192126501 @default.
• W2077814048 cites W1942644997 @default.
• W2077814048 cites W1963595786 @default.
• W2077814048 cites W1963777304 @default.
• W2077814048 cites W1967337983 @default.
• W2077814048 cites W1967729638 @default.
• W2077814048 cites W1968762077 @default.
• W2077814048 cites W1969234199 @default.
• W2077814048 cites W1970647876 @default.
• W2077814048 cites W1971823432 @default.
• W2077814048 cites W1972315444 @default.
• W2077814048 cites W1972401591 @default.
• W2077814048 cites W1972538107 @default.
• W2077814048 cites W1975807544 @default.
• W2077814048 cites W1976209715 @default.
• W2077814048 cites W1978026413 @default.
• W2077814048 cites W1979612171 @default.
• W2077814048 cites W1979743168 @default.
• W2077814048 cites W1981756836 @default.
• W2077814048 cites W1984203471 @default.
• W2077814048 cites W1984359015 @default.
• W2077814048 cites W1986520636 @default.
• W2077814048 cites W1989715435 @default.
• W2077814048 cites W1992902151 @default.
• W2077814048 cites W1993588417 @default.
• W2077814048 cites W1995444126 @default.
• W2077814048 cites W1996212302 @default.
• W2077814048 cites W1999869217 @default.
• W2077814048 cites W2001117361 @default.
• W2077814048 cites W2002051393 @default.
• W2077814048 cites W2005281324 @default.
• W2077814048 cites W2005545687 @default.
• W2077814048 cites W2006387633 @default.
• W2077814048 cites W2007508740 @default.
• W2077814048 cites W2009063507 @default.
• W2077814048 cites W2010480407 @default.
• W2077814048 cites W2012806378 @default.
• W2077814048 cites W2013320161 @default.
• W2077814048 cites W2015527173 @default.
• W2077814048 cites W2016390086 @default.
• W2077814048 cites W2016494568 @default.
• W2077814048 cites W2018655601 @default.
• W2077814048 cites W2019813370 @default.
• W2077814048 cites W2021035407 @default.
• W2077814048 cites W2022689242 @default.
• W2077814048 cites W2025113498 @default.
• W2077814048 cites W2027176344 @default.
• W2077814048 cites W2027448315 @default.
• W2077814048 cites W2029037348 @default.
• W2077814048 cites W2029629696 @default.
• W2077814048 cites W2031356649 @default.
• W2077814048 cites W2033201031 @default.
• W2077814048 cites W2036610262 @default.
• W2077814048 cites W2037013087 @default.
• W2077814048 cites W2037995604 @default.
• W2077814048 cites W2038068026 @default.
• W2077814048 cites W2039766969 @default.
• W2077814048 cites W2040427221 @default.
• W2077814048 cites W2046979654 @default.
• W2077814048 cites W2047103386 @default.
• W2077814048 cites W2048704894 @default.
• W2077814048 cites W2050478749 @default.
• W2077814048 cites W2050566213 @default.
• W2077814048 cites W2052750818 @default.
• W2077814048 cites W2057087580 @default.
• W2077814048 cites W2057424671 @default.
• W2077814048 cites W2059074770 @default.
• W2077814048 cites W2059699217 @default.
• W2077814048 cites W2060481603 @default.
• W2077814048 cites W2060842569 @default.
• W2077814048 cites W2063381162 @default.
• W2077814048 cites W2063569880 @default.
• W2077814048 cites W2065497151 @default.
• W2077814048 cites W2069540488 @default.
• W2077814048 cites W2069941950 @default.
• W2077814048 cites W2071367508 @default.
• W2077814048 cites W2072484559 @default.
• W2077814048 cites W2073061970 @default.

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