Homo sapiens transcription factor 4 (TCF4), transcript variant 1, mRNA.
| RefSeq Version | NM_001083962.1, 145312266 |
| Length | 8332 bp |
| Structure | linear |
| Update Date | 16-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens transcription factor 4 (TCF4), transcript variant 1, mRNA. |
| Product | transcription factor 4 isoform a |
| Comment | Summary: This gene encodes transcription factor 4, a basic helix-turn-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 expressed predominantly in pre-B-cells, although it is found in other tissues as well. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq]. Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform a). Sequence Note: This gene is distinct from TCF7L2 (alias TCF-4). |
| RefSeq | NP_001077431.1 |
| CDS | 613..2628 | Exon (1) | 1..592 | Exon (2) | 1..592 | Exon (3) | 593..684 | Exon (4) | 685..757 | Exon (5) | 758..819 | Exon (6) | 820..916 | Exon (7) | 917..981 | Exon (8) | 982..1111 | Exon (9) | 1112..1161 | Exon (10) | 1162..1267 | Exon (11) | 1268..1401 | Exon (12) | 1402..1534 | Exon (13) | 1535..1602 | Exon (14) | 1603..1681 | Exon (15) | 1682..1758 | Exon (16) | 1759..1962 | Exon (17) | 1963..2098 | Exon (18) | 2099..2261 | Exon (19) | 2262..2491 | Exon (20) | 2492..2632 | Exon (21) | 2633..8332 |
| Translation | MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWG
NGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQG
CHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGL
PSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAG
MLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPA
NGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTA
VWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ
SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKD
IKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLK
SDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPG
MGDASNHMGQM
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| Position | Chain | Variation | Link |
| complement(160) | - | t, c | dbSNP:113395332 |
| complement(592) | - | g, c | dbSNP:113414846 |
| complement(842) | - | t, c | dbSNP:76646268 |
| complement(850) | - | t, c | dbSNP:113943820 |
| complement(934) | - | g, a | dbSNP:112222111 |
| complement(1699) | - | g, a | dbSNP:113615316 |
| complement(1723) | - | c, a | dbSNP:75109886 |
| 1765 | + | c, t | dbSNP:121909122 |
| complement(1962) | - | t, c | dbSNP:11660217 |
| complement(2150) | - | g, a | dbSNP:112174081 |
| complement(2295) | - | t, c | dbSNP:71368997 |
| 2345 | + | c, g | dbSNP:121909123 |
| 2350 | + | c, t | dbSNP:121909120 |
| 2351 | + | a, g | dbSNP:121909121 |
| complement(2535) | - | t, c | dbSNP:76956936 |
| 2553 | + | a, g | dbSNP:8766 |
| complement(2681) | - | t, g | dbSNP:111947783 |
| complement(2996) | - | c, a | dbSNP:2510126 |
| complement(3034) | - | c, a | dbSNP:1610858 |
| complement(3079) | - | t, c | dbSNP:115039389 |
| 3093 | + | g, t | dbSNP:1614894 |
| complement(3133) | - | c, a | dbSNP:78459255 |
| complement(3256..3257) | - | , t | dbSNP:34674967 |
| complement(3401..3402) | - | , aa | dbSNP:59885579 |
| complement(3415) | - | c, a | dbSNP:114034750 |
| complement(3434) | - | g, a | dbSNP:1799410 |
| complement(3768) | - | c, a | dbSNP:80303209 |
| complement(3770) | - | t, c | dbSNP:116450095 |
| complement(3809) | - | g, a | dbSNP:114103361 |
| complement(3898) | - | g, a | dbSNP:117502784 |
| complement(4381) | - | , t | dbSNP:71674214 |
| complement(4531) | - | t, c | dbSNP:117913194 |
| complement(4628..4629) | - | , a | dbSNP:71761001 |
| complement(4630..4631) | - | , a | dbSNP:78776249 |
| complement(4639) | - | t, a | dbSNP:77505503 |
| complement(5041) | - | t, c | dbSNP:117362307 |
| complement(5181) | - | g, a | dbSNP:117874302 |
| complement(5319..5320) | - | , t | dbSNP:71752871 |
| complement(5579) | - | t, c | dbSNP:76640061 |
| complement(5588) | - | t, c | dbSNP:9951787 |
| 5719 | + | a, c | dbSNP:1787800 |
| complement(6015) | - | t, a | dbSNP:117984440 |
| complement(6025) | - | t, a | dbSNP:111302418 |
| complement(6316) | - | , aaaa | dbSNP:67530638 |
| 6365 | + | g, t | dbSNP:11429 |
| complement(6484) | - | , t, tt | dbSNP:72290824 |
| complement(6485) | - | t, c | dbSNP:76245439 |
| complement(6497) | - | t, c | dbSNP:116932210 |
| complement(6498) | - | , t | dbSNP:66807288 |
| complement(6533) | - | c, a | dbSNP:2510125 |
| complement(6565) | - | c, a | dbSNP:11559223 |
| complement(6610) | - | , t | dbSNP:35555522 |
| 6842 | + | g, t | dbSNP:1049482 |
| 6848 | + | g, t | dbSNP:1049483 |
| complement(6927..6928) | - | , t | dbSNP:67958522 |
| complement(6934..6935) | - | , t | dbSNP:71650037 |
| complement(6945..6946) | - | , ct | dbSNP:68066456 |
| complement(6946..6947) | - | , ct | dbSNP:61382440 |
| 6947..6948 | + | a, g | dbSNP:1063384 |
| 6953 | + | , a, g | dbSNP:1272363 |
| complement(6957) | - | t, c | dbSNP:1799409 |
| complement(6965..6966) | - | , t | dbSNP:72019269 |
| complement(6966) | - | t, g | dbSNP:117772151 |
| complement(6967..6969) | - | , ttt | dbSNP:59238025 |
| complement(6967..6968) | - | , tt | dbSNP:66702122 |
| complement(6968) | - | t, g | dbSNP:77239765 |
| complement(6970) | - | t, g | dbSNP:78681064 |
| complement(6973) | - | , t | dbSNP:71741091 |
| complement(6975..6976) | - | , t | dbSNP:11431395 |
| complement(6981) | - | , t, tt, ttt | dbSNP:35309239 |
| complement(6984) | - | t, a | dbSNP:74537831 |
| complement(7065) | - | g, c | dbSNP:61524834 |
| complement(7158) | - | t, c | dbSNP:116613924 |
| complement(7249) | - | g, a | dbSNP:78248109 |
| 7340 | + | c, t | dbSNP:1261083 |
| complement(7421) | - | t, c | dbSNP:114758604 |
| 7734 | + | c, t | dbSNP:1261084 |
| 7927 | + | a, g | dbSNP:1261085 |
| complement(7997) | - | g, a | dbSNP:75090842 |
| complement(8169) | - | t, a | dbSNP:77046538 |
| complement(8172..8173) | - | , a | dbSNP:71670792 |
| complement(8181..8182) | - | , a | dbSNP:113727315 |
| complement(8182) | - | g, a | dbSNP:74825530 |
| 8323 | + | a, c | dbSNP:3178193 |
| Gene Symbol | TCF4 |
| Gene Synonym | bHLHb19; E2-2; ITF2; MGC149723; MGC149724; PTHS; SEF2; SEF2-1; SEF2-1A; SEF2-1B |
| Chromosome | 18 |
| Locus Map | 18q21.1 |
| All Transcripts | NM_001083962 , NM_003199 |
| Title | Genome-wide Meta-analysis for Severe Diabetic Retinopathy . |
| Author | Grassi,M.A., Tikhomirov,A., Ramalingam,S., Below,J.E., Cox,N.J. and Nicolae,D.L. |
| Journal | Hum. Mol. Genet. (2011) In press |
| Title | Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries . |
| Author | Williams,H.J., Craddock,N., Russo,G., Hamshere,M.L., Moskvina,V., Dwyer,S., Smith,R.L., Green,E., Grozeva,D., Holmans,P., Owen,M.J. and O'Donovan,M.C. |
| Journal | Hum. Mol. Genet. 20 (2), 387-391 (2011) |
| Title | p15RS attenuates Wnt/{beta}-catenin signaling by disrupting {beta}-catenin.TCF4 Interaction . |
| Author | Wu,Y., Zhang,Y., Zhang,H., Yang,X., Wang,Y., Ren,F., Liu,H., Zhai,Y., Jia,B., Yu,J. and Chang,Z. |
| Journal | J. Biol. Chem. 285 (45), 34621-34631 (2010) |
| Title | E2-2 protein and Fuchs's corneal dystrophy . |
| Author | Baratz,K.H., Tosakulwong,N., Ryu,E., Brown,W.L., Branham,K., Chen,W., Tran,K.D., Schmid-Kubista,K.E., Heckenlively,J.R., Swaroop,A., Abecasis,G., Bailey,K.R. and Edwards,A.O. |
| Journal | N. Engl. J. Med. 363 (11), 1016-1024 (2010) |
| Title | NGX6 inhibits cell invasion and adhesion through suppression of Wnt/beta-catenin signal pathway in colon cancer . |
| Author | Guo,Q., Shen,S., Liao,M., Lian,P. and Wang,X. |
| Journal | Acta Biochim. Biophys. Sin. (Shanghai) 42 (7), 450-456 (2010) |
| Title | The helix-loop-helix transcription factor SEF-2 regulates the activity of a novel initiator element in the promoter of the human somatostatin receptor II gene . |
| Author | Pscherer,A., Dorflinger,U., Kirfel,J., Gawlas,K., Ruschoff,J., Buettner,R. and Schule,R. |
| Journal | EMBO J. 15 (23), 6680-6690 (1996) |
| Title | Determinants of helix-loop-helix dimerization affinity. Random mutational analysis of SCL/tal . |
| Author | Goldfarb,A.N., Lewandowska,K. and Shoham,M. |
| Journal | J. Biol. Chem. 271 (5), 2683-2688 (1996) |
| Title | Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers . |
| Author | Corneliussen,B., Thornell,A., Hallberg,B. and Grundstrom,T. |
| Journal | J. Virol. 65 (11), 6084-6093 (1991) |
| Title | Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor . |
| Author | Henthorn,P., McCarrick-Walmsley,R. and Kadesch,T. |
| Journal | Nucleic Acids Res. 18 (3), 678 (1990) |
| Title | Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif . |
| Author | Henthorn,P., Kiledjian,M. and Kadesch,T. |
| Journal | Science 247 (4941), 467-470 (1990) |
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