Description: Homo sapiens transcription factor 4 (TCF4), transcript variant 9, mRNA. RefSeq Summary (NM_001243233): 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]. Transcript (Including UTRs) Position: hg19 chr18:52,942,850-53,068,756 Size: 125,907 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr18:52,942,939-53,068,254 Size: 125,316 Coding Exon Count: 5
Fuchs Endothelial Dystrophy Keith H Baratz et al. The New England journal of medicine 2010, E2-2 protein and Fuchs's corneal dystrophy., The New England journal of medicine.
[PubMed 20825314]
Genetic variation in TCF4 contributes to the development of FCD. (Funded by the National Eye Institute and others.)
schizophrenia International Schizophrenia Consortium ,et al. 2009, Common polygenic variation contributes to risk of schizophrenia and bipolar disorder, Nature 2009 460- 7256 : 748-52.
[PubMed 19571811]
schizophrenia Stefansson ,et al. 2009, Common variants conferring risk of schizophrenia, Nature 2009 460- 7256 : 744-7.
[PubMed 19571808]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
M74718 - Human SEF2-1A protein (SEF2-1A) mRNA, 5' end. AK300038 - Homo sapiens cDNA FLJ54545 complete cds, highly similar to Transcription factor 4. AK096862 - Homo sapiens cDNA FLJ39543 fis, clone PUAEN2008939, highly similar to TRANSCRIPTION FACTOR 4. AK301144 - Homo sapiens cDNA FLJ58695 complete cds, highly similar to Transcription factor 4. M74719 - Human SEF2-1B protein (SEF2-1B) mRNA, complete cds. AK299169 - Homo sapiens cDNA FLJ58684 complete cds, highly similar to Transcription factor 4. AB209741 - Homo sapiens mRNA for transcription factor 4 isoform b variant protein. AK300636 - Homo sapiens cDNA FLJ53660 complete cds, highly similar to Transcription factor 4. AK095041 - Homo sapiens cDNA FLJ37722 fis, clone BRHIP2019186, highly similar to TRANSCRIPTION FACTOR 4. X52079 - H.sapiens transcription factor (ITF-2) mRNA, 3' end. AK300612 - Homo sapiens cDNA FLJ61772 complete cds, highly similar to Transcription factor 4. AK122765 - Homo sapiens cDNA FLJ16304 fis, clone PUAEN2003408, highly similar to TRANSCRIPTION FACTOR 4. BC125084 - Homo sapiens transcription factor 4, mRNA (cDNA clone MGC:149723 IMAGE:40117795), complete cds. BC125085 - Homo sapiens transcription factor 4, mRNA (cDNA clone MGC:149724 IMAGE:40117798), complete cds. FR748222 - Homo sapiens mRNA for transcription factor 4 isoform H- (TCF4 gene). FR748220 - Homo sapiens mRNA for transcription factor 4 isoform A+ (TCF4 gene). FR748221 - Homo sapiens mRNA for transcription factor 4 isoform A- (TCF4 gene). FR748218 - Homo sapiens mRNA for transcription factor 4 isoform D- (TCF4 gene). FR748219 - Homo sapiens mRNA for transcription factor 4 isoform G- (TCF4 gene). FR748217 - Homo sapiens mRNA for transcription factor 4 isoform F- (TCF4 gene). FR748214 - Homo sapiens mRNA for transcription factor 4 isoform C- (TCF4 gene). FR748215 - Homo sapiens mRNA for transcription factor 4 isoform C- delta (TCF4 gene). FR748210 - Homo sapiens mRNA for transcription factor 4 isoform B+ (TCF4 gene). FR748211 - Homo sapiens mRNA for transcription factor 4 isoform B- (TCF4 gene). FR748212 - Homo sapiens mRNA for transcription factor 4 isoform B+ delta (TCF4 gene). FR748213 - Homo sapiens mRNA for transcription factor 4 isoform B- delta (TCF4 gene). FR748216 - Homo sapiens mRNA for transcription factor 4 isoform E- (TCF4 gene). BC031056 - Homo sapiens transcription factor 4, mRNA (cDNA clone IMAGE:5273193). AK316165 - Homo sapiens cDNA, FLJ79064 complete cds, highly similar to Transcription factor 4. AK315074 - Homo sapiens cDNA, FLJ96028. KJ897642 - Synthetic construct Homo sapiens clone ccsbBroadEn_07036 TCF4 gene, encodes complete protein. KJ905937 - Synthetic construct Homo sapiens clone ccsbBroadEn_15607 TCF4 gene, encodes complete protein. KR711928 - Synthetic construct Homo sapiens clone CCSBHm_00032181 TCF4 (TCF4) mRNA, encodes complete protein. KR711929 - Synthetic construct Homo sapiens clone CCSBHm_00032187 TCF4 (TCF4) mRNA, encodes complete protein. KR711930 - Synthetic construct Homo sapiens clone CCSBHm_00032188 TCF4 (TCF4) mRNA, encodes complete protein. KR711931 - Synthetic construct Homo sapiens clone CCSBHm_00032190 TCF4 (TCF4) mRNA, encodes complete protein. AB527692 - Synthetic construct DNA, clone: pF1KB6272, Homo sapiens TCF4 gene for transcription factor 4, without stop codon, in Flexi system. KJ901782 - Synthetic construct Homo sapiens clone ccsbBroadEn_11176 TCF4 gene, encodes complete protein. CR933675 - Homo sapiens mRNA; cDNA DKFZp781D0421 (from clone DKFZp781D0421). FR748208 - Homo sapiens partial mRNA for transcription factor 4 isoform D (TCF4 gene). FR748209 - Homo sapiens partial mRNA for transcription factor 4 isoform D (TCF4 gene). FR748207 - Homo sapiens partial mRNA for transcription factor 4 isoform R (TCF4 gene). FR748205 - Homo sapiens partial mRNA for transcription factor 4 isoform B (TCF4 gene). FR748223 - Homo sapiens mRNA for transcription factor 4 isoform I- (TCF4 gene). M74720 - Human SEF2-1D protein (SEF2-1D) mRNA, partial cds.