Description: Homo sapiens transcription factor 4 (TCF4), transcript variant 6, mRNA. RefSeq Summary (NM_001243230): 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 chr18:52,889,562-53,255,860 Size: 366,299 Total Exon Count: 19 Strand: - Coding Region Position: hg19 chr18:52,895,456-53,255,766 Size: 360,311 Coding Exon Count: 18
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]
Schizophrenia Hreinn Stefansson et al. Nature 2009, Common variants conferring risk of schizophrenia., Nature.
[PubMed 19571808]
Schizophrenia Shaun M Purcell et al. Nature 2009, Common polygenic variation contributes to risk of schizophrenia and bipolar disorder., Nature.
[PubMed 19571811]
Schizophrenia Stephan Ripke et al. Nature genetics 2011, Genome-wide association study identifies five new schizophrenia loci., Nature genetics.
[PubMed 21926974]
Survival Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics.
[PubMed 17903295]
Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.
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.
ModBase Predicted Comparative 3D Structure on G0LNU5
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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.
US Server
