TCF4 transcription factor 4
Gene ID: 6925, updated on 2-Nov-2024Gene type: protein coding
Also known as: E2-2; FCD2; ITF2; PTHS; SEF2; CDG2T; FECD3; ITF-2; SEF-2; TCF-4; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; bHLHb19
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- Go to complete Gene record for TCF4
- Go to Variation Viewer for TCF4 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A comprehensive family-based replication study of schizophrenia genes. GeneReviews: Not available | |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Common variants conferring risk of schizophrenia. GeneReviews: Not available | |
| Corneal dystrophy, Fuchs endothelial, 3 | not available |
| E2-2 protein and Fuchs's corneal dystrophy. GeneReviews: Not available | |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4. GeneReviews: Not available | |
| Genome-wide association study identifies five new schizophrenia loci. GeneReviews: Not available | |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available | |
| Genome-wide meta-analysis for severe diabetic retinopathy. GeneReviews: Not available | |
| Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. GeneReviews: Not available | |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| Pitt-Hopkins syndrome | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-07-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 18q21.2
- Sequence:
- Chromosome: 18; NC_000018.10 (55222185..55635957, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TCF4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TCF4 @ LOVD
- Variation ViewerRelated Variants
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