TCF4 Chromosome 18
Transcription factor 4
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
18q21.2
Ensembl
ENSG00000196628
Associated Conditions (19)
Oculomotor apraxia
Pitt-Hopkins syndrome
Inborn genetic diseases
Corneal dystrophy
Fuchs endothelial
3
TCF4-related disorder
Medulloblastoma SHH activated
Intellectual disability
Hereditary spastic paraplegia 4
Global developmental delay
Cerebral hypoplasia
7 conditions
Severe intellectual deficiency
Malignant tumor of esophagus
Microcephaly
Developmental disorder
Neurodevelopmental disorder
Autism spectrum disorder
Key Variants
RS1016959427
Conflicting classifications of pathogenicity
Oculomotor apraxia, Pitt-Hopkins syndrome, Oculomotor apraxia
Health Risk
RS1327666670
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
Health Risk
RS143594544
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome
Health Risk
RS1470608351
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
Health Risk
RS148308964
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
Health Risk
RS1555789091
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
Health Risk
RS1603286090
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
Health Risk
RS201721676
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
Health Risk
RS201776550
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome
Health Risk
RS2082192813
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
Health Risk
RS2097656766
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
Health Risk
RS2511499903
Conflicting classifications of pathogenicity
Pitt-Hopkins syndrome, Corneal dystrophy, Fuchs endothelial
Health Risk
All Variants (244)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2056279996 | Health Risk | Pathogenic | — |
| RS2056308423 | Health Risk | Pathogenic | — |
| RS2056315077 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2057097206 | Health Risk | Pathogenic | — |
| RS2059972276 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2059973359 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2061366129 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2061376825 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2061391242 | Health Risk | Pathogenic | — |
| RS2062114611 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2062118353 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2082083331 | Health Risk | Pathogenic | — |
| RS2082085635 | Health Risk | Pathogenic | — |
| RS2144400328 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144408449 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144596313 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144896799 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145500473 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145598769 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145600541 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145729217 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145956310 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145958521 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2146144310 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2146147977 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2146148271 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2146264329 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2466185862 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2511499126 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511499685 | Health Risk | Pathogenic | Developmental disorder, Developmental disorder |
| RS2511581925 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511633571 | Health Risk | Pathogenic | Global developmental delay, Global developmental delay |
| RS2511634823 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511635953 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2511637381 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511931348 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512065527 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512108021 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512110932 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512111219 | Health Risk | Pathogenic | TCF4-related disorder, TCF4-related disorder |
| RS2512178640 | Health Risk | Pathogenic | — |
| RS2512178673 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512178695 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2512179036 | Health Risk | Pathogenic | — |
| RS2512219546 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512226967 | Health Risk | Pathogenic | Corneal dystrophy, Fuchs endothelial, 3 |
| RS2512296129 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512489495 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512489651 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512490654 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |