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 |
|---|---|---|---|
| RS121909122 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Corneal dystrophy, Fuchs endothelial |
| RS121909123 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome, Microcephaly |
| RS1418586166 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555709893 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555710069 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555710107 | Health Risk | Pathogenic | — |
| RS1555710223 | Health Risk | Pathogenic | Microcephaly, Pitt-Hopkins syndrome, Microcephaly |
| RS1555710866 | Health Risk | Pathogenic | — |
| RS1555711245 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555717982 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555718063 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555718410 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555718426 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555721921 | Health Risk | Pathogenic | Inborn genetic diseases, Pitt-Hopkins syndrome, Inborn genetic diseases |
| RS1555763998 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555764170 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555764460 | Health Risk | Pathogenic | — |
| RS1555764797 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555778204 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555789019 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555789026 | Health Risk | Pathogenic | — |
| RS1555797231 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555797248 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555917595 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1568303086 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome |
| RS1568303352 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568305976 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Corneal dystrophy, Fuchs endothelial |
| RS1568331766 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568471940 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568490874 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568509890 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568523662 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568620706 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568620774 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1568622225 | Health Risk | Pathogenic | Corneal dystrophy, Fuchs endothelial, 3 |
| RS1569138023 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome |
| RS1599570613 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600285757 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600290109 | Health Risk | Pathogenic | — |
| RS1600404016 | Health Risk | Pathogenic | — |
| RS1600504872 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600578193 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600861021 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600861681 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600865932 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600866162 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1603483654 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2046922813 | Health Risk | Pathogenic | — |
| RS2047103931 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2047128609 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |