TCF4 Chromosome 18
Transcription factor 4
Upload your DNA to see your personal genotypes for variants in TCF4.
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 |
|---|---|---|---|
| RS2046802180 | Health Risk | Likely pathogenic | — |
| RS2047096127 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2047106597 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2047107163 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2047109965 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2048178923 | Health Risk | Likely pathogenic | — |
| RS2048818361 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2057699910 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144361580 | Health Risk | Likely pathogenic | — |
| RS2144403104 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144674947 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144675392 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144676461 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144897134 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145503668 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145681074 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2145729186 | Health Risk | Likely pathogenic | — |
| RS2145955178 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2146144769 | Health Risk | Likely pathogenic | — |
| RS2146265828 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2146265987 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511498290 | Health Risk | Likely pathogenic | TCF4-related disorder, TCF4-related disorder |
| RS2511585414 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511637591 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512178559 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2512251370 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2512294848 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512489318 | Health Risk | Likely pathogenic | — |
| RS2512663904 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512664352 | Health Risk | Likely pathogenic | Corneal dystrophy, Fuchs endothelial, 3 |
| RS398123560 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784460 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784462 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784466 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS751190049 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS765253165 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS796053429 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS797045003 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS797046034 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS886041248 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS895426748 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1057518339 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1057518848 | Health Risk | Pathogenic | Global developmental delay, Cerebral hypoplasia, Pitt-Hopkins syndrome |
| RS1057518864 | Health Risk | Pathogenic | 7 conditions, Pitt-Hopkins syndrome, 7 conditions |
| RS1064796538 | Health Risk | Pathogenic | — |
| RS1064796853 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1131691653 | Health Risk | Pathogenic | — |
| RS1135401807 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS121909120 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Severe intellectual deficiency, Inborn genetic diseases |
| RS121909121 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Malignant tumor of esophagus, Pitt-Hopkins syndrome |