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 |
|---|---|---|---|
| RS2512490913 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512666940 | Health Risk | Pathogenic | Corneal dystrophy, Fuchs endothelial, 3 |
| RS2512773026 | Health Risk | Pathogenic | — |
| RS2512773797 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2512776550 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2513636767 | Health Risk | Pathogenic | — |
| RS398123561 | Health Risk | Pathogenic | Intellectual disability, Pitt-Hopkins syndrome, Neurodevelopmental disorder |
| RS587784458 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784459 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784464 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Autism spectrum disorder, Pitt-Hopkins syndrome |
| RS587784465 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784468 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784469 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784470 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS727504174 | Health Risk | Pathogenic | — |
| RS727505396 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS786200992 | Health Risk | Pathogenic | — |
| RS796053418 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS796053424 | Health Risk | Pathogenic | — |
| RS796053425 | Health Risk | Pathogenic | — |
| RS796053427 | Health Risk | Pathogenic | — |
| RS796053428 | Health Risk | Pathogenic | — |
| RS797045072 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS797046033 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS797046035 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS797046036 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS863223404 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS863224934 | Health Risk | Pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS878853149 | Health Risk | Pathogenic | Intellectual disability, Pitt-Hopkins syndrome, Corneal dystrophy |
| RS886041578 | Health Risk | Pathogenic | — |
| RS886041910 | Health Risk | Pathogenic | — |
| RS1131691735 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome |
| RS1555710726 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome |
| RS1555710757 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555710813 | Health Risk | Pathogenic/Likely pathogenic | TCF4-related disorder, Pitt-Hopkins syndrome, TCF4-related disorder |
| RS1555711142 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555764839 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2047119736 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome |
| RS2048816852 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2144406630 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Pitt-Hopkins syndrome, Global developmental delay |
| RS2145503179 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511496807 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS587784463 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS727504175 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |