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 |
|---|---|---|---|
| RS1016959427 | Health Risk | Conflicting classifications of pathogenicity | Oculomotor apraxia, Pitt-Hopkins syndrome, Oculomotor apraxia |
| RS1327666670 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS143594544 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome |
| RS1470608351 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS148308964 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555789091 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1603286090 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS201721676 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS201776550 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Inborn genetic diseases, Pitt-Hopkins syndrome |
| RS2082192813 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2097656766 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511499903 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Corneal dystrophy, Fuchs endothelial |
| RS541527476 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS556687934 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS749161770 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS752700752 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS763329139 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS763742755 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS765833827 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS766726309 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS768573052 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS796053419 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS930778822 | Health Risk | Conflicting classifications of pathogenicity | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1057519592 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1057521070 | Health Risk | Likely pathogenic | Inborn genetic diseases, Pitt-Hopkins syndrome, TCF4-related disorder |
| RS1057524821 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1064795443 | Health Risk | Likely pathogenic | — |
| RS1064796134 | Health Risk | Likely pathogenic | — |
| RS1188916145 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1230192802 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS140078086 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555708227 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555710127 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555710171 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555710416 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555710523 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555718354 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555722023 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555775233 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555782724 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555796785 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1555917396 | Health Risk | Likely pathogenic | — |
| RS1568329461 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1599375711 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1599377405 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600275237 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1600404795 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Corneal dystrophy, Fuchs endothelial |
| RS1601260508 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1603282307 | Health Risk | Likely pathogenic | Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1603624808 | Health Risk | Likely pathogenic | — |