ZFHX4 Chromosome 8
Zinc finger homeobox 4
Upload your DNA to see your personal genotypes for variants in ZFHX4.
What This Gene Does
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Zinc fingers matrin-type|ZF class homeoboxes and pseudogenes"
Locus Type
gene with protein product
Location
8q21.13
Ensembl
ENSG00000091656
Associated Conditions (2)
ZFHX4-related disorder
Neurodevelopmental disorder
Key Variants
RS200621033
Conflicting classifications of pathogenicity
Health Risk
RS201352165
Conflicting classifications of pathogenicity
ZFHX4-related disorder, ZFHX4-related disorder
Health Risk
RS375393965
Conflicting classifications of pathogenicity
Health Risk
RS540438938
Conflicting classifications of pathogenicity
Health Risk
RS781583220
Conflicting classifications of pathogenicity
Health Risk
RS1812496169
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2131940356
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1563560495
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2131614875
Pathogenic
Health Risk
RS2536400339
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200621033 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201352165 | Health Risk | Conflicting classifications of pathogenicity | ZFHX4-related disorder, ZFHX4-related disorder |
| RS375393965 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS540438938 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781583220 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1812496169 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2131940356 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1563560495 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2131614875 | Health Risk | Pathogenic | — |
| RS2536400339 | Health Risk | Pathogenic | — |