ZFHX2 Chromosome 14
Zinc finger homeobox 2
Upload your DNA to see your personal genotypes for variants in ZFHX2.
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. Involved in regulation of sensory perception of pain. Located in nucleus. Implicated in Marsili syndrome. [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
14q11.2
Ensembl
ENSG00000136367
Associated Conditions (4)
Indifference to pain
congenital
autosomal dominant
ZFHX2-related disorder
Key Variants
RS1055701850
Conflicting classifications of pathogenicity
Health Risk
RS1220815012
Conflicting classifications of pathogenicity
Health Risk
RS201801159
Conflicting classifications of pathogenicity
Indifference to pain, congenital, autosomal dominant
Health Risk
RS368892129
Conflicting classifications of pathogenicity
Health Risk
RS527943085
Conflicting classifications of pathogenicity
Health Risk
RS540160949
Conflicting classifications of pathogenicity
Health Risk
RS543843286
Conflicting classifications of pathogenicity
Health Risk
RS566246733
Conflicting classifications of pathogenicity
Health Risk
RS566304076
Conflicting classifications of pathogenicity
Health Risk
RS575221770
Conflicting classifications of pathogenicity
ZFHX2-related disorder, ZFHX2-related disorder
Health Risk
RS773850439
Conflicting classifications of pathogenicity
Health Risk
RS780826119
Conflicting classifications of pathogenicity
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1055701850 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1220815012 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201801159 | Health Risk | Conflicting classifications of pathogenicity | Indifference to pain, congenital, autosomal dominant |
| RS368892129 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS527943085 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS540160949 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS543843286 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS566246733 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS566304076 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS575221770 | Health Risk | Conflicting classifications of pathogenicity | ZFHX2-related disorder, ZFHX2-related disorder |
| RS773850439 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780826119 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555344723 | Health Risk | Pathogenic | Indifference to pain, congenital, autosomal dominant |