ZFHX3 Chromosome 16
Zinc finger homeobox 3
Upload your DNA to see your personal genotypes for variants in ZFHX3.
What This Gene Does
This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Zinc fingers matrin-type|ZF class homeoboxes and pseudogenes"
Locus Type
gene with protein product
Location
16q22.2-q22.3
Ensembl
ENSG00000140836
Associated Conditions (19)
ZFHX3-related disorder
Melanoma
Adrenocortical carcinoma
hereditary
Cholangiocarcinoma
Lung cancer
Acute myeloid leukemia
Clear cell carcinoma of kidney
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
Prostate cancer
somatic
Moyamoya angiopathy
Neurodevelopmental disorder
Atrial fibrillation
familial
8
Key Variants
RS140855443
Conflicting classifications of pathogenicity
Health Risk
RS143351192
Conflicting classifications of pathogenicity
ZFHX3-related disorder, Melanoma, Adrenocortical carcinoma
Health Risk
RS147679383
Conflicting classifications of pathogenicity
Health Risk
RS148383343
Conflicting classifications of pathogenicity
ZFHX3-related disorder, Cholangiocarcinoma, Lung cancer
Health Risk
RS372337934
Conflicting classifications of pathogenicity
Health Risk
RS543893560
Conflicting classifications of pathogenicity
Health Risk
RS569425024
Conflicting classifications of pathogenicity
Health Risk
RS62639993
Conflicting classifications of pathogenicity
Health Risk
RS62640000
Conflicting classifications of pathogenicity
ZFHX3-related disorder, ZFHX3-related disorder
Health Risk
RS62640001
Conflicting classifications of pathogenicity
Health Risk
RS727502780
Conflicting classifications of pathogenicity
Prostate cancer, somatic, Prostate cancer
Health Risk
RS755516522
Conflicting classifications of pathogenicity
ZFHX3-related disorder, ZFHX3-related disorder
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140855443 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143351192 | Health Risk | Conflicting classifications of pathogenicity | ZFHX3-related disorder, Melanoma, Adrenocortical carcinoma |
| RS147679383 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148383343 | Health Risk | Conflicting classifications of pathogenicity | ZFHX3-related disorder, Cholangiocarcinoma, Lung cancer |
| RS372337934 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS543893560 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569425024 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS62639993 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS62640000 | Health Risk | Conflicting classifications of pathogenicity | ZFHX3-related disorder, ZFHX3-related disorder |
| RS62640001 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727502780 | Health Risk | Conflicting classifications of pathogenicity | Prostate cancer, somatic, Prostate cancer |
| RS755516522 | Health Risk | Conflicting classifications of pathogenicity | ZFHX3-related disorder, ZFHX3-related disorder |
| RS2038723552 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |
| RS2143405085 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2143439832 | Health Risk | Likely pathogenic | — |
| RS2144074254 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2507406125 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS775876705 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2507571642 | Health Risk | Pathogenic | — |
| RS869312913 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS12931021 | Health Risk | risk factor | Atrial fibrillation, familial, 8 |