ZFHX3 Chromosome 16

Zinc finger homeobox 3
21 variants 21 Health Risk

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
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
Sign Up to Analyze Your DNA Log In