ZC4H2 Chromosome X
Zinc finger C4H2-type containing
Upload your DNA to see your personal genotypes for variants in ZC4H2.
What This Gene Does
This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Zinc fingers
Locus Type
gene with protein product
Location
Xq11.2
Ensembl
ENSG00000126970
Associated Conditions (12)
Inborn genetic diseases
Nonpapillary renal cell carcinoma
Wieacker-Wolff syndrome
female-restricted
Wieacker-Wolff syndrome (spectrum)
ZC4H2-related disorder
See cases
Neurodevelopmental disorder
ZC4H2-related X-linked intellectual disability
Thyroid cancer
nonmedullary
1
Key Variants
RS1361669364
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2068086975
Conflicting classifications of pathogenicity
Health Risk
RS2147345630
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369918702
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nonpapillary renal cell carcinoma, Inborn genetic diseases
Health Risk
RS756615930
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064795753
Likely pathogenic
Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome
Health Risk
RS137962226
Likely pathogenic
Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome (spectrum)
Health Risk
RS1555933616
Likely pathogenic
Wieacker-Wolff syndrome, ZC4H2-related disorder, Wieacker-Wolff syndrome
Health Risk
RS1569200407
Likely pathogenic
Health Risk
RS1929057155
Likely pathogenic
Health Risk
RS1929057804
Likely pathogenic
Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
Health Risk
RS1931569117
Likely pathogenic
Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1361669364 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2068086975 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147345630 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369918702 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Nonpapillary renal cell carcinoma, Inborn genetic diseases |
| RS756615930 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1064795753 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS137962226 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome (spectrum) |
| RS1555933616 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, ZC4H2-related disorder, Wieacker-Wolff syndrome |
| RS1569200407 | Health Risk | Likely pathogenic | — |
| RS1929057155 | Health Risk | Likely pathogenic | — |
| RS1929057804 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1931569117 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS2147345669 | Health Risk | Likely pathogenic | — |
| RS2147347136 | Health Risk | Likely pathogenic | — |
| RS2147349618 | Health Risk | Likely pathogenic | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2147349682 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS2519690121 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS2519691731 | Health Risk | Likely pathogenic | See cases, See cases |
| RS398122939 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, Neurodevelopmental disorder, Wieacker-Wolff syndrome |
| RS750367160 | Health Risk | Likely pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS879255362 | Health Risk | Likely pathogenic | — |
| RS1057520297 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1057520298 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, ZC4H2-related X-linked intellectual disability, Wieacker-Wolff syndrome |
| RS1057520299 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1064795680 | Health Risk | Pathogenic | — |
| RS1555933851 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555945816 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1602379828 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1602382354 | Health Risk | Pathogenic | — |
| RS182681228 | Health Risk | Pathogenic | — |
| RS1929002470 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1929006117 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1929007323 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS1929070198 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS1929135614 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS1929136990 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Inborn genetic diseases, Wieacker-Wolff syndrome |
| RS1929207873 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS1929216641 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS2147345743 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS2147421854 | Health Risk | Pathogenic | — |
| RS2519693665 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS2519693722 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519696329 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |
| RS398122938 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS797044863 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS879255236 | Health Risk | Pathogenic | Wieacker-Wolff syndrome, Inborn genetic diseases, Wieacker-Wolff syndrome (spectrum) |
| RS1131691616 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Wieacker-Wolff syndrome, female-restricted |
| RS1260869746 | Health Risk | Pathogenic/Likely pathogenic | Wieacker-Wolff syndrome, Thyroid cancer, nonmedullary |
| RS879255235 | Health Risk | Pathogenic/Likely pathogenic | Wieacker-Wolff syndrome, female-restricted, Wieacker-Wolff syndrome |