UTP4 Chromosome 16
UTP4 small subunit processome component
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What This Gene Does
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"WD repeat domain containing|UTPa subcomplex"
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000141076
Associated Conditions (10)
Hereditary North American Indian childhood cirrhosis
UTP4-related disorder
Ovarian serous cystadenocarcinoma
Melanoma
Nonpapillary renal cell carcinoma
Lung cancer
Cervical cancer
Clear cell carcinoma of kidney
Familial cancer of breast
Sarcoma
Key Variants
RS119465999
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis
Health Risk
RS138998503
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis
Health Risk
RS140221825
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis
Health Risk
RS144369314
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Ovarian serous cystadenocarcinoma
Health Risk
RS144493973
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, Hereditary North American Indian childhood cirrhosis
Health Risk
RS150182351
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, Hereditary North American Indian childhood cirrhosis
Health Risk
RS200957784
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis
Health Risk
RS34747774
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis
Health Risk
RS370682701
Conflicting classifications of pathogenicity
Hereditary North American Indian childhood cirrhosis, Hereditary North American Indian childhood cirrhosis
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS119465999 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis |
| RS138998503 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis |
| RS140221825 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis |
| RS144369314 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Ovarian serous cystadenocarcinoma |
| RS144493973 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, Hereditary North American Indian childhood cirrhosis |
| RS150182351 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, Hereditary North American Indian childhood cirrhosis |
| RS200957784 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis |
| RS34747774 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, UTP4-related disorder, Hereditary North American Indian childhood cirrhosis |
| RS370682701 | Health Risk | Conflicting classifications of pathogenicity | Hereditary North American Indian childhood cirrhosis, Hereditary North American Indian childhood cirrhosis |