SP110 Chromosome 2
SP110 nuclear body protein
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What This Gene Does
The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|Minor histocompatibility antigens|Bromodomain containing|SAND domain containing"
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000135899
Associated Conditions (11)
Hepatic veno-occlusive disease-immunodeficiency syndrome
Mycobacterium tuberculosis
susceptibility to
SP110-related disorder
Inborn genetic diseases
Clear cell carcinoma of kidney
Acute myeloid leukemia
Lung cancer
Ovarian cancer
Nonpapillary renal cell carcinoma
Familial cancer of breast
Key Variants
RS114743173
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis, susceptibility to
Health Risk
RS115361843
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
Health Risk
RS1167489264
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
Health Risk
RS144163010
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
Health Risk
RS145154247
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases, Hepatic veno-occlusive disease-immunodeficiency syndrome
Health Risk
RS147011203
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases, Hepatic veno-occlusive disease-immunodeficiency syndrome
Health Risk
RS148591984
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis, susceptibility to
Health Risk
RS200099412
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases, Hepatic veno-occlusive disease-immunodeficiency syndrome
Health Risk
RS200753717
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
Health Risk
RS201034113
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, SP110-related disorder, Nonpapillary renal cell carcinoma
Health Risk
RS201059449
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
Health Risk
RS201853984
Conflicting classifications of pathogenicity
Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases, Hepatic veno-occlusive disease-immunodeficiency syndrome
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751020218 | Health Risk | Pathogenic/Likely pathogenic | Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis, susceptibility to |
| RS754452211 | Health Risk | Pathogenic/Likely pathogenic | Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis, susceptibility to |
| RS763364899 | Health Risk | Pathogenic/Likely pathogenic | Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis, susceptibility to |
| RS927135298 | Health Risk | Pathogenic/Likely pathogenic | Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome |