Gene: SP110

Alternate names for this Gene: IFI41|IFI75|IPR1|VODI

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: SP110 nuclear body protein

Type of Gene: protein-coding

Gene: SP140

Alternate names for this Gene: LYSP100|LYSP100-A|LYSP100-B

Gene Summary: This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: SP140 nuclear body protein

Type of Gene: protein-coding

rs3769839 in SP110;SP140 gene and Cholangiocarcinoma PMID 28779025 2018 Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

rs3769839 in SP110;SP140 gene and Cholangitis, Sclerosing PMID 28779025 2018 Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

rs13397985 in SP110;SP140 gene and Chronic Lymphocytic Leukemia PMID 18758461 2008 We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37.1 (rs13397985, SP140; P = 5.40 x 10(-10)), 6p25.3 (rs872071, IRF4; P = 1.91 x 10(-20)), 11q24.1 (rs735665; P = 3.78 x 10(-12)), 15q23 (rs7176508; P = 4.54 x 10(-12)) and 19q13.32 (rs11083846, PRKD2; P = 3.96 x 10(-9)).

PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

PMID 22700719 2012 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.

PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

rs13397985 in SP110;SP140 gene and Erectile dysfunction PMID 22704111 2012 Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.

rs199845488 in SP110;SP140 gene and Hepatic venoocclusive disease with immunodeficiency PMID 16648851 2006 Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

PMID 22621957 2012 Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.

rs13397985 in SP110;SP140 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs13397985 in SP110;SP140 gene and Small Lymphocytic Lymphoma PMID 18758461 2008 A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.

PMID 22700719 2012 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.

PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.