SP140 (SP140 nuclear body protein)

2014-11-01  

Identity

HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
LYSP100,LYSP100-A,LYSP100-B
FUSION GENES

Other Information

Locus ID:

NCBI: 11262
MIM: 608602
HGNC: 17133
Ensembl: ENSG00000079263

Variants:

dbSNP: 11262
ClinVar: 11262
TCGA: ENSG00000079263
COSMIC: SP140

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079263ENST00000343805Q13342
ENSG00000079263ENST00000373645Q13342
ENSG00000079263ENST00000392045Q13342
ENSG00000079263ENST00000417495Q13342
ENSG00000079263ENST00000420434Q13342
ENSG00000079263ENST00000456542U3KPV9

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
359526712022Epigenetic reader SP140 loss of function drives Crohn's disease due to uncontrolled macrophage topoisomerases.12
361305932022Immune chromatin reader SP140 regulates microbiota and risk for inflammatory bowel disease.5
366006522022SP140 inhibits STAT1 signaling, induces IFN-γ in tumor-associated macrophages, and is a predictive biomarker of immunotherapy response.7
359526712022Epigenetic reader SP140 loss of function drives Crohn's disease due to uncontrolled macrophage topoisomerases.12
361305932022Immune chromatin reader SP140 regulates microbiota and risk for inflammatory bowel disease.5
366006522022SP140 inhibits STAT1 signaling, induces IFN-γ in tumor-associated macrophages, and is a predictive biomarker of immunotherapy response.7
304658162019Sp140 is a multi-SUMO-1 target and its PHD finger promotes SUMOylation of the adjacent Bromodomain.10
304658162019Sp140 is a multi-SUMO-1 target and its PHD finger promotes SUMOylation of the adjacent Bromodomain.10
301023962018SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition.18
301023962018SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition.18
268884522016Whole Genome DNA Methylation Analysis of Obstructive Sleep Apnea: IL1R2, NPR2, AR, SP140 Methylation and Clinical Phenotype.27
268884522016Whole Genome DNA Methylation Analysis of Obstructive Sleep Apnea: IL1R2, NPR2, AR, SP140 Methylation and Clinical Phenotype.27
261522012015A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.26
261522012015A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.26
203322612010Genetic susceptibility variants for chronic lymphocytic leukemia.18

Citation

Dessen P

SP140 (SP140 nuclear body protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74086/sp140-(sp140-nuclear-body-protein)