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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SP110
SP110 nuclear body protein
Chromosome 2 Β· 2q37.1
NCBI Gene: 3431Ensembl: ENSG00000135899.20HGNC: HGNC:5401UniProt: A0A8V8TN67
74PubMed Papers
21Diseases
0Drugs
41Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusnucleoplasmregulation of transcription by RNA polymerase IIDNA-binding transcription factor activity, RNA polymerase II-specifichepatic veno-occlusive disease-immunodeficiency syndromeHepatic veno-occlusive disease - immunodeficiencylymphoid neoplasmCrohn's disease
✦AI Summary

SP110 is a nuclear transcription factor and coactivator of nuclear hormone receptors 1 that regulates genes containing retinoic acid response elements. SP110 functions as a positive regulator of inflammatory and interferon response genes during pathogen infection. In Mycobacterium tuberculosis-infected macrophages, SP110 acts as a positive regulator of type I interferon response genes and inflammatory gene expression; depletion of SP110 impairs induction of these genes 2. Similarly, SP110 is required for Anaplasma phagocytophilum infection establishment, with Sp110 mRNA levels increasing during infection and RNA interference knockdown reducing bacterial infection levels 1. During hepatitis B virus infection, SP110 undergoes ubiquitination by UBR7 E3 ligase at its SAND domain, which downregulates type I interferon response pathway genes, promoting viral persistence and hepatocellular carcinoma development 3. Regarding tuberculosis susceptibility, genetic studies show conflicting results. While SP110 SNP rs9061 showed significant association with TB risk in meta-analyses 45, other studies found no significant associations in specific populations 67, and an earlier meta-analysis concluded no robust evidence for SP110 involvement in TB susceptibility 8. SP110 mutations are associated with hepatic venoocclusive disease with immunodeficiency, reflecting its critical role in immune regulation.

Sources cited
1
SP110 acts as a positive regulator of inflammatory response genes including type I interferon genes in M. tuberculosis-infected macrophages
PMID: 39162523
2
SP110 functions as a nuclear hormone receptor transcriptional coactivator and is required for A. phagocytophilum infection
PMID: 17883869
3
UBR7 ubiquitinates SP110 at its SAND domain, downregulating type I interferon response pathway genes during HBV infection
PMID: 38938101
4
SP110 SNP rs9061 confers significantly increased TB risk across multiple genetic models and ethnic groups
PMID: 27873510
5
SP110 rs9061 T allele and MYBBP1A variants show significant association with TB in Chinese Han population with gene-gene interactions
PMID: 23129390
6
Meta-analysis of 10,624 subjects found no significant association between SP110 polymorphisms and TB susceptibility overall
PMID: 22691368
7
No statistically significant associations found between SP110 SNPs and pulmonary TB in Indonesian population
PMID: 22522001
8
SP110 SNPs rs722555 and rs1135791 showed no association with pulmonary or spinal TB in southern China
PMID: 29430075
Disease Associationsβ“˜21
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.76Strong
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.66Moderate
lymphoid neoplasmOpen Targets
0.41Moderate
Crohn's diseaseOpen Targets
0.33Weak
cervical carcinomaOpen Targets
0.27Weak
frozen shoulderOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
multiple sclerosisOpen Targets
0.16Weak
chronic lymphocytic leukemiaOpen Targets
0.16Weak
leukemiaOpen Targets
0.11Weak
lymphoid leukemiaOpen Targets
0.09Suggestive
Townes-Brocks syndromeOpen Targets
0.06Suggestive
Abruptio PlacentaeOpen Targets
0.06Suggestive
multiple myelomaOpen Targets
0.06Suggestive
non-Hodgkins lymphomaOpen Targets
0.06Suggestive
Hodgkins lymphomaOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.05Suggestive
testicular diseaseOpen Targets
0.05Suggestive
placenta praeviaOpen Targets
0.04Suggestive
medical procedureOpen Targets
0.04Suggestive
Hepatic venoocclusive disease with immunodeficiencyUniProt
Pathogenic Variants41
NM_080424.4(SP110):c.1660C>T (p.Arg554Ter)Pathogenic
not provided|Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 554
NM_080424.4(SP110):c.1362dup (p.Asp455Ter)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome;Mycobacterium tuberculosis, susceptibility to|Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 455
NM_080424.4(SP110):c.1030C>T (p.Arg344Ter)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome|Hepatic veno-occlusive disease-immunodeficiency syndrome;Mycobacterium tuberculosis, susceptibility to
β˜…β˜…β˜†β˜†2025β†’ Residue 344
NM_080424.4(SP110):c.642del (p.Ser215fs)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 215
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome|Mycobacterium tuberculosis, susceptibility to;Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 631
NM_080424.4(SP110):c.686dup (p.Gln231fs)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome|Hepatic veno-occlusive disease-immunodeficiency syndrome;Mycobacterium tuberculosis, susceptibility to
β˜…β˜…β˜†β˜†2024β†’ Residue 231
NM_080424.4(SP110):c.1342C>T (p.Arg448Ter)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome|Hepatic veno-occlusive disease-immunodeficiency syndrome;Mycobacterium tuberculosis, susceptibility to
β˜…β˜…β˜†β˜†2024β†’ Residue 448
NM_080424.4(SP110):c.1428_1429del (p.Tyr476_Lys477delinsTer)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome|Hepatic veno-occlusive disease-immunodeficiency syndrome;Mycobacterium tuberculosis, susceptibility to
β˜…β˜…β˜†β˜†2024β†’ Residue 476
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 373
NM_080424.4(SP110):c.1888-2A>GLikely pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜…β˜†β˜†2023
NM_080424.4(SP110):c.1261C>T (p.Arg421Ter)Pathogenic
not provided|Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜…β˜†β˜†2021β†’ Residue 421
NM_080424.4(SP110):c.1448-2A>GLikely pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2025
NM_080424.4(SP110):c.1279+1G>TLikely pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2025
NM_080424.4(SP110):c.1447+1G>CLikely pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2025
NM_080424.4(SP110):c.1359_1360del (p.Lys453_Ser454insTer)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 453
NM_080424.4(SP110):c.708del (p.Asp237fs)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 237
NM_080424.4(SP110):c.1493_1494insCAAC (p.Pro499fs)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 499
NM_080424.4(SP110):c.699del (p.Asp234fs)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 234
NM_080424.4(SP110):c.1447+1G>ALikely pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2024
NM_080424.4(SP110):c.1103_1109del (p.Pro368fs)Pathogenic
Hepatic veno-occlusive disease-immunodeficiency syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 368
View on ClinVar β†—
Related Genes
OAS2Protein interaction100%OAS1Protein interaction99%STAT1Protein interaction96%IFIT3Protein interaction94%IFI35Protein interaction90%XAF1Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
37%
Lung
36%
Ovary
26%
Liver
20%
Brain
13%
Gene Interaction Network
Click a node to explore
SP110OAS2OAS1STAT1IFIT3IFI35XAF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HB58
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.47–0.83]
RankingsWhere SP110 stands among ~20K protein-coding genes
  • #6,432of 20,598
    Most Researched74
  • #1,516of 5,498
    Most Pathogenic Variants41
  • #7,024of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedSP110
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Transcriptional regulators
PMID: 39162523
Microbiol Spectr Β· 2024
1.00
2
SP110 gene polymorphisms and tuberculosis susceptibility: a systematic review and meta-analysis based on 10 624 subjects.
PMID: 22691368
Infect Genet Evol Β· 2012
0.90
3
Certain Polymorphisms in SP110 Gene Confer Susceptibility to Tuberculosis: A Comprehensive Review and Updated Meta-Analysis.
PMID: 27873510
Yonsei Med J Β· 2017
0.80
4
Polymorphisms in SP110 are not associated with pulmonary tuberculosis in Indonesians.
PMID: 22522001
Infect Genet Evol Β· 2012
0.70
5
Identification of genetic associations of SP110/MYBBP1A/RELA with pulmonary tuberculosis in the Chinese Han population.
PMID: 23129390
Hum Genet Β· 2013
0.60