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Aliases for SP110 Gene

Aliases for SP110 Gene

  • SP110 Nuclear Body Protein 2 3 5
  • Interferon-Induced Protein 41, 30kD 2 3
  • Transcriptional Coactivator Sp110 3 4
  • Interferon-Induced Protein 41/75 3 4
  • Speckled 110 KDa 3 4
  • Interferon-Induced Protein 75, 52kD 3
  • Phosphoprotein 41 3
  • Phosphoprotein 75 3
  • IFI41 3
  • IFI75 3
  • IPR1 3
  • VODI 3

External Ids for SP110 Gene

Previous HGNC Symbols for SP110 Gene

  • IFI41
  • IFI75

Previous GeneCards Identifiers for SP110 Gene

  • GC02M229093
  • GC02M229765
  • GC02M230997
  • GC02M231236
  • GC02M230859
  • GC02M230741
  • GC02M222874

Summaries for SP110 Gene

Entrez Gene Summary for SP110 Gene

  • 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]

GeneCards Summary for SP110 Gene

SP110 (SP110 Nuclear Body Protein) is a Protein Coding gene. Diseases associated with SP110 include Hepatic Venoocclusive Disease With Immunodeficiency and Lymph Node Tuberculosis. GO annotations related to this gene include chromatin binding and signal transducer activity. An important paralog of this gene is SP140.

UniProtKB/Swiss-Prot for SP110 Gene

  • Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).

Gene Wiki entry for SP110 Gene

Additional gene information for SP110 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SP110 Gene

Genomics for SP110 Gene

Regulatory Elements for SP110 Gene

Enhancers for SP110 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H230588 1.1 ENCODE dbSUPER 10.9 -363.8 -363806 2.1 PKNOX1 TBL1XR1 RB1 BMI1 BATF RAD21 ZNF143 ZNF207 ATF7 ETV6 SP110 ENSG00000225963 TPM3P8 GC02P230588 LINC01907
GH02H230456 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7 -231.9 -231938 1.5 POLR2A MAX RUNX3 MYC SPI1 SP140L SP100 SP110 HTR2B SP140 CAB39 GC02M230465
GH02H230355 0.9 dbSUPER 10.7 -135.0 -134998 10.8 ELF3 FOXA2 ZNF133 RAD21 YY1 CREM MIXL1 THAP11 PPARG NFIL3 SP110 ENSG00000225963 RNU6-451P SP140L LOC105373925
GH02H229980 0.9 Ensembl ENCODE 9.8 +245.0 245006 1.4 JUN REST EBF1 E2F4 ZBTB40 ZIC2 RELA FOSL1 IKZF1 IKZF2 SLC16A14 ENSG00000225963 SP110 RNU6-451P RNU6-1027P GC02M230023
GH02H230134 0.8 Ensembl ENCODE 11 +91.1 91098 1.1 JUND ZNF792 JUN ETV1 ZNF143 TRIM24 SETDB1 SP110 SLC16A14 ENSG00000283451 ENSG00000225963
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SP110 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SP110 gene promoter:

Genomic Locations for SP110 Gene

Genomic Locations for SP110 Gene
58,437 bases
Minus strand

Genomic View for SP110 Gene

Genes around SP110 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SP110 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SP110 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP110 Gene

Proteins for SP110 Gene

  • Protein details for SP110 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sp110 nuclear body protein
    Protein Accession:
    Secondary Accessions:
    • B4DVI4
    • F5H1M1
    • Q14976
    • Q14977
    • Q53TG2
    • Q8WUZ6
    • Q9HCT8

    Protein attributes for SP110 Gene

    689 amino acids
    Molecular mass:
    78396 Da
    Quaternary structure:
    • Isoform 3 interacts with HCV core protein.
    • Sequence=AAF99318.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAG09826.1; Type=Frameshift; Positions=141, 143; Evidence={ECO:0000305}; Sequence=AK026488; Type=Frameshift; Positions=296, 542, 567; Evidence={ECO:0000305};

    Alternative splice isoforms for SP110 Gene

neXtProt entry for SP110 Gene

Post-translational modifications for SP110 Gene

No data available for DME Specific Peptides for SP110 Gene

Domains & Families for SP110 Gene

Gene Families for SP110 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for SP110 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SP110: view

No data available for UniProtKB/Swiss-Prot for SP110 Gene

Function for SP110 Gene

Molecular function for SP110 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).
UniProtKB/Swiss-Prot Induction:
By IFNG/IFN-gamma and all-trans retinoic acid (ATRA).

Phenotypes From GWAS Catalog for SP110 Gene

Gene Ontology (GO) - Molecular Function for SP110 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004871 signal transducer activity TAS 7693701
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SP110: view
genes like me logo Genes that share phenotypes with SP110: view

Human Phenotype Ontology for SP110 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SP110 Gene

Localization for SP110 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SP110 Gene

Nucleus. Note=Found in the nuclear body.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SP110 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SP110 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA --
genes like me logo Genes that share ontologies with SP110: view

Pathways & Interactions for SP110 Gene

SuperPathways for SP110 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SP110 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007165 signal transduction IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with SP110: view

No data available for Pathways by source and SIGNOR curated interactions for SP110 Gene

Drugs & Compounds for SP110 Gene

No Compound Related Data Available

Transcripts for SP110 Gene

Unigene Clusters for SP110 Gene

SP110 nuclear body protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SP110 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a ·
SP1: - - -
SP2: - - - -
SP4: -
SP5: - -
SP6: - - -

ExUns: 20b

Relevant External Links for SP110 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SP110 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SP110 Gene

mRNA differential expression in normal tissues according to GTEx for SP110 Gene

This gene is overexpressed in Whole Blood (x10.7).

Protein differential expression in normal tissues from HIPED for SP110 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.5), Blymphocyte (14.0), and CD8 Tcells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SP110 Gene

Protein tissue co-expression partners for SP110 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SP110 Gene:


SOURCE GeneReport for Unigene cluster for SP110 Gene:


mRNA Expression by UniProt/SwissProt for SP110 Gene:

Tissue specificity: Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for SP110 Gene

  • Blood(4.4)
  • Spleen(4.4)
  • Intestine(4.3)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SP110 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • skeleton
Head and neck:
  • brain
  • ear
  • head
  • skull
  • heart
  • heart valve
  • liver
  • blood
  • bone marrow
  • lymph node
  • white blood cell
genes like me logo Genes that share expression patterns with SP110: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SP110 Gene

Orthologs for SP110 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SP110 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SP110 33
  • 98.7 (n)
(Canis familiaris)
Mammalia SP110 34 33
  • 76.84 (n)
(Bos Taurus)
Mammalia SP110 34 33
  • 75.1 (n)
(Mus musculus)
Mammalia LOC677525 33
  • 71.7 (n)
AC125149.3 34
  • 62 (a)
AC133103.5 34
  • 62 (a)
AC125149.4 34
  • 61 (a)
AC132444.3 34
  • 61 (a)
AC133103.4 34
  • 61 (a)
AC168977.1 34
  • 48 (a)
Sp110 34 16
  • 45 (a)
(Rattus norvegicus)
Mammalia Sp110 33
  • 64.16 (n)
(Ornithorhynchus anatinus)
Mammalia SP110 34
  • 25 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 18 (a)
(Danio rerio)
Actinopterygii BX569789.2 34
  • 33 (a)
BX569789.4 34
  • 21 (a)
zgc:113411 34
  • 21 (a)
Species where no ortholog for SP110 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SP110 Gene

Gene Tree for SP110 (if available)
Gene Tree for SP110 (if available)

Paralogs for SP110 Gene

Paralogs for SP110 Gene

genes like me logo Genes that share paralogs with SP110: view

Variants for SP110 Gene

Sequence variations from dbSNP and Humsavar for SP110 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs200067258 A breast cancer sample 230,216,905(+) CTTCC(A/G)TGGCT intron-variant, reference, missense
VAR_036030 A breast cancer sample
rs397515361 Pathogenic 230,212,372(-) ATGCC(-/C)AGCCT intron-variant, reference, frameshift-variant
rs397515362 Pathogenic 230,216,888(-) TTTTT(-/C)AGCAC intron-variant, reference, frameshift-variant
rs397515569 Pathogenic 230,213,018(-) TGCTT(-/GGTGCTT)CCTAT intron-variant, reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SP110 Gene

Variant ID Type Subtype PubMed ID
nsv998291 CNV gain 25217958
nsv584666 CNV gain 21841781
nsv477132 CNV novel sequence insertion 20440878
nsv472607 CNV novel sequence insertion 20440878
esv3594596 CNV loss 21293372
esv29172 CNV loss 19812545

Variation tolerance for SP110 Gene

Residual Variation Intolerance Score: 92.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.13; 80.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SP110 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SP110 Gene

Disorders for SP110 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SP110 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hepatic venoocclusive disease with immunodeficiency
  • hepatic veno-occlusive disease with immunodeficiency
lymph node tuberculosis
  • king's evil
hepatic veno-occlusive disease
  • veno-occlusive disease
extrapulmonary tuberculosis
  • eptb
hepatic vascular disease
  • vascular disorder of liver
- elite association - COSMIC cancer census association via MalaCards
Search SP110 in MalaCards View complete list of genes associated with diseases


  • Hepatic venoocclusive disease with immunodeficiency (VODI) [MIM:235550]: Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. {ECO:0000269 PubMed:16648851}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SP110

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SP110: view

No data available for Genatlas for SP110 Gene

Publications for SP110 Gene

  1. No associations of human pulmonary tuberculosis with Sp110 variants. (PMID: 16816019) Thye T … Meyer CG (Journal of medical genetics 2006) 3 4 45 60
  2. Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. (PMID: 10913195) Bloch DB … Bloch KD (Molecular and cellular biology 2000) 3 4 22 60
  3. Molecular cloning of two new interferon-induced, highly related nuclear phosphoproteins. (PMID: 7693701) Kadereit S … Meurs EF (The Journal of biological chemistry 1993) 2 3 4 60
  4. Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. (PMID: 20196868) Motsinger-Reif AA … Sterling TR (BMC medical genetics 2010) 3 45 60
  5. Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus. (PMID: 20331378) Mosbruger TL … Thio CL (The Journal of infectious diseases 2010) 3 45 60

Products for SP110 Gene

Sources for SP110 Gene

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