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 ... See more...

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
  • Sp110 Nuclear Body Protein 3 4
  • Speckled 110 KDa 3 4
  • Interferon-Induced Protein 75, 52kD 3
  • Phosphoprotein 41 3
  • Phosphoprotein 75 3
  • IFI41 3
  • IFI75 3
  • SP110 5
  • 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 Hepatic Veno-Occlusive Disease. Gene Ontology (GO) annotations related to this gene include chromatin binding and obsolete signal transducer activity. An important paralog of this gene is SP140.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SP110 Gene

Genomics for SP110 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SP110 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J230218 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.4 +6.2 6195 2.7 PRDM10 RCOR2 POLR2A ZNF7 LARP7 GABPA ZNF143 RBFOX2 SMAD5 IRF2 SP110 SP140 lnc-SLC16A14-4
GH02J230222 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.1 112 6.1 CREB1 ATF7 POLR2A BACH1 STAT3 RELA SMAD5 IKZF2 RCOR1 TRIM22 SP140 SP110 RNU6-451P ENSG00000225963 FBXO36 lnc-SLC16A14-4
GH02J230588 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.9 -366.1 -366104 6.7 SP1 POLR2A BACH1 JUND ZNF143 RELA SMAD5 RAD21 TCF12 IKZF2 SP110 ENSG00000225963 TPM3P8 LOC112268431 lnc-SP100-2 CAB39 SP100
GH02J230170 Enhancer 0.9 Ensembl ENCODE 9.7 +55.4 55364 1.1 CEBPG JUND HDAC1 SOX6 CEBPA CEBPB HES1 NR2C2 GABPA NR2F2 SP110 lnc-SP110-2 SP140 ENSG00000283451 ENSG00000225963 SLC16A14
GH02J229980 Enhancer 0.8 Ensembl ENCODE 9.8 +244.9 244928 1.6 REST JUND RELA ZIC2 IKZF2 RELB FOSL1 IKZF1 ATF4 ATF3 SLC16A14 ENSG00000225963 SP110 RNU6-451P RNU6-1027P RF00026-619 RF00017-3447 FBXO36 TRIP12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SP110 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SP110

Top Transcription factor binding sites by QIAGEN in the SP110 gene promoter:
  • Nkx2-5
  • STAT5A

Genomic Locations for SP110 Gene

Genomic Locations for SP110 Gene
chr2:230,165,186-230,225,729
(GRCh38/hg38)
Size:
60,544 bases
Orientation:
Minus strand
chr2:231,032,009-231,090,444
(GRCh37/hg19)
Size:
58,436 bases
Orientation:
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:
    Q9HB58-SP110_HUMAN
    Recommended name:
    Sp110 nuclear body protein
    Protein Accession:
    Q9HB58
    Secondary Accessions:
    • B4DVI4
    • F5H1M1
    • Q14976
    • Q14977
    • Q53TG2
    • Q8WUZ6
    • Q9HCT8

    Protein attributes for SP110 Gene

    Size:
    689 amino acids
    Molecular mass:
    78396 Da
    Quaternary structure:
    • (Microbial infection) Isoform 3 interacts with HCV core protein.
    SequenceCaution:
    • Sequence=AAF99318.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAG09826.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AK026488; Type=Frameshift; 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

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

Protein Domains for SP110 Gene

InterPro:
Blocks:
  • Zn-finger-like, PHD finger
  • SAND domain
  • SAND-like
  • Sp100 domain
ProtoNet:

Suggested Antigen Peptide Sequences for SP110 Gene

GenScript: Design optimal peptide antigens:
  • SP110 (Q2I9L9_HUMAN)
  • SP110 (Q2I9M0_HUMAN)
  • SP110 (Q2I9M1_HUMAN)
  • SP110 (Q2I9M2_HUMAN)
  • SP110 (Q2I9M3_HUMAN)
genes like me logo Genes that share domains with SP110: view

No data available for Graphical View of Domain Structure and 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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding TAS,IEA --
GO:0005515 protein binding IEA --
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

CRISPR Products

miRNA for SP110 Gene

miRTarBase miRNAs that target SP110

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SP110

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

COMPARTMENTS
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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

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 IEA,TAS 7693701
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with SP110: view

Pathways & Interactions for SP110 Gene

PathCards logo

SuperPathways for SP110 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SP110 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II 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

mRNA/cDNA for SP110 Gene

10 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SP110

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: - - - -
SP3:
SP4: -
SP5: - -
SP6: - - -
SP7:

ExUns: 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SP110 Gene

GeneLoc Exon Structure for
SP110

Expression for SP110 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SP110 Gene



Protein tissue co-expression partners for SP110 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SP110

SOURCE GeneReport for Unigene cluster for SP110 Gene:

Hs.145150

mRNA Expression by UniProt/SwissProt for SP110 Gene:

Q9HB58-SP110_HUMAN
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

  • Spleen(4.5)
  • Blood(4.5)
  • Intestine(4.4)
  • Liver(4.4)
  • Lymph node(2.2)
  • Lung(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • liver
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia SP110 30
  • 98.7 (n)
Dog
(Canis familiaris)
Mammalia SP110 30 31
  • 76.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SP110 30 31
  • 75.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia LOC677525 30
  • 71.7 (n)
AC125149.3 31
  • 62 (a)
OneToMany
AC133103.5 31
  • 62 (a)
OneToMany
AC132444.3 31
  • 61 (a)
OneToMany
AC125149.4 31
  • 61 (a)
OneToMany
AC133103.4 31
  • 61 (a)
OneToMany
AC168977.1 31
  • 48 (a)
OneToMany
Sp110 17 31
  • 45 (a)
OneToMany
Gm15753 17
Gm16026 17
Rat
(Rattus norvegicus)
Mammalia Sp110 30
  • 64.16 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SP110 31
  • 25 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 18 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii BX569789.2 31
  • 33 (a)
ManyToMany
zgc:113411 31
  • 21 (a)
ManyToMany
BX569789.4 31
  • 21 (a)
ManyToMany
Species where no ortholog for SP110 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for SP110 (if available)
TreeFam:
Gene Tree for SP110 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SP110: view image

Paralogs for SP110 Gene

(10) SIMAP similar genes for SP110 Gene using alignment to 12 proteins:

  • SP110_HUMAN
  • C9JZQ4_HUMAN
  • E7EM70_HUMAN
  • E7ER70_HUMAN
  • E9PHK4_HUMAN
  • G5E9C0_HUMAN
  • Q2I9L9_HUMAN
  • Q2I9M0_HUMAN
  • Q2I9M1_HUMAN
  • Q2I9M2_HUMAN
  • Q2I9M3_HUMAN
  • Q6PJR6_HUMAN
genes like me logo Genes that share paralogs with SP110: view

Variants for SP110 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SP110 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
641367 Uncertain Significance: Hepatic veno-occlusive disease-immunodeficiency syndrome 230,178,255(-) C/T MISSENSE_VARIANT
641393 Uncertain Significance: Hepatic veno-occlusive disease-immunodeficiency syndrome 230,212,396(-) C/T SYNONYMOUS_VARIANT
647053 Uncertain Significance: Hepatic veno-occlusive disease-immunodeficiency syndrome 230,177,581(-) C/T MISSENSE_VARIANT
647440 Uncertain Significance: Hepatic veno-occlusive disease-immunodeficiency syndrome 230,183,605(-) T/C MISSENSE_VARIANT
649099 Uncertain Significance: Hepatic veno-occlusive disease-immunodeficiency syndrome 230,212,800(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SP110 Gene

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

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

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)

Additional Variant Information for SP110 Gene

Human Gene Mutation Database (HGMD)
SP110
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SP110

SNP Genotyping and Copy Number Assay Products

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

Disorders for SP110 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SP110 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SP110 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SP110_HUMAN
  • 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.

Additional Disease Information for SP110

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 41
  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 23
  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
  4. 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 41
  5. 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 41

Products for SP110 Gene

Sources for SP110 Gene