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SP110 Gene

protein-coding   GIFtS: 59
GCID: GC02M230997

SP110 Nuclear Body Protein

(Previous names: interferon-induced protein 41, 30kD)
(Previous symbols: IFI41, IFI75)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SP110 Nuclear Body Protein1 2     Transcriptional Coactivator Sp1102 3
IFI411 2 5     VODI2 5
IFI751 2 5     IPR12
Interferon-Induced Protein 41, 30kD1 2     Interferon-Induced Protein 75, 52kD2
Interferon-Induced Protein 41/752 3     Phosphoprotein 412
Speckled 110 KDa2 3     Phosphoprotein 752

External Ids:    HGNC: 54011   Entrez Gene: 34312   Ensembl: ENSG000001358997   OMIM: 6044575   UniProtKB: Q9HB583   

Export aliases for SP110 gene to outside databases

Previous GC identifers: GC02M229093 GC02M229765 GC02M231236 GC02M230859 GC02M230741 GC02M222874


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 veno-occlusive disease with immunodeficiency, and charcot-marie-tooth neuropathy type 1e. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is SP100.

UniProtKB/Swiss-Prot: SP110_HUMAN, Q9HB58
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SP110 gene promoter:
         Nkx2-5   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSP110 promoter sequence
   Search Chromatin IP Primers for SP110

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SP110


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

SP110 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SP110 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M230997:  view genomic region     (about GC identifiers)

Start:
231,032,009 bp from pter      End:
231,090,444 bp from pter
Size:
58,436 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SP110_HUMAN, Q9HB58 (See protein sequence)
Recommended Name: Sp110 nuclear body protein  
Size: 689 amino acids; 78396 Da
Subunit: Isoform 3 interacts with HCV core protein
Sequence caution: Sequence=AAF99318.1; Type=Frameshift; Positions=Several; Sequence=AAG09826.1; Type=Frameshift;
Positions=141, 143; Sequence=AK026488; Type=Frameshift; Positions=296, 542, 567;
Secondary accessions: B4DVI4 F5H1M1 Q14976 Q14977 Q53TG2 Q8WUZ6 Q9HCT8
Alternative splicing: 7 isoforms:  Q9HB58-1   Q9HB58-2   Q9HB58-3   Q9HB58-4   Q9HB58-5   Q9HB58-6   Q9HB58-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SP110: NX_Q9HB58

Explore proteomics data for SP110 at MOPED

Post-translational modifications: 

  • Phosphorylated (isoform 2)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SP110 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001171944.1  NP_004500.3  NP_004501.3  NP_536349.2  

    ENSEMBL proteins: 
     ENSP00000258381   ENSP00000351488   ENSP00000375902   ENSP00000258382   ENSP00000387172  
     ENSP00000393992   ENSP00000399978   ENSP00000439558   ENSP00000344049  

    SP110 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

    SP110 Antibody Products:

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    SP110 Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001965 Znf_PHD
     IPR001487 Bromodomain
     IPR010919 SAND_dom-like
     IPR004865 Sp100

    Graphical View of Domain Structure for InterPro Entry Q9HB58

    ProtoNet protein and cluster: Q9HB58

    4 Blocks protein domains:
    IPB000770 SAND domain
    IPB001965 Zn-finger-like
    IPB004865 Sp100 domain
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: SP110_HUMAN, Q9HB58
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 HSR domain
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 SAND domain


    SP110 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SP110_HUMAN, Q9HB58
    Function: Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes
    with retinoic acid response elements (RARE)
    Induction: By IFNG/IFN-gamma and all-trans retinoic acid (ATRA)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004871signal transducer activity TAS7693701
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    SP110 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SP110:
     Decreased Tat-dependent transc  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SP110
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SP110

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SP110
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SP110

    miRNA
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    miRTarBase miRNAs that target SP110:
    hsa-mir-375 (MIRT019722)

    Block miRNA regulation of human, mouse, rat SP110 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SP110
    SwitchGear 3'UTR luciferase reporter plasmidSP110 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SP110

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    GenScript: all cDNA clones in your preferred vector (see all 4): SP110 (NM_080424)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SP110

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP110


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SP110_HUMAN, Q9HB58: Nucleus. Note=Found in the nuclear body
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--

    SP110 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including SP110: 
              Interferons & Receptors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SP110

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for SP110 (Q9HB582, 3 ENSP000002583814) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFV2P194042, 3, ENSP000003272684MINT-63536 I2D: score=5 STRING: ENSP00000327268
    SMN1Q166372, 3MINT-8271542 I2D: score=2 
    SMN2Q166372, 3MINT-8271542 I2D: score=2 
    ANXA7P200732, 3MINT-8248735 I2D: score=2 
    CDKN1AP389362, 3MINT-8252246 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0007165signal transduction TAS7693701
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----

    SP110 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SP110



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SP110 gene (4 alternative transcripts): 
    NM_001185015.1  NM_004509.3  NM_004510.3  NM_080424.2  

    Unigene Cluster for SP110:

    SP110 nuclear body protein
    Hs.145150  [show with all ESTs]
    Unigene Representative Sequence: AK128274
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477068 ENST00000480916 ENST00000258381(uc002vqg.3 uc002vqh.3)
    ENST00000483067 ENST00000358662 ENST00000463022 ENST00000392048(uc010fxj.3)
    ENST00000258382(uc002vqi.4 uc010fxk.3) ENST00000489597 ENST00000490880
    ENST00000486146 ENST00000409815 ENST00000455674 ENST00000462232 ENST00000416610
    ENST00000540870(uc021vxx.1) ENST00000338556
    miRNA
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    Block miRNA regulation of human, mouse, rat SP110 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SP110
    SwitchGear 3'UTR luciferase reporter plasmidSP110 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SP110
    Predesigned siRNA for gene silencing in human, mouse, rat SP110
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SP110 (NM_080424)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SP110
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SP110
    Primer
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    OriGene qPCR primer pairs and template standards for SP110
    OriGene qSTAR qPCR primer pairs in human, mouse for SP110
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SP110
      QuantiTect SYBR Green Assays in human, mouse, rat SP110
      QuantiFast Probe-based Assays in human, mouse, rat SP110

    Additional mRNA sequence: 

    AF280094.1 AF280095.1 AK026488.1 AK128274.1 AK301097.1 AL832300.1 BC012447.2 BC019059.2 
    L22343.1 

    18 DOTS entries:

    DT.97844819  DT.100784503  DT.315250  DT.100784505  DT.87016829  DT.315249  DT.120949401  DT.97787522 
    DT.120949492  DT.92423845  DT.120949304  DT.87008738  DT.91704797  DT.100704880  DT.120949368  DT.120949382 
    DT.121015844  DT.40295425 

    Selected AceView cDNA sequences (see all 174):

    AA907317 AW137571 AA252779 AA443705 AI168372 AW469400 AA744811 AI807423 
    AA504832 AL557996 AI077443 CR625933 AA780399 AI540791 AA926890 AA831048 
    BU174698 AA074714 AW204185 CB529938 BF223153 BV203116 BI261462 BI909528 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SP110 (see all 7)    About this scheme

    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:              -     -                                                                                                                                       

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


    ECgene alternative splicing isoforms for SP110

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SP110 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SP110 Expression
    About this image


    SP110 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SP110 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SP110 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.145150

    UniProtKB/Swiss-Prot: SP110_HUMAN, Q9HB58
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including SP110: 
              Interferons & Receptors in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for SP110
    OriGene qSTAR qPCR primer pairs in human, mouse for SP110
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SP110
    QuantiTect SYBR Green Assays in human, mouse, rat SP110
    QuantiFast Probe-based Assays in human, mouse, rat SP110
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP110

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SP110 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sp1105
    LOC6775251
    Sp110 nuclear body protein5
    sp110 nuclear body protein-like1
    71.7(n)1
    55.1(a)1
      1 (43.60 cM)5
    6775251  XM_006535876.11  XP_006535939.11 
     855768995 
    zebrafish
    (Danio rerio)
    Actinopterygii BX569789.26
    zgc:1134116
    (see all 3)
    zgc:113411
    (see all 3)
    33(a)
    21(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3(24837780-24845598) ENSDARG00000055359
    3(24932187-24941134) ENSDARG00000038133


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SP110 gene
    SP1002  SP1402  SP140L2  
    10 SIMAP similar genes for SP110 using alignment to 12 protein entries:     SP110_HUMAN (see all proteins):
    TRIM66    CHD4    CHD5    TRIM33    SP140L    AIRE
    SP100    SP140    DKFZp686E07254    FLJ00340

    SP110 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SP110 (see all 1586)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360304
    A breast cancer sample4--see VAR_0360302 G S mis40--------
    VAR_0360294
    A breast cancer sample4--see VAR_0360292 M T mis40--------
    rs39484641,2,,4
    C,F,A,Hother1230420956(-) CAGATC/TGAAAG 6 S L mis149Minor allele frequency- T:0.14NS EA CSA NA WA EU 12118
    rs356347931,2
    C--222884399(+) GGTGA-/CTCTGGA 4 -- int11Minor allele frequency- CT:0.00CSA 2
    rs769014231,2
    F--222895255(-) CAGAAT/AGGGAG 4 -- int11Minor allele frequency- A:0.50NA 4
    rs776939351,2
    C--222895283(-) AAACTT/ATCATC 4 -- int11Minor allele frequency- A:0.00NA 2
    rs783696291,2
    C--222895292(-) GCAAAA/GGAAAC 4 -- int12Minor allele frequency- G:0.00NA 4
    rs361269401,2
    C--222895497(+) TATAAA/GGTGTA 4 -- int12Minor allele frequency- G:0.25NA 4
    rs58393641,2
    C,F--222923662(+) TGAATA/-ATACG 4 -- int13Minor allele frequency- -:0.50NA CSA 6
    rs1886720281,2
    --230403387(+) ATTTTA/GCAACC 2 -- int10--------

    HapMap Linkage Disequilibrium report for SP110 (231032009 - 231090444 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SP110:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv29172CNV Loss19812545

    Human Gene Mutation Database (HGMD): SP110
    Locus Specific Mutation Databases (LSDB): SP110

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604457   
    OMIM disorders: 235550  607948  
    UniProtKB/Swiss-Prot: SP110_HUMAN, Q9HB58
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SP110 (see all 28):    
    About MalaCards
    hepatic veno-occlusive disease with immunodeficiency    charcot-marie-tooth neuropathy type 1e    lymph node tuberculosis    charcot-marie-tooth neuropathy type 1a
    charcot-marie-tooth neuropathy type 1    extrapulmonary tuberculosis    hereditary neuropathy with liability to pressure palsy    pulmonary tuberculosis
    hereditary neuropathy with liability to pressure palsies    tuberculosis    hereditary neuropathies    neuropathy
    chronic lymphocytic leukemia    hepatitis    hepatitis c virus    breast and colorectal cancer
    hepatitis c    tonsillitis    hiv-1    obesity

    1 disease from the University of Copenhagen DISEASES database for SP110:
    Tuberculosis

    SP110 for disorders           About GeneDecksing

    GeneTests: SP110
    GeneReviews: SP110
    Genetic Association Database (GAD): SP110
    Human Genome Epidemiology (HuGE) Navigator: SP110 (28 documents)

    Export disorders for SP110 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SP110 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with SP110)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. No associations of human pulmonary tuberculosis with Sp110 variants. (PubMed id 16816019)1, 2, 4 Thye T....Meyer C.G. (J. Med. Genet. 2006)
    2. Molecular cloning of two new interferon-induced, highly related nuclear phosphoproteins. (PubMed id 7693701)1, 2, 3 Kadereit S.... Meurs E.F. (J. Biol. Chem. 1993)
    3. Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. (PubMed id 10913195)1, 2, 9 Bloch D.B.... Bloch K.D. (Mol. Cell. Biol. 2000)
    4. Degree of predicted minor histocompatibility antigen mismatch correlates with poorer clinical outcomes in nonmyeloablative allogeneic hematopoietic cell transplantation. (PubMed id 20353833)1, 4 Larsen M.E....Vindelov L. (Biol. Blood Marrow Transplant. 2010)
    5. Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus. (PubMed id 20331378)1, 4 Mosbruger T.L....Thio C.L. (J. Infect. Dis. 2010)
    6. Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. (PubMed id 20196868)1, 4 Motsinger-Reif A.A....Sterling T.R. (BMC Med. Genet. 2010)
    7. Genetic susceptibility variants for chronic lymphocytic leukemia. (PubMed id 20332261)1, 4 Slager S.L....Cerhan J.R. (amp 2010)
    8. A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. (PubMed id 18758461)1, 4 Di Bernardo M.C....Houlston R.S. (Nat. Genet. 2008)
    9. SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population. (PubMed id 17287948)1, 4 Babb C....Hoal E.G. (Hum. Genet. 2007)
    10. Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis. (PubMed id 17149599)1, 4 Szeszko J.S....Nejentsev S. (Hum. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3431 HGNC: 5401 AceView: SP110 Ensembl:ENSG00000135899 euGenes: HUgn3431
    ECgene: SP110 H-InvDB: SP110

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SP110 Pharmacogenomics, SNPs, Pathways
    SP110basehttp://bioinf.uta.fi/SP110base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/281386/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SP110 gene:
    Search GeneIP for patents involving SP110

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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