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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPIDR Gene

protein-coding   GIFtS: 31
GCID: GC08P048174

Scaffolding Protein Involved In DNA Repair

(Previous name: KIAA0146)
(Previous symbol: KIAA0146)
  Search for SPIDR
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Scaffolding Protein Involved In DNA Repair1 2
KIAA01461 2
Uncharacterized Protein KIAA01462

External Ids:    HGNC: 289711   Entrez Gene: 235142   Ensembl: ENSG000001648087   OMIM: 6153845   UniProtKB: Q141593   

Export aliases for SPIDR gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SPIDR Gene: 
SPIDR (scaffolding protein involved in DNA repair) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SPIDR
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SPIDR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPIDR


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

Entrez Gene cytogenetic band: 8q11.21   Ensembl cytogenetic band:  8q11.21   HGNC cytogenetic band: 8q11.21

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P048174:  view genomic region     (about GC identifiers)

Start:
48,173,167 bp from pter      End:
48,648,868 bp from pter
Size:
475,702 bases      Orientation:
plus strand

1 alternative location:
Chr8-,NT_113909 12,494-30,258     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: K0146_HUMAN, Q14159 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0146  
Size: 915 amino acids; 100316 Da
Sequence caution: Sequence=BAA09767.1; Type=Erroneous initiation;
Secondary accessions: Q96BI5

Explore the universe of human proteins at neXtProt for SPIDR: NX_Q14159

Explore proteomics data for SPIDR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14159

  • SPIDR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPIDR Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001073863.1  NP_001269845.1  NP_001269848.1  

    ENSEMBL proteins: 
     ENSP00000297423   ENSP00000428222   ENSP00000429487   ENSP00000430965   ENSP00000430941  
     ENSP00000430664   ENSP00000428287   ENSP00000429997   ENSP00000429805   ENSP00000430091  
     ENSP00000429193   ENSP00000427889   ENSP00000427878   ENSP00000429448   ENSP00000444061  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome IDA--

    SPIDR for ontologies           About GeneDecksing



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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)
    About This Section

    ProtoNet protein and cluster: Q14159


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K0146_HUMAN, Q14159
    Induction: Up-regulated in vascular endothelial cells treated with IL4. Up-regulated upon human SARS coronavirus
    infection

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    SPIDR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPIDR:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPIDR 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPIDR

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IMP--
    GO:0006974response to DNA damage stimulus IDA--
    GO:0010569regulation of double-strand break repair via homologous recombination IDA--
    GO:0031334positive regulation of protein complex assembly IDA--
    GO:0070202regulation of establishment of protein localization to chromosome IDA--

    SPIDR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPIDR (K0146)

    Search CenterWatch for drugs/clinical trials and news about SPIDR / K0146

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPIDR gene (3 alternative transcripts): 
    NM_001080394.3  NM_001282916.1  NM_001282919.1  

    18/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000297423(uc011lcz.2 uc011lda.2 uc003xqd.3 uc011ldc.2 uc011ldd.2 uc003xqe.3 uc010lxt.3 uc011ldf.2)
    ENST00000523814 ENST00000518074 ENST00000522900 ENST00000517824 ENST00000521550
    ENST00000524126 ENST00000522222 ENST00000519661 ENST00000524141(uc011ldb.2 uc010lxs.3 uc011lde.1)
    ENST00000524033 ENST00000522117 ENST00000524006 ENST00000521214(uc003xqf.3)
    ENST00000521798 ENST00000521918 ENST00000524157 ENST00000519401
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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                         Customized lentivirus expression plasmids for stable overexpression of SPIDR 
    Primer
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    24/774 AceView cDNA sequences (see all 774):

    AW044492 AI761857 AA614375 AI343685 BQ773696 BF222751 AW302151 AI348331 
    BM545427 BF438231 BX475988 AI302178 CB050779 BE221985 AW236578 AI741112 
    AI247432 AW089193 BF477569 BE673176 AI566792 AU124554 BM688483 AW197672 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPIDR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPIDR Expression
    About this image


    See SPIDR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPIDR
        SABiosciences Custom PCR Arrays for SPIDR
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SPIDR
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPIDR

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SPIDR gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2310008H04Rik1 , 5 RIKEN cDNA 2310008H04 gene1, 5 75.54(n)1
    66.15(a)1
      16 (10.09 cM)5
    2240081  NM_146068.31  NP_666180.21 
     158892275 
    chicken
    (Gallus gallus)
    Aves KIAA01461 KIAA0146 61.06(n)
    55.16(a)
      421107  XM_419190.3  XP_419190.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA01466
    KIAA0146
    42(a)
    1 ↔ 1
    GL343207.1(1684082-1892684)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005350451 uncharacterized protein KIAA0146-like 48.03(n)
    37.88(a)
      100535045  XM_003201338.1  XP_003201386.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7435 SNPs in SPIDR are shown (see all 7435)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs680186261,2
    C--43869109(+) CATTGGA/-GAGAG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1854656531,2
    --48171886(+) CTGTGG/TTGTCT 1 -- us2k10--------
    rs772246281,2
    C,F--48171952(+) GACATG/AGGTTA 1 -- us2k12Minor allele frequency- A:0.04WA EA 238
    rs1156264131,2
    C,F--48172112(+) CTGAGA/GTGGCG 1 -- us2k11Minor allele frequency- G:0.07WA 118
    rs795000541,2
    --48172359(+) CAACTA/CGATTG 1 -- us2k10--------
    rs78414671,2
    C--48172406(+) ATGGCA/TCTAGC 1 -- us2k14Minor allele frequency- T:0.05CSA WA EA 241
    rs1898339181,2
    --48172436(+) AAAGAC/TGGTTT 1 -- us2k10--------
    rs1825252841,2
    --48172467(+) CTGCAC/GAGTGG 1 -- us2k10--------
    rs1477556351,2
    C--48172493(+) CAAGTA/GTCTGC 1 -- us2k10--------
    rs1891300291,2
    --48172739(+) CTCCAC/TGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPIDR (48173167 - 48423167 bp, first 250kb of SPIDR)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SPIDR: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPIDR
    DNA2.0 Custom Variant and Variant Library Synthesis for SPIDR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SPIDR for disorders           About MalaCards
    OMIM gene information: 615384    OMIM disorders: --


    SPIDR for disorders           About GeneDecksing


    Export disorders for SPIDR 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)
    About This Section

    PubMed articles for SPIDR gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with SPIDR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8590280)1, 2, 3 Nagase T....Nomura N. (1995)
    2. Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (PubMed id 23509288)1, 3 Wan L....Huang J. (2013)
    3. Comparative host gene transcription by microarray analysis early after infection of the Huh7 cell line by severe acute respiratory syndrome coronavirus and human coronavirus 229E. (PubMed id 15858003)1, 2 Tang B.S.F....Yuen K.-Y. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Gene expression profile in interleukin-4-stimulated human vascular endothelial cells. (PubMed id 15502879)1, 2 Lee Y.W.... Toborek M. (2004)
    6. Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cance r. (PubMed id 23603433)1 Brueckner L.M....Savelyeva L. (2013)
    7. FIGNL1-containing protein complex is required for effi cient homologous recombination repair. (PubMed id 23754376)1 Yuan J. and Chen J. (2013)
    8. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 23514 HGNC: 28971 AceView: KIAA0146 Ensembl:ENSG00000164808 euGenes: HUgn23514
    ECgene: SPIDR H-InvDB: SPIDR

    (According to HUGE)
    About This Section
    HUGE: KIAA0146

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPIDR Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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