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Aliases for SPIDR Gene

Aliases for SPIDR Gene

  • Scaffolding Protein Involved In DNA Repair 2 3 4 5
  • KIAA0146 2 3 4
  • DNA Repair-Scaffolding Protein 3

External Ids for SPIDR Gene

Previous HGNC Symbols for SPIDR Gene

  • KIAA0146

Previous GeneCards Identifiers for SPIDR Gene

  • GC08P048174

Summaries for SPIDR Gene

GeneCards Summary for SPIDR Gene

SPIDR (Scaffolding Protein Involved In DNA Repair) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).

UniProtKB/Swiss-Prot for SPIDR Gene

  • Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPIDR Gene

Genomics for SPIDR Gene

Regulatory Elements for SPIDR Gene

Enhancers for SPIDR 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
GH08G047506 1.5 Ensembl ENCODE dbSUPER 22 +250.6 250564 10.3 HDGF PKNOX1 ATF1 WRNIP1 SIN3A BRCA1 ZNF48 YY1 GATA2 FOS SPIDR CEBPD MCM4 RPL29P19 ATP6V1G1P2 LOC100420054 PIR56974
GH08G047351 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +95.3 95267 8.2 ATF1 FOXA2 MLX YY1 ZNF121 FOS SP5 PPARG ZNF592 PBX2 CEBPD SPIDR MCM4 LOC100420054 RPL10AP2 PIR60563 GC08M047258
GH08G047376 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +120.9 120947 9.3 ELF3 PKNOX1 FOXA2 SIN3A ZBTB40 RAD21 RARA YY1 ZSCAN5C SCRT2 SPIDR MCM4 RPL10AP2 PIR60563 GC08M047258
GH08G047429 1.5 FANTOM5 Ensembl ENCODE 10.9 +170.4 170401 3.2 HDAC1 PKNOX1 ATF1 RAD21 EGR1 FOS CREM CEBPB JUNB NCOA1 SPIDR RPL10AP2 MCM4 LOC100420054 CEBPD PIR60563 GC08M047258
GH08G047675 1.4 Ensembl ENCODE dbSUPER 10.9 +416.1 416126 2.6 SIN3A INSM2 RAD21 ZEB1 ZNF335 ZNF766 GLIS2 ZNF366 GATA2 FOS CEBPD SPIDR RNU6-665P PIR54596
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPIDR on UCSC Golden Path with GeneCards custom track

Promoters for SPIDR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000224187 525 1401 HDGF CREB3L1 ARID4B SIN3A ZNF2 ZNF48 ZNF766 ELK1 SP3 ZNF518A

Genomic Location for SPIDR Gene

Chromosome:
8
Start:
47,260,575 bp from pter
End:
47,736,306 bp from pter
Size:
475,732 bases
Orientation:
Plus strand

Genomic View for SPIDR Gene

Genes around SPIDR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SPIDR Gene

Proteins for SPIDR Gene

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

    Protein Symbol:
    Q14159-SPIDR_HUMAN
    Recommended name:
    DNA repair-scaffolding protein
    Protein Accession:
    Q14159
    Secondary Accessions:
    • B4DFV2
    • B4E0Y6
    • Q96BI5

    Protein attributes for SPIDR Gene

    Size:
    915 amino acids
    Molecular mass:
    100316 Da
    Quaternary structure:
    • Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts (via C-terminal region) with BLM; the interaction is direct. Interacts with RAD51; the interaction is direct. Interacts (via the C-terminal region) with FIGNL1 (via N-terminal one-half region); the interaction is direct.
    SequenceCaution:
    • Sequence=BAA09767.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPIDR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPIDR Gene

Post-translational modifications for SPIDR Gene

  • Ubiquitination at Lys346
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPIDR Gene

Domains & Families for SPIDR Gene

Protein Domains for SPIDR Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for SPIDR Gene

Function for SPIDR Gene

Molecular function for SPIDR Gene

UniProtKB/Swiss-Prot Function:
Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity.
UniProtKB/Swiss-Prot Induction:
Up-regulated in vascular endothelial cells treated with IL4. Up-regulated upon human SARS coronavirus infection.

Gene Ontology (GO) - Molecular Function for SPIDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23509288
genes like me logo Genes that share ontologies with SPIDR: view
genes like me logo Genes that share phenotypes with SPIDR: view

Animal Models for SPIDR Gene

MGI Knock Outs for SPIDR:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPIDR Gene

Localization for SPIDR Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPIDR Gene

Nucleus. Note=Together with BLM, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment.

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 SPIDR gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SPIDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 23509288
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with SPIDR: view

Pathways & Interactions for SPIDR Gene

genes like me logo Genes that share pathways with SPIDR: view

Interacting Proteins for SPIDR Gene

Gene Ontology (GO) - Biological Process for SPIDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 23509288
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IDA,IEA 23509288
GO:0010569 regulation of double-strand break repair via homologous recombination IDA 23754376
genes like me logo Genes that share ontologies with SPIDR: view

No data available for SIGNOR curated interactions for SPIDR Gene

Transcripts for SPIDR Gene

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SPIDR Gene

GeneLoc Exon Structure for
SPIDR
ECgene alternative splicing isoforms for
SPIDR

Expression for SPIDR Gene

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

Protein differential expression in normal tissues from HIPED for SPIDR Gene

This gene is overexpressed in Cervix (64.3).

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



Protein tissue co-expression partners for SPIDR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPIDR Gene:

SPIDR

Evidence on tissue expression from TISSUES for SPIDR Gene

  • Nervous system(4.9)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with SPIDR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPIDR Gene

Orthologs for SPIDR Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPIDR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPIDR 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia SPIDR 34 35
  • 80.98 (n)
cow
(Bos Taurus)
Mammalia SPIDR 34 35
  • 75.88 (n)
mouse
(Mus musculus)
Mammalia Spidr 34 16 35
  • 75.58 (n)
rat
(Rattus norvegicus)
Mammalia Spidr 34
  • 75.19 (n)
oppossum
(Monodelphis domestica)
Mammalia SPIDR 35
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPIDR 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC421106 34
  • 59.95 (n)
SPIDR 35
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPIDR 35
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spidr 34
  • 54.28 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100535045 34
  • 49.13 (n)
CABZ01035647.1 35
  • 32 (a)
OneToOne
Species where no ortholog for SPIDR 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPIDR Gene

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

Paralogs for SPIDR Gene

No data available for Paralogs for SPIDR Gene

Variants for SPIDR Gene

Sequence variations from dbSNP and Humsavar for SPIDR Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000003501 -- 47,727,133(+) CACGT(A/G)GAGGA intron-variant
rs1000011106 -- 47,674,951(+) AGTAG(A/G)TAAGA intron-variant
rs1000013897 -- 47,526,322(+) CATCA(A/G)TAAAT intron-variant
rs1000020368 -- 47,409,680(+) TATTA(C/T)ATTAC intron-variant
rs1000022681 -- 47,438,382(+) TCTAG(A/G)GCTTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3821n106 CNV deletion 24896259
dgv57n47 OTHER inversion 21111241
dgv7211n100 CNV gain 25217958
dgv7212n100 CNV loss 25217958
esv1006968 OTHER inversion 20482838
esv1505928 OTHER inversion 17803354
esv2661219 CNV deletion 23128226
esv2666116 CNV deletion 23128226
esv2672453 CNV deletion 23128226
esv2673242 CNV deletion 23128226
esv2675544 CNV deletion 23128226
esv2736971 CNV deletion 23290073
esv2736972 CNV deletion 23290073
esv2759610 CNV gain 17122850
esv32677 CNV loss 17666407
esv3377211 CNV insertion 20981092
esv3396336 CNV insertion 20981092
esv3444020 OTHER inversion 20981092
esv3576568 CNV gain 25503493
esv3576569 CNV gain 25503493
esv3617091 CNV gain 21293372
esv3617092 CNV gain 21293372
esv3617093 CNV loss 21293372
esv3617094 CNV loss 21293372
esv3617095 CNV loss 21293372
esv3617096 CNV loss 21293372
esv3617097 CNV loss 21293372
esv3617099 CNV loss 21293372
esv3617102 CNV loss 21293372
nsv1022487 CNV gain 25217958
nsv1028036 CNV gain 25217958
nsv1075551 CNV deletion 25765185
nsv1109968 CNV deletion 24896259
nsv1126854 CNV deletion 24896259
nsv470211 CNV loss 18288195
nsv507461 OTHER sequence alteration 20534489
nsv510145 OTHER sequence alteration 20534489
nsv513683 OTHER inversion 21212237
nsv525063 CNV loss 19592680
nsv7416 OTHER inversion 18451855
nsv971306 CNV duplication 23825009
nsv971650 CNV duplication 23825009

Variation tolerance for SPIDR Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPIDR Gene

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

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

Disorders for SPIDR Gene

Relevant External Links for SPIDR

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPIDR

No disorders were found for SPIDR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPIDR Gene

Publications for SPIDR Gene

  1. Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (PMID: 23509288) Wan L. … Huang J. (Proc. Natl. Acad. Sci. U.S.A. 2013) 2 3 4 64
  2. 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. (PMID: 8590280) Nagase T. … Nomura N. (DNA Res. 1995) 2 3 4 64
  3. FIGNL1-containing protein complex is required for efficient homologous recombination repair. (PMID: 23754376) Yuan J. … Chen J. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
  4. 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. (PMID: 15858003) Tang B.S.F. … Yuen K.-Y. (J. Virol. 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for SPIDR Gene

Sources for SPIDR Gene

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