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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. Diseases associated with SPIDR include 46Xx Sex Reversal 1. 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.

Additional gene information for SPIDR Gene

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
GH08H047959 1.1 ENCODE 43.6 +700.1 700062 3 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 PRKDC SPIDR SNAI2 RPL10AP2 ENSG00000253688 LOC100420054 RPL29P19 MCM4 PIR48725
GH08H047506 1.5 Ensembl ENCODE dbSUPER 22 +250.6 250564 10 HDGF FOXA2 PKNOX1 ATF1 SIN3A BRCA1 YY1 FOS ATF7 RUNX3 SPIDR CEBPD MCM4 RPL29P19 ATP6V1G1P2 LOC100420054 PIR56974
GH08H048007 1.1 ENCODE 28.7 +748.3 748285 2 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 ZNF143 SPIDR PRKDC SNAI2 RPL29P19 ENSG00000255366 GC08M047394 PIR60583
GH08H047763 0.6 Ensembl 34 +502.9 502926 0 SUZ12 ZKSCAN1 ZNF148 NONO ADNP IKZF1 ZBTB33 SALL1 SPIDR PRKDC RPL10AP2 CEBPD ENSG00000253688 LOC100420054 ENSG00000207450 GC08M047806
GH08H047351 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +95.3 95267 8 ATF1 FOXA2 MLX YY1 ZNF121 FOS ATF7 SP5 REST PPARG CEBPD PRKDC SPIDR MCM4 LOC100420054 RPL10AP2 PIR60563 GC08M047258
- 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 ARID4B SIN3A ZNF2 ZNF766 ELK1 ATF7 RUNX3 SP3 REST

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 posLast=346346
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPIDR Gene

Domains & Families for SPIDR Gene

Gene Families for SPIDR Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 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.

Phenotypes From GWAS Catalog for SPIDR Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPIDR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA,IDA 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

Drugs & Compounds for SPIDR Gene

No Compound Related Data Available

Transcripts for SPIDR Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPIDR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia SPIDR 33 34
  • 80.98 (n)
cow
(Bos Taurus)
Mammalia SPIDR 33 34
  • 75.88 (n)
mouse
(Mus musculus)
Mammalia Spidr 33 16 34
  • 75.58 (n)
rat
(Rattus norvegicus)
Mammalia Spidr 33
  • 75.19 (n)
oppossum
(Monodelphis domestica)
Mammalia SPIDR 34
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPIDR 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC421106 33
  • 59.95 (n)
SPIDR 34
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPIDR 34
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spidr 33
  • 54.28 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100535045 33
  • 49.13 (n)
CABZ01035647.1 34
  • 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

MalaCards: The human disease database

(1) MalaCards diseases for SPIDR Gene - From: Orphanet

Disorder Aliases PubMed IDs
46xx sex reversal 1
  • 46,xx testicular disorder of sex development
- elite association - COSMIC cancer census association via MalaCards
Search SPIDR in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPIDR

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPIDR
genes like me logo Genes that share disorders with SPIDR: view

No data available for 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 (Proceedings of the National Academy of Sciences of the United States of America 2013) 2 3 4 60
  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 research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 60
  3. FIGNL1-containing protein complex is required for efficient homologous recombination repair. (PMID: 23754376) Yuan J … Chen J (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 60
  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 BS … Yuen KY (Journal of virology 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for SPIDR Gene

Sources for SPIDR Gene

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