• Gene id: 23514

Gene Summary

• Gene Symbol: SPIDR   Gene   UCSC   Ensembl
• Aliases: KIAA0146
• Gene name: scaffold protein involved in DNA repair
• Alternate names: DNA repair-scaffolding protein, scaffolding protein involved in DNA repair,
• Gene location: 8q11.21 (47260877: 47736305)     Exons: 31     NC_000008.11
• OMIM: 605880

Protein Summary

• Protein general information: Q14159  
  • Name: DNA repair scaffolding protein (Scaffolding protein involved in DNA repair)
  • Length: 915  
  • Mass: 100316
• Sequence:

  MPRGSRARGSKRKRSWNTECPSFPGERPLQVRRAGLRTAGAAASLSEAWLRCGEGFQNTSGNPSLTAEEKTITEK
  HLELCPRPKQETTTSKSTSGLTDITWSSSGSDLSDEDKTLSQLQRDELQFIDWEIDSDRAEASDCDEFEDDEGAV
  EISDCASCASNQSLTSDEKLSELPKPSSIEILEYSSDSEKEDDLENVLLIDSESPHKYHVQFASDARQIMERLID
  PRTKSTETILHTPQKPTAKFPRTPENSAKKKLLRGGLAERLNGLQNRERSAISLWRHQCISYQKTLSGRKSGVLT
  VKILELHEECAMQVAMCEQLLGSPATSSSQSVAPRPGAGLKVLFTKETAGYLRGRPQDTVRIFPPWQKLIIPSGS
  CPVILNTYFCEKVVAKEDSEKTCEVYCPDIPLPRRSISLAQMFVIKGLTNNSPEIQVVCSGVATTGTAWTHGHKE
  AKQRIPTSTPLRDSLLDVVESQGAASWPGAGVRVVVQRVYSLPSRDSTRGQQGASSGHTDPAGTRACLLVQDACG
  MFGEVHLEFTMSKARQLEGKSCSLVGMKVLQKVTRGRTAGIFSLIDTLWPPAIPLKTPGRDQPCEEIKTHLPPPA
  LCYILTAHPNLGQIDIIDEDPIYKLYQPPVTRCLRDILQMNDLGTRCSFYATVIYQKPQLKSLLLLEQREIWLLV
  TDVTLQTKEERDPRLPKTLLVYVAPLCVLGSEVLEALAGAAPHSLFFKDALRDQGRIVCAERTVLLLQKPLLSVV
  SGASSCELPGPVMLDSLDSATPVNSICSVQGTVVGVDESTAFSWPVCDMCGNGRLEQRPEDRGAFSCGDCSRVVT
  SPVLKRHLQVFLDCRSRPQCRVKVKLLQRSISSLLRFAAGEDGSYEVKSVLGKEVGLLNCFVQSVTAHPTSCIGL
  EEIELLSAGGASAEH

• Structural information:
  • Interpro: IPR028026  IPR028032  
  • STRING: ENSP00000297423
• Other Databases: GeneCards:  SPIDR  Malacards:  SPIDR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0070202	regulation of establishment of protein localization to chromosome	IBA	biological process
GO:0000228	nuclear chromosome	IBA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0070202	regulation of establishment of protein localization to chromosome	IDA	biological process
GO:0031334	positive regulation of protein-containing complex assembly	IDA	biological process
GO:0010569	regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0072757	cellular response to camptothecin	IDA	biological process
GO:0072711	cellular response to hydroxyurea	IDA	biological process
GO:0071479	cellular response to ionizing radiation	IDA	biological process
GO:0071479	cellular response to ionizing radiation	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0000228	nuclear chromosome	IDA	cellular component
GO:2000781	positive regulation of double-strand break repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq