SPIDR (scaffold protein involved in DNA repair)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23514
Gene name Scaffold protein involved in DNA repair
Gene symbol SPIDR
Synonyms (NCBI Gene)
KIAA0146ODG9
Chromosome 8
Chromosome location 8q11.21
miRNA miRNA information provided by mirtarbase database.
16
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
miRTarBase ID miRNA Experiments Reference
MIRT723977 hsa-miR-4282 HITS-CLIP 19536157
MIRT723976 hsa-miR-3613-3p HITS-CLIP 19536157
MIRT648415 hsa-miR-4691-3p HITS-CLIP 23824327
MIRT648414 hsa-miR-6841-3p HITS-CLIP 23824327
MIRT648413 hsa-miR-197-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome IBA
GO:0000228 Component Nuclear chromosome IDA 23509288
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 23509288, 27967308, 34697795
GO:0005515 Function Protein binding IPI 23509288, 23754376, 31665741, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615384 28971 ENSG00000164808
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14159
Protein name DNA repair-scaffolding protein (Scaffolding protein involved in DNA repair)
Protein 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 da
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14950 DUF4502 11 → 369 Domain of unknown function (DUF4502) Family
PF14951 DUF4503 521 → 906 Domain of unknown function (DUF4503) Family
Sequence 
MPRGSRARGSKRKRSWNTECPSFPGERPLQVRRAGLRTAGAAASLSEAWLRCGEGFQNTS
GNPSLTAEEKTITEKHLELCPRPKQETTTSKSTSGLTDITWSSSGSDLSDEDKTLSQLQR
DELQFIDWEIDSDRAEASDCDEFEDDEGAVEISDCASCASNQSLTSDEKLSELPKPSSIE
ILEYSSDSEKEDDLENVLLIDSESPHKYHVQFASDARQIMERLIDPRTKSTETILHTPQK
PTAKFPRTPENSAKKKLLRGGLAERLNGLQNRERSAISLWRHQCISYQKTLSGRKSGVLT
VKILELHEECAMQVAMCEQLLGSPATSSSQSVAPRPGAGLKVLFTKETAGYLRGRPQDTV
RIFPPWQKLIIPSGSCPVILNTYFCEKVVAKEDSEKTCEVYCPDIPLPRRSISLAQMFVI
KGLTNNSPEIQVVCSGVATTGTAWTHGHKEAKQRIPTSTPLRDSLLDVVESQGAASWPGA
GVRVVVQRVYSLPSRDSTRGQQGASSGHTDPAGTRACLLVQDACGMFGEVHLEFTMSKAR
QLEGKSCSLVGMKVLQKVTRGRTAGIFSLIDTLWPPAIPLKTPGRDQPCEEIKTHLPPPA
LCYILTAHPNLGQIDIIDEDPIYKLYQPPVTRCLRDILQMNDLGTRCSFYATVIYQKPQL
KSLLLLEQREIWLLVTDVTLQTKEERDPRLPKTLLVYVAPLCVLGSEVLEALAGAAPHSL
FFKDALRDQGRIVCAERTVLLLQKPLLSVVSGASSCELPGPVMLDSLDSATPVNSICSVQ
GTVVGVDESTAFSWPVCDMCGNGRLEQRPEDRGAFSCGDCSRVVTSPVLKRHLQVFLDCR
SRPQCRVKVKLLQRSISSLLRFAAGEDGSYEVKSVLGKEVGLLNCFVQSVTAHPTSCIGL
EEIELLSAGGASAEH
Sequence length 915
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Resolution of D-loop Structures through Holliday Junction Intermediates
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Genetic non-acquired premature ovarian failure Pathogenic rs781987881, rs754810654 RCV001661758
RCV001661759
Ovarian dysgenesis 9 Pathogenic rs1554668422, rs782042817 RCV001795888
RCV001795889
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SPIDR-related disorder Likely benign rs186376230 RCV003968992
Thyroid cancer, nonmedullary, 1 Uncertain significance rs377479209 RCV005911429
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bloom Syndrome Associate 23509288
Drug Hypersensitivity Associate 23509288
Primary Ovarian Insufficiency Associate 36099812