SPIDR (scaffold protein involved in DNA repair)

Gene

• Entrez ID: 23514
• Gene name: Scaffold protein involved in DNA repair
• Gene symbol: SPIDR
• Synonyms (NCBI Gene): KIAA0146, ODG9
• Disease Acronyms (UniProt): ODG9
• Chromosome: 8
• Chromosome location: 8q11.21

miRNA

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
MIRT648412	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT648411	hsa-miR-1301-3p	HITS-CLIP	23824327
MIRT648410	hsa-miR-5047	HITS-CLIP	23824327
MIRT740268	hsa-miR-4282	HITS-CLIP	19536157
MIRT740269	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT742024	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT742025	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT742026	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT742027	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT742028	hsa-miR-1301-3p	HITS-CLIP	23824327
MIRT742029	hsa-miR-5047	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IBA	21873635
GO:0000228	Component	Nuclear chromosome	IDA	23509288
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA	21873635
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	23509288
GO:0005515	Function	Protein binding	IPI	23509288, 23754376
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	23509288
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IDA	23754376
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	23509288
GO:0070202	Process	Regulation of establishment of protein localization to chromosome	IBA	21873635
GO:0070202	Process	Regulation of establishment of protein localization to chromosome	IDA	23509288
GO:0071479	Process	Cellular response to ionizing radiation	IDA	23509288, 23754376
GO:0072711	Process	Cellular response to hydroxyurea	IDA	23509288
GO:0072757	Process	Cellular response to camptothecin	IDA	23509288
GO:2000781	Process	Positive regulation of double-strand break repair	IMP	23509288

Other IDs

• MIM: 615384
• HGNC: 28971
• e!Ensembl: ENSG00000164808

Protein

• UniProt ID: 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

Pathways

Reactome:

Resolution of D-loop Structures through Holliday Junction Intermediates

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578

Unknown
Disease term	Disease name	Evidence	References	Source
Gonadal Dysgenesis	46 XX gonadal dysgenesis			GenCC
Ovarian Dysgenesis	ovarian dysgenesis 9			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Bloom Syndrome	Associate	23509288
Drug Hypersensitivity	Associate	23509288
Primary Ovarian Insufficiency	Associate	36099812