Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
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

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
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IDA	23509288
GO:0006974	Process	DNA damage response	IEA
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
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

MIM	HGNC	e!Ensembl
615384	28971	ENSG00000164808

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

	Reactome
			Resolution of D-loop Structures through Holliday Junction Intermediates

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Genetic non-acquired premature ovarian failure	Pathogenic	rs781987881, rs754810654	RCV001661758 RCV001661759	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian dysgenesis 9	Pathogenic	rs1554668422, rs782042817	RCV001795888 RCV001795889	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
46 XX GONADAL DYSGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPIDR-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46,XX gonadal dysgenesis	46, XX gonadal dysgenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23603433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	23509288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	23509288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23603433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	27967308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	ORPHANET_DG	27967308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Ischemic Stroke	BEFREE	25971543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23603433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	ORPHANET_DG	27967308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	27967308		★★★★★ ★☆☆☆☆ Found in Text Mining only

SPIDR (scaffold protein involved in DNA repair)