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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3431
Gene name	SP110 nuclear body protein
Gene symbol	SP110
Synonyms (NCBI Gene)	IFI41IFI75IPR1VODI
Chromosome	2
Chromosome location	2q37.1
Summary	The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can func

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs927135298	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1560530550	->G	Pathogenic	Coding sequence variant, frameshift variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019722	hsa-miR-375	Microarray	20215506
MIRT621119	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT621118	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT621117	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT621116	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT621115	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621114	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621113	hsa-miR-1976	HITS-CLIP	23824327
MIRT621112	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT621111	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT621110	hsa-miR-4279	HITS-CLIP	23824327
MIRT621109	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT621108	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621107	hsa-miR-498	HITS-CLIP	23824327
MIRT635902	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT635901	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT635900	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT635899	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT635898	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT635897	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT635896	hsa-miR-4284	HITS-CLIP	23824327
MIRT635895	hsa-miR-4713-3p	HITS-CLIP	23824327
MIRT635894	hsa-miR-638	HITS-CLIP	23824327
MIRT635893	hsa-miR-541-3p	HITS-CLIP	23824327
MIRT635892	hsa-miR-654-5p	HITS-CLIP	23824327
MIRT635891	hsa-miR-92a-2-5p	HITS-CLIP	23824327
MIRT635889	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT635890	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT635888	hsa-miR-4654	HITS-CLIP	23824327
MIRT635887	hsa-miR-4769-5p	HITS-CLIP	23824327
MIRT635886	hsa-miR-450b-3p	HITS-CLIP	23824327
MIRT635885	hsa-miR-769-3p	HITS-CLIP	23824327
MIRT621119	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT621118	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT621117	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT621116	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT621115	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621114	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621113	hsa-miR-1976	HITS-CLIP	23824327
MIRT621112	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT621111	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT621110	hsa-miR-4279	HITS-CLIP	23824327
MIRT621109	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT621108	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621107	hsa-miR-498	HITS-CLIP	23824327
MIRT513437	hsa-miR-2392	PAR-CLIP	23446348
MIRT513436	hsa-miR-1265	PAR-CLIP	23446348
MIRT513435	hsa-miR-6716-5p	PAR-CLIP	23446348
MIRT513434	hsa-miR-5187-5p	PAR-CLIP	23446348
MIRT513433	hsa-miR-6728-5p	PAR-CLIP	23446348
MIRT733904	hsa-miR-548ba	Luciferase reporter assayMicroarrayqRT-PCR	32042028
MIRT621119	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT621118	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT621117	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT621116	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT621115	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621114	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621113	hsa-miR-1976	HITS-CLIP	23824327
MIRT621112	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT621111	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT621110	hsa-miR-4279	HITS-CLIP	23824327
MIRT621109	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT621108	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621107	hsa-miR-498	HITS-CLIP	23824327
MIRT635902	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT635901	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT635900	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT635899	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT635898	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT635897	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT635896	hsa-miR-4284	HITS-CLIP	23824327
MIRT635895	hsa-miR-4713-3p	HITS-CLIP	23824327
MIRT635894	hsa-miR-638	HITS-CLIP	23824327
MIRT635893	hsa-miR-541-3p	HITS-CLIP	23824327
MIRT635892	hsa-miR-654-5p	HITS-CLIP	23824327
MIRT635891	hsa-miR-92a-2-5p	HITS-CLIP	23824327
MIRT635889	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT635890	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT635888	hsa-miR-4654	HITS-CLIP	23824327
MIRT635887	hsa-miR-4769-5p	HITS-CLIP	23824327
MIRT635886	hsa-miR-450b-3p	HITS-CLIP	23824327
MIRT635885	hsa-miR-769-3p	HITS-CLIP	23824327
MIRT621119	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT621118	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT621117	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT621116	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT621115	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621114	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621113	hsa-miR-1976	HITS-CLIP	23824327
MIRT621112	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT621111	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT621110	hsa-miR-4279	HITS-CLIP	23824327
MIRT621109	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT621108	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621107	hsa-miR-498	HITS-CLIP	23824327
MIRT513437	hsa-miR-2392	PAR-CLIP	23446348
MIRT513436	hsa-miR-1265	PAR-CLIP	23446348
MIRT513435	hsa-miR-6716-5p	PAR-CLIP	23446348
MIRT513434	hsa-miR-5187-5p	PAR-CLIP	23446348
MIRT513433	hsa-miR-6728-5p	PAR-CLIP	23446348
MIRT1380898	hsa-miR-1324	CLIP-seq
MIRT1380899	hsa-miR-134	CLIP-seq
MIRT1380900	hsa-miR-18a	CLIP-seq
MIRT1380901	hsa-miR-18b	CLIP-seq
MIRT1380902	hsa-miR-2276	CLIP-seq
MIRT1380903	hsa-miR-3118	CLIP-seq
MIRT1380904	hsa-miR-3136-5p	CLIP-seq
MIRT1380905	hsa-miR-3153	CLIP-seq
MIRT1380906	hsa-miR-4439	CLIP-seq
MIRT1380907	hsa-miR-4513	CLIP-seq
MIRT1380908	hsa-miR-4521	CLIP-seq
MIRT1380909	hsa-miR-4735-3p	CLIP-seq
MIRT1380910	hsa-miR-4792	CLIP-seq
MIRT1380911	hsa-miR-1200	CLIP-seq
MIRT1380912	hsa-miR-4324	CLIP-seq
MIRT1380913	hsa-miR-4450	CLIP-seq
MIRT1380914	hsa-miR-491-5p	CLIP-seq
MIRT1380915	hsa-miR-544b	CLIP-seq
MIRT1380898	hsa-miR-1324	CLIP-seq
MIRT1380899	hsa-miR-134	CLIP-seq
MIRT1380900	hsa-miR-18a	CLIP-seq
MIRT1380901	hsa-miR-18b	CLIP-seq
MIRT1380902	hsa-miR-2276	CLIP-seq
MIRT1380903	hsa-miR-3118	CLIP-seq
MIRT1380904	hsa-miR-3136-5p	CLIP-seq
MIRT1380905	hsa-miR-3153	CLIP-seq
MIRT2630505	hsa-miR-3978	CLIP-seq
MIRT2630506	hsa-miR-411	CLIP-seq
MIRT2630507	hsa-miR-4261	CLIP-seq
MIRT1380906	hsa-miR-4439	CLIP-seq
MIRT2630508	hsa-miR-4453	CLIP-seq
MIRT1380907	hsa-miR-4513	CLIP-seq
MIRT1380908	hsa-miR-4521	CLIP-seq
MIRT2630509	hsa-miR-4538	CLIP-seq
MIRT1380909	hsa-miR-4735-3p	CLIP-seq
MIRT1380910	hsa-miR-4792	CLIP-seq
MIRT1380898	hsa-miR-1324	CLIP-seq
MIRT1380899	hsa-miR-134	CLIP-seq
MIRT1380900	hsa-miR-18a	CLIP-seq
MIRT1380901	hsa-miR-18b	CLIP-seq
MIRT1380902	hsa-miR-2276	CLIP-seq
MIRT1380903	hsa-miR-3118	CLIP-seq
MIRT1380904	hsa-miR-3136-5p	CLIP-seq
MIRT1380905	hsa-miR-3153	CLIP-seq
MIRT2630505	hsa-miR-3978	CLIP-seq
MIRT2630507	hsa-miR-4261	CLIP-seq
MIRT1380906	hsa-miR-4439	CLIP-seq
MIRT2630508	hsa-miR-4453	CLIP-seq
MIRT1380907	hsa-miR-4513	CLIP-seq
MIRT1380908	hsa-miR-4521	CLIP-seq
MIRT2630509	hsa-miR-4538	CLIP-seq
MIRT1380909	hsa-miR-4735-3p	CLIP-seq
MIRT1380910	hsa-miR-4792	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	7693701
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7693701
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
604457	5401	ENSG00000135899

Q9HB58

Protein name

Sp110 nuclear body protein (Interferon-induced protein 41/75) (Speckled 110 kDa) (Transcriptional coactivator Sp110)

Protein function

Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03172	HSR	8 → 106	HSR domain	Domain
PF01342	SAND	458 → 533	SAND domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidne

Sequence

MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIP
VSRVVHNILTQLERTFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPIL
LEAPTGLAEGSSLHTPLALPPPQPPQPSCSPCAPRVSEPGTSSQQSDEILSESPSPSDPV
LPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGG
TASSRHGIQKKLKRVDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNE
GKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCA
RKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKM
KHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVC
CQGGQLLCCGTCPRVFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQ
PQDQLIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVG
LDLEAEFEKDLKDVLGFHEANDGGFWTLP

Sequence length

689

Interactions

View interactions

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
Hepatic veno-occlusive disease-immunodeficiency syndrome	Likely pathogenic; Pathogenic	rs1011767398, rs2078486744, rs751020218, rs2148850717, rs199713399, rs2148926458, rs754452211, rs199844454, rs2106343198, rs2106348318, rs2148917380, rs199845488, rs775810248, rs774290827, rs397515361 View all (15 more)	RCV001329909 RCV003106862 RCV001381849 RCV001383491 RCV001785011 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mycobacterium tuberculosis, susceptibility to	Likely pathogenic; Pathogenic	rs1011767398, rs751020218, rs754452211, rs199844454, rs199938221, rs763364899	RCV005023055 RCV005023136 RCV005023463 RCV005025512 RCV005029598 RCV005029665 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (33)

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.
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC VENO-OCCLUSIVE DISEASE WITH IMMUNODEFICIENCY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SP110-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SP110 (SP110 nuclear body protein)