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

526

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV001917590 RCV001921359 RCV001993256 RCV001993307 RCV001949407 RCV001912348 RCV000169676 RCV003072193 RCV002578856 RCV000005875 RCV000005876 RCV002876034 RCV003132618 RCV003614496 RCV003613696 RCV003613753 RCV003614739 RCV003615244 RCV003843176 RCV003989197 RCV000697004 RCV001860593 RCV001042703 RCV001069727 RCV001247352
Mycobacterium tuberculosis, susceptibility to	Likely pathogenic; Pathogenic	rs1011767398, rs751020218, rs754452211, rs199844454, rs199938221, rs763364899	RCV005023055 RCV005023136 RCV005023463 RCV005025512 RCV005029598 RCV005029665

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	rs149485401, rs148591984	RCV005896123 RCV005896141
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs149485401	RCV005896126
Cervical cancer	Benign; Likely benign	rs149485401	RCV005896127
Cholangiocarcinoma	Benign; Likely benign	rs149485401	RCV005896137
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs149485401	RCV005896140
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs149485401, rs148591984, rs148808440	RCV005896128 RCV005896143 RCV005902076
Colon adenocarcinoma	Benign; Likely benign	rs149485401	RCV005896122
Familial cancer of breast	Conflicting classifications of pathogenicity	rs201034113	RCV005896120
Familial pancreatic carcinoma	Benign; Likely benign	rs149485401	RCV005896129
Gastric cancer	Benign; Likely benign	rs149485401	RCV005896131
Hepatocellular carcinoma	Benign; Likely benign	rs149485401	RCV005896124
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs149485401, rs148591984	RCV005896138 RCV005896144
Lymphoma	Benign; Likely benign	rs149485401	RCV005896132
Malignant tumor of urinary bladder	Uncertain significance	rs2106342777	RCV005924009
Nonpapillary renal cell carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs149485401, rs201034113	RCV005896125 RCV005896121
Ovarian cancer	Conflicting classifications of pathogenicity	rs148591984	RCV005896142
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs149485401	RCV005896133
Sarcoma	Benign; Likely benign	rs149485401	RCV005896130
SP110-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs201435337, rs115116751, rs376677600, rs149485401, rs201034113, rs148591984, rs77642505, rs780243875, rs376997701, rs114743173, rs144428054, rs116626378, rs767345511, rs770898382	RCV003956073 RCV003980569 RCV003926463 RCV003972417 RCV003957726 RCV003969964 RCV003922446 RCV003942013 RCV003944714 RCV003979985 RCV003900179 RCV003980244 RCV003968061 RCV003933152
Thymoma	Benign; Likely benign	rs149485401	RCV005896135
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs149485401	RCV005896136
Uterine carcinosarcoma	Benign; Likely benign	rs149485401	RCV005896134
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs149485401	RCV005896139

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agammaglobulinemia	Associate	16648851
Breast Neoplasms	Associate	27832451
Carcinoma Hepatocellular	Associate	35653238
Diabetes Mellitus	Associate	29920932
Genetic Diseases Inborn	Associate	16648851
Hepatic Veno Occlusive Disease	Associate	16648851
Hepatic venoocclusive disease with immunodeficiency	Associate	28825155
Hepatitis B	Associate	35653238
Immunologic Deficiency Syndromes	Associate	16648851
Infections	Associate	35653238
Influenza Human	Associate	31665046
Interferon gamma receptor 1 deficiency	Associate	23683877
Latent Tuberculosis	Associate	30627224
Leukemia Promyelocytic Acute	Associate	10913195
Neoplasms	Associate	27832451
Obsessive Compulsive Disorder	Associate	32063569
Tuberculosis	Associate	16816019, 30627224, 36249417
Tuberculosis Lymph Node	Associate	36672948
Tuberculosis Meningeal	Associate	29430075
Tuberculosis Pulmonary	Associate	29430075, 36249417

SP110 (SP110 nuclear body protein)