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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55656
Gene name	Integrator complex subunit 8
Gene symbol	INTS8
Synonyms (NCBI Gene)	C8orf52INT8NEDCHS
Chromosome	8
Chromosome location	8q22.1
Summary	This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Al

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1586479593	A>G	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020909	hsa-miR-155-5p	Proteomics	18668040
MIRT021822	hsa-miR-132-3p	Microarray	17612493
MIRT022035	hsa-miR-128-3p	Microarray	17612493
MIRT444259	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT444258	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT444257	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT444256	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT444255	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT444254	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT444253	hsa-miR-3163	PAR-CLIP	22100165
MIRT444252	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT444251	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444250	hsa-miR-4452	PAR-CLIP	22100165
MIRT444259	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT444258	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT444257	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT444256	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT444255	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT444254	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT444253	hsa-miR-3163	PAR-CLIP	22100165
MIRT444252	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT444251	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444250	hsa-miR-4452	PAR-CLIP	22100165
MIRT444259	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT444258	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT444257	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT444256	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT444255	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT444254	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT444253	hsa-miR-3163	PAR-CLIP	22100165
MIRT444252	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT444251	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444250	hsa-miR-4452	PAR-CLIP	22100165
MIRT444259	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT444258	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT444257	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT444256	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT444255	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT444254	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT444253	hsa-miR-3163	PAR-CLIP	22100165
MIRT444252	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT444251	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444250	hsa-miR-4452	PAR-CLIP	22100165
MIRT1068256	hsa-miR-1231	CLIP-seq
MIRT1068257	hsa-miR-4288	CLIP-seq
MIRT1068258	hsa-miR-4766-5p	CLIP-seq
MIRT1068259	hsa-miR-632	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	34004147
GO:0005515	Function	Protein binding	IPI	16239144, 33548203, 33961781
GO:0005634	Component	Nucleus	IDA	34004147, 39032490
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	32647223
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0016180	Process	SnRNA processing	IDA	16239144
GO:0016180	Process	SnRNA processing	NAS	16239144
GO:0032039	Component	Integrator complex	IBA
GO:0032039	Component	Integrator complex	IDA	16239144, 33548203, 36920904, 39032490
GO:0032039	Component	Integrator complex	NAS	33548203
GO:0034243	Process	Regulation of transcription elongation by RNA polymerase II	NAS	32697989
GO:0034472	Process	SnRNA 3'-end processing	IBA
GO:0034472	Process	SnRNA 3'-end processing	IEA
GO:0071168	Process	Protein localization to chromatin	IDA	34004147, 37080207
GO:0160232	Component	INTAC complex	IDA	33243860, 34004147, 34762484, 36869814, 37080207, 38570683
GO:0160240	Process	RNA polymerase II transcription initiation surveillance	IDA	33243860, 34004147, 37080207, 38570683

MIM	HGNC	e!Ensembl
611351	26048	ENSG00000164941

Q75QN2

Protein name

Integrator complex subunit 8 (Int8) (Protein kaonashi-1)

Protein function

Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:28542170, PubMed:33243860, PubMed:34004147, PubMed:37080207, PubMed:38570683).

PDB

7CUN , 7PKS , 7YCX , 8RBX , 8RBZ , 8RC4 , 8YJB , 9EOF , 9EP4

Family and domains

Sequence

MSAEAADREAATSSRPCTPPQTCWFEFLLEESLLEKHLRKPCPDPAPVQLIVQFLEQASK
PSVNEQNQVQPPPDNKRNRILKLLALKVAAHLKWDLDILEKSLSVPVLNMLLNELLCISK
VPPGTKHVDMDLATLPPTTAMAVLLYNRWAIRTIVQSSFPVKQAKPGPPQLSVMNQMQQE
KELTENILKVLKEQAADSILVLEAALKLNKDLYVHTMRTLDLLAMEPGMVNGETESSTAG
LKVKTEEMQCQVCYDLGAAYFQQGSTNSAVYENAREKFFRTKELIAEIGSLSLHCTIDEK
RLAGYCQACDVLVPSSDSTSQQLTPYSQVHICLRSGNYQEVIQIFIEDNLTLSLPVQFRQ
SVLRELFKKAQQGNEALDEICFKVCACNTVRDILEGRTISVQFNQLFLRPNKEKIDFLLE
VCSRSVNLEKASESLKGNMAAFLKNVCLGLEDLQYVFMISSHELFITLLKDEERKLLVDQ
MRKRSPRVNLCIKPVTSFYDIPASASVNIGQLEHQLILSVDPWRIRQILIELHGMTSERQ
FWTVSNKWEVPSVYSGVILGIKDNLTRDLVYILMAKGLHCSTVKDFSHAKQLFAACLELV
TEFSPKLRQVMLNEMLLLDIHTHEAGTGQAGERPPSDLISRVRGYLEMRLPDIPLRQVIA
EECVAFMLNWRENEYLTLQVPAFLLQSNPYVKLGQLLAATCKELPGPKESRRTAKDLWEV
VVQICSVSSQHKRGNDGRVSLIKQRESTLGIMYRSELLSFIKKLREPLVLTIILSLFVKL
HNVREDIVNDITAEHISIWPSSIPNLQSVDFEAVAITVKELVRYTLSINPNNHSWLIIQA
DIYFATNQYSAALHYYLQAGAVCSDFFNKAVPPDVYTDQVIKRMIKCCSLLNCHTQVAIL
CQFLREIDYKTAFKSLQEQNSHDAMDSYYDYIWDVTILEYLTYLHHKRGETDKRQIAIKA
IGQTELNASNPEEVLQLAAQRRKKKFLQAMAKLYF

Sequence length

995

Interactions

View interactions

	Reactome
			RNA polymerase II transcribes snRNA genes

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	Likely pathogenic; Pathogenic	rs1192451883, rs1586479593, rs1586540615	RCV003148507 RCV000850274 RCV000850275	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
INTS8-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	20049490, 24487615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34880328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27567667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34880328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	25102180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	28542170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30881114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	28542170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28542170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33802599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	28542170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	28542170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23722107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	BEFREE	20232122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	20232122		★★★★★ ★☆☆☆☆ Found in Text Mining only

INTS8 (integrator complex subunit 8)