INTS8 (integrator complex subunit 8)

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
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
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
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611351 26048 ENSG00000164941
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    RNA polymerase II transcribes snRNA genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity Likely pathogenic; Pathogenic rs1192451883, rs1586479593, rs1586540615 RCV003148507
RCV000850274
RCV000850275
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
INTS8-related disorder Likely benign; Benign; Uncertain significance rs77629237, rs138818665, rs713113, rs1129152, rs2488099266, rs150251689, rs140060323, rs201008080, rs144329224, rs141032302, rs145234611, rs148690736, rs150502842 RCV003910968
RCV003948684
RCV003984089
RCV003976131
RCV003399734
RCV003908964
RCV003904213
RCV003939631
RCV003957022
RCV003926865
RCV003976273
RCV003928521
RCV003926238
Long QT syndrome Likely benign rs796052157 RCV000190147
Prostate cancer Uncertain significance rs193920861 RCV000149247
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 34880328
Carcinoma Hepatocellular Associate 27567667
Cholangiocarcinoma Associate 34880328
Hypersensitivity Delayed Associate 28542170
Lymphoma T Cell Peripheral Associate 26536348
Malformations of Cortical Development Group II Associate 28542170
Multiple Sclerosis Associate 33802599
Neoplasm Metastasis Associate 27567667
Neoplasms Associate 23722107, 27567667, 28468258
Periventricular Nodular Heterotopia Associate 28542170