INTS8 (integrator complex subunit 8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55656
Gene name Gene Name - the full gene name approved by the HGNC.
Integrator complex subunit 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INTS8
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf52, INT8, NEDCHS
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611351 26048 ENSG00000164941
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cerebellar Hypoplasia neurodevelopmental disorder with cerebellar hypoplasia and spasticity N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease 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