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    INTS8 integrator complex subunit 8 [ Homo sapiens (human) ]

    Gene ID: 55656, updated on 27-Nov-2024

    Summary

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    Official Symbol
    INTS8provided by HGNC
    Official Full Name
    integrator complex subunit 8provided by HGNC
    Primary source
    HGNC:HGNC:26048
    See related
    Ensembl:ENSG00000164941 MIM:611351; AllianceGenome:HGNC:26048
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    INT8; NEDCHS; C8orf52
    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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in testis (RPKM 10.0), lymph node (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INTS8 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94823287..94881746)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95948260..96006732)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95835515..95893974)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene epithelial splicing regulatory protein 1 Neighboring gene ribosomal protein S15a pseudogene 26 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:95731221-95732175 Neighboring gene dpy-19 like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27635 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:95906241-95906802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27636 Neighboring gene small nucleolar RNA U13 Neighboring gene cyclin E2 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. INTS8 is a therapeutic target for intrahepatic cholangiocarcinoma via the integration of bioinformatics analysis and experimental validation. Zhou Q, et al. Sci Rep, 2021 Dec 8. PMID 34880328, Free PMC Article
    2. Human mutations in integrator complex subunits link transcriptome integrity to brain development. Oegema R, et al. PLoS Genet, 2017 May. PMID 28542170, Free PMC Article
    3. INTS10-INTS13-INTS14 form a functional module of Integrator that binds nucleic acids and the cleavage module. Sabath K, et al. Nat Commun, 2020 Jul 9. PMID 32647223, Free PMC Article
    4. The Human Integrator Complex Facilitates Transcriptional Elongation by Endonucleolytic Cleavage of Nascent Transcripts. Beckedorff F, et al. Cell Rep, 2020 Jul 21. PMID 32697989, Free PMC Article
    5. Structure of the catalytic core of the Integrator complex. Pfleiderer MM, et al. Mol Cell, 2021 Mar 18. PMID 33548203, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. INTS8 is a therapeutic target for intrahepatic cholangiocarcinoma via the integration of bioinformatics analysis and experimental validation.
      Title: INTS8 is a therapeutic target for intrahepatic cholangiocarcinoma via the integration of bioinformatics analysis and experimental validation.
    2. Integrator Recruits Protein Phosphatase 2A to Prevent Pause Release and Facilitate Transcription Termination.
      Title: Integrator Recruits Protein Phosphatase 2A to Prevent Pause Release and Facilitate Transcription Termination.
    3. Mutations INTS8 cause a severe neurodevelopmental syndrome. INTS8 mutations lead in vitro to instability of the complex and impaired function.
      Title: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
    MedGen: C5231415 OMIM: 618572 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20530, MGC131633

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription elongation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in snRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in snRNA processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in snRNA processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of integrator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of integrator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of integrator complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    integrator complex subunit 8
    Names
    protein kaonashi-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047163.1 RefSeqGene

      Range
      14977..73436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017864.4 → NP_060334.2  integrator complex subunit 8

      See identical proteins and their annotated locations for NP_060334.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.
      Source sequence(s)
      AB161944, AP003692, BC136754, DA644524
      Consensus CDS
      CCDS34925.1
      UniProtKB/Swiss-Prot
      B2RN92, Q5RKZ3, Q6P1R5, Q75QN2, Q7Z314, Q9NVS6, Q9NWY7
      UniProtKB/TrEMBL
      B3KRB0
      Related
      ENSP00000430338.1, ENST00000523731.6

    RNA

    1. NR_073444.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon and contains two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB161944, AP003692, BC144396, DA644524

    2. NR_073445.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB161944, AP003692, BC144396, BC144397, DA644524, DA763041

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      94823287..94881746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421951.1 → XP_047277907.1  integrator complex subunit 8 isoform X1

    2. XM_047421952.1 → XP_047277908.1  integrator complex subunit 8 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      95948260..96006732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360786.1 → XP_054216761.1  integrator complex subunit 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q75QN2.1 GenPept UniProtKB/Swiss-Prot:Q75QN2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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