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    INTS2 integrator complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 57508, updated on 14-Nov-2024

    Summary

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    Official Symbol
    INTS2provided by HGNC
    Official Full Name
    integrator complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:29241
    See related
    Ensembl:ENSG00000108506 MIM:611346; AllianceGenome:HGNC:29241
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    INT2; KIAA1287
    Summary
    INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in testis (RPKM 3.6), lymph node (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INTS2 in Genome Data Viewer
    Location:
    17q23.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (61865367..61927982, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (62734308..62796936, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59942728..60005343, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7395 Neighboring gene nascent polypeptide associated complex subunit alpha 2 Neighboring gene BRCA1 interacting DNA helicase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:59835525-59836270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12535 Neighboring gene VISTA enhancer hs778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8802 Neighboring gene mediator complex subunit 13 Neighboring gene RNA, 7SL, cytoplasmic 800, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr17:60114488-60114673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:60178273-60178878 Neighboring gene NANOG hESC enhancer GRCh37_chr17:60183965-60184527 Neighboring gene NANOG hESC enhancer GRCh37_chr17:60198431-60198956 Neighboring gene RNA polymerase mitochondrial pseudogene 1

    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 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. Integrator: surprisingly diverse functions in gene expression. Baillat D, et al. Trends Biochem Sci, 2015 May. PMID 25882383, Free PMC Article
    2. Integrator complex and transcription regulation: Recent findings and pathophysiology. Rienzo M, et al. Biochim Biophys Acta, 2016 Oct. PMID 27427483
    3. Genetic alterations and their clinical implications in gastric cancer peritoneal carcinomatosis revealed by whole-exome sequencing of malignant ascites. Lim B, et al. Oncotarget, 2016 Feb 16. PMID 26811494, Free PMC Article
    4. 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
    5. 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

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutation in INTS2 gene is associated with gastric cancer peritoneal carcinomatosis.
      Title: Genetic alterations and their clinical implications in gastric cancer peritoneal carcinomatosis revealed by whole-exome sequencing of malignant ascites.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag interacts with INTS2 as demonstrated by proximity dependent biotinylation proteomics PubMed

    Go to the HIV-1, Human Interaction Database

    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

    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
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 membrane HDA PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_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 2

    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.

    mRNA and Protein(s)

    1. NM_001330417.2 → NP_001317346.2  integrator complex subunit 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC060798
      Consensus CDS
      CCDS82181.1
      UniProtKB/TrEMBL
      B4DQZ5, J3KMZ7
      Related
      ENSP00000496407.1, ENST00000647009.1
      Conserved Domains (1) summary
      pfam14750
      Location:26 → 1129
      INTS2; Integrator complex subunit 2

    2. NM_001351695.2 → NP_001338624.2  integrator complex subunit 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC060798
      Consensus CDS
      CCDS82181.1
      UniProtKB/TrEMBL
      B4DQZ5, J3KMZ7
      Related
      ENSP00000251334.6, ENST00000251334.7
      Conserved Domains (1) summary
      pfam14750
      Location:26 → 1129
      INTS2; Integrator complex subunit 2

    3. NM_020748.4 → NP_065799.2  integrator complex subunit 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC060798
      Consensus CDS
      CCDS45750.1
      UniProtKB/Swiss-Prot
      Q9H0H0, Q9ULD3
      UniProtKB/TrEMBL
      B4DQZ5
      Related
      ENSP00000414237.3, ENST00000444766.7
      Conserved Domains (1) summary
      pfam14750
      Location:34 → 1137
      INTS2; Integrator complex subunit 2

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      61865367..61927982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_934509.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      62734308..62796936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008484865.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0H0.2 GenPept UniProtKB/Swiss-Prot:Q9H0H0

    Gene LinkOut

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

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