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    INTS12 integrator complex subunit 12 [ Homo sapiens (human) ]

    Gene ID: 57117, updated on 10-Dec-2024

    Summary

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    Official Symbol
    INTS12provided by HGNC
    Official Full Name
    integrator complex subunit 12provided by HGNC
    Primary source
    HGNC:HGNC:25067
    See related
    Ensembl:ENSG00000138785 MIM:611355; AllianceGenome:HGNC:25067
    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
    INT12; PHF22; SBBI22
    Summary
    INTS12 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 thyroid (RPKM 6.3), bone marrow (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INTS12 in Genome Data Viewer
    Location:
    4q24
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (105682627..105708689, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (108993748..109019869, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (106603784..106629846, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377352 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:106476385-106476934 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:106477486-106478035 Neighboring gene ARHGEF38 intronic transcript 1 Neighboring gene Rho guanine nucleotide exchange factor 38 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21783 Neighboring gene uncharacterized LOC124900748 Neighboring gene uncharacterized LOC124900747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21784 Neighboring gene glutathione S-transferase C-terminal domain containing Neighboring gene ReSE screen-validated silencer GRCh37_chr4:106703288-106703493 Neighboring gene uncharacterized LOC107986190 Neighboring gene GSTCD antisense RNA 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
    • 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. Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways. Kheirallah AK, et al. BMC Genomics, 2017 Mar 23. PMID 28335732, Free PMC Article
    2. GSTCD and INTS12 regulation and expression in the human lung. Obeidat M, et al. PLoS One, 2013. PMID 24058608, Free PMC Article
    3. Structure of the catalytic core of the Integrator complex. Pfleiderer MM, et al. Mol Cell, 2021 Mar 18. PMID 33548203, 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. 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

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. INTS12 activities on a genome-wide scale
      Title: Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways.
    2. In fixed sections of human lung tissue, GSTCD protein expression was ubiquitous, whereas INTS12 expression was predominantly in epithelial cells and pneumocytes.
      Title: GSTCD and INTS12 regulation and expression in the human lung.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
    4. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
    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

    EBI GWAS Catalog

    Description
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of integrator complex subunit 12 (INTS12; SBBI22) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells 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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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 12
    Names
    PHD finger protein 22
    hypothetical nuclear factor SBBI22

    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_001142471.2 → NP_001135943.1  integrator complex subunit 12

      See identical proteins and their annotated locations for NP_001135943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) omits an alternate exon in the 5'UTR. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK314939, BK005729
      Consensus CDS
      CCDS3671.1
      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71
      Related
      ENSP00000415433.2, ENST00000451321.6
      Conserved Domains (1) summary
      cd15501
      Location:161 → 212
      PHD_Int12; PHD finger found in integrator complex subunit 12 (Int12) and similar proteins

    2. NM_020395.4 → NP_065128.2  integrator complex subunit 12

      See identical proteins and their annotated locations for NP_065128.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) includes an alternate exon in the 5'UTR. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK314939, BC014442
      Consensus CDS
      CCDS3671.1
      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71
      Related
      ENSP00000340737.5, ENST00000340139.10
      Conserved Domains (1) summary
      cd15501
      Location:161 → 212
      PHD_Int12; PHD finger found in integrator complex subunit 12 (Int12) and similar proteins

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      105682627..105708689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532145.3 → XP_011530447.1  integrator complex subunit 12 isoform X1

      See identical proteins and their annotated locations for XP_011530447.1

      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71
      Conserved Domains (1) summary
      cd15501
      Location:161 → 212
      PHD_Int12; PHD finger found in integrator complex subunit 12 (Int12) and similar proteins

    2. XM_005263148.6 → XP_005263205.1  integrator complex subunit 12 isoform X1

      See identical proteins and their annotated locations for XP_005263205.1

      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71
      Related
      ENSP00000378221.1, ENST00000394735.5
      Conserved Domains (1) summary
      cd15501
      Location:161 → 212
      PHD_Int12; PHD finger found in integrator complex subunit 12 (Int12) and similar proteins

    3. XM_011532143.3 → XP_011530445.1  integrator complex subunit 12 isoform X1

      See identical proteins and their annotated locations for XP_011530445.1

      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71
      Conserved Domains (1) summary
      cd15501
      Location:161 → 212
      PHD_Int12; PHD finger found in integrator complex subunit 12 (Int12) and similar proteins

    4. XM_047415991.1 → XP_047271947.1  integrator complex subunit 12 isoform X1

      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71

    RNA

    1. XR_007057947.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      108993748..109019869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350555.1 → XP_054206530.1  integrator complex subunit 12 isoform X1

      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71

    2. XM_054350556.1 → XP_054206531.1  integrator complex subunit 12 isoform X1

      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71

    3. XM_054350554.1 → XP_054206529.1  integrator complex subunit 12 isoform X1

      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71

    4. XM_054350557.1 → XP_054206532.1  integrator complex subunit 12 isoform X1

      UniProtKB/Swiss-Prot
      B2RC48, Q3B6Z3, Q96CB8, Q9HD71

    RNA

    1. XR_008487020.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CB8.1 GenPept UniProtKB/Swiss-Prot:Q96CB8

    Gene LinkOut

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