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    NSUN5P2 NSUN5 pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 260294, updated on 25-Jan-2024

    Summary

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    Official Symbol
    NSUN5P2provided by HGNC
    Official Full Name
    NSUN5 pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:16609
    See related
    Ensembl:ENSG00000290831 AllianceGenome:HGNC:16609
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NOL1R2; NSUN5C; WBSCR20B; WBSCR20C
    Summary
    This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in duodenum (RPKM 35.4), appendix (RPKM 32.8) and 25 other tissues See more
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    Genomic context

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    Location:
    7q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (72948293..72954763, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74176523..74182992, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72418832..72425302, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 625, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:72339695-72339882 Neighboring gene speedy/RINGO cell cycle regulator family member E7, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72349748-72350248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26120 Neighboring gene POM121 transmembrane nucleoporin Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72395219-72395780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72395781-72396341 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:72396775-72397974 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:72404605-72404795 Neighboring gene uncharacterized LOC124901671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72431501-72432053 Neighboring gene tripartite motif containing 74 Neighboring gene FKBP6 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
    • 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. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Doll A, et al. Cytogenet Cell Genet, 2001. PMID 11978965
    2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, et al. Hum Genet, 2002 May. PMID 12073013
    3. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Arking DE, et al. Nat Genet, 2014 Aug. PMID 24952745, Free PMC Article
    4. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
    5. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • NOL1/NOP2/Sun domain family, member 5C
    • NOP2/Sun RNA methyltransferase family member 5 pseudogene 2
    • NOP2/Sun domain family, member 5 pseudogene 2
    • NOP2/Sun domain family, member 5C (pseudogene)
    • Williams Beuren syndrome chromosome region 20C

    Clone Names

    • FLJ11626, MGC15057, MGC129801, DKFZp434K058, DKFZp666P104

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in rRNA base methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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.

    RNA

    1. NR_033323.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF416611, AK021688, BC007488, BC082753, DA017627
      Related
      ENST00000388955.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      72948293..72954763 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74176523..74182992 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039487.1: Suppressed sequence

      Description
      NM_001039487.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NM_148936.2: Suppressed sequence

      Description
      NM_148936.2: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    3. NM_148980.1: Suppressed sequence

      Description
      NM_148980.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    4. NM_149379.1: Suppressed sequence

      Description
      NM_149379.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q63ZY6.2 GenPept UniProtKB/Swiss-Prot:Q63ZY6

    Gene LinkOut

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

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