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    NSUN5P2 NSUN5 pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 260294, updated on 10-Dec-2024

    Summary

    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

    See NSUN5P2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (72948293..72954763, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74176523..74182992, complement)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
     
    enables S-adenosylmethionine-dependent methyltransferase activity IEA
    Inferred from Electronic Annotation
    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_2024_08

    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 [email protected] for further information.