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NSUN5P2 NSUN5 pseudogene 2 [ Homo sapiens (human) ]

Gene ID: 260294, updated on 25-Jan-2022

Summary

Official Symbol
NSUN5P2provided by HGNC
Official Full Name
NSUN5 pseudogene 2provided by HGNC
Primary source
HGNC:HGNC:16609
See related
Ensembl:ENSG00000106133 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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (72948293..72954763, complement)
105.20201022 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 speedy/RINGO cell cycle regulator family member E7, pseudogene Neighboring gene POM121 transmembrane nucleoporin Neighboring gene tripartite motif containing 74 Neighboring gene FKBP prolyl isomerase 6 pseudogene Neighboring gene stromal antigen 3-like 3 (pseudogene)

Genomic regions, transcripts, and products

Expression

  • 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

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

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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    72948293..72954763 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.
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