NSUN5P2 NSUN5 pseudogene 2 [Homo sapiens (human)] - Gene

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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 EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2868 (e-PCR)
- UniSTS:77571

WI-20883 (e-PCR)
- UniSTS:74519

STS-W72988 (e-PCR)
- UniSTS:23852

NoName (e-PCR)
- UniSTS:487216

GDB:4584996 (e-PCR)
- UniSTS:2609

GDB:4585440 (e-PCR)
- UniSTS:6194

GDB:4585069 (e-PCR)
- UniSTS:81766

NoName (e-PCR)
- UniSTS:483688

SHGC-132050 (e-PCR)
- UniSTS:170615

RH10987 (e-PCR)
- UniSTS:40378

RH104432 (e-PCR)
- UniSTS:98757

D7S3263 (e-PCR)
- UniSTS:254163

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

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

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

72948293..72954763 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.
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.
NM_148980.1: Suppressed sequence

Description

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