NRDE2 NRDE-2, necessary for RNA interference, domain containing [Homo sapiens (human)] - Gene

Summary

Official Symbol: NRDE2provided by HGNC
Official Full Name: NRDE-2, necessary for RNA interference, domain containingprovided by HGNC
Primary source: HGNC:HGNC:20186
See related: Ensembl:ENSG00000119720 MIM:618631; AllianceGenome:HGNC:20186
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: C14orf102
Summary: Involved in several processes, including RNA splicing; mRNA stabilization; and positive regulation of RNA export from nucleus. Located in nuclear speck and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in duodenum (RPKM 3.4), thyroid (RPKM 3.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.11

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (90267860..90331941, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (84492112..84556677, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (90734204..90798285, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

NRDE2 deficiency impairs homologous recombination repair and sensitizes hepatocellular carcinoma to PARP inhibitors.
Title: NRDE2 deficiency impairs homologous recombination repair and sensitizes hepatocellular carcinoma to PARP inhibitors.
NRDE2 interacts with MTR4's key residues, locks MTR4 in a closed conformation, and inhibits MTR4 interaction with the exosome as well as proteins important for MTR4 recruitment
Title: NRDE2 negatively regulates exosome functions by inhibiting MTR4 recruitment and exosome interaction.
Our work establishes a conserved role for human NRDE2 in RNA splicing, characterizes the severe genomic instability phenotypes observed upon loss of NRDE2, and highlights the direct regulation of CEP131 splicing as one of multiple mechanisms through which such phenotypes might be explained.
Title: Human nuclear RNAi-defective 2 (NRDE2) is an essential RNA splicing factor.
this study found that Mtr4 association with the human homolog of fission yeast Nrl1, NRDE-2, defines a novel function for Mtr4 in the DNA damage response pathway.
Title: NRDE-2, the human homolog of fission yeast Nrl1, prevents DNA damage accumulation in human cells.

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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
Joint influence of small-effect genetic variants on human longevity. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98490 (e-PCR)
- UniSTS:84737

D11S2921 (e-PCR)
- UniSTS:152074

G36256 (e-PCR)
- UniSTS:23054

D8S2278 (e-PCR)
- UniSTS:473906

G35931 (e-PCR)
- UniSTS:49714

G35558 (e-PCR)
- UniSTS:24373

sY3084 (e-PCR)
- UniSTS:515126

G35468 (e-PCR)
- UniSTS:33859

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

G30330 (e-PCR)
- UniSTS:16524

D11S3114 (e-PCR)
- UniSTS:152207

STS-T96622 (e-PCR)
- UniSTS:6800

G36008 (e-PCR)
- UniSTS:44206

WI-15879 (e-PCR)
- UniSTS:35028

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in RNA splicing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of RNA catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of RNA export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulatory ncRNA-mediated heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nuclear exosome regulator NRDE2

Names: UPF0614 protein C14orf102; protein NRDE2 homolog

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)

NM_017970.4 → NP_060440.2 nuclear exosome regulator NRDE2

See identical proteins and their annotated locations for NP_060440.2

Status: VALIDATED

Source sequence(s)

AK294958, AL161662, AL355074, AW196499, BC008925

Consensus CDS

CCDS9890.1

UniProtKB/Swiss-Prot

B4DH71, Q4G0A7, Q9H7Z3, Q9NWH6

UniProtKB/TrEMBL

Q0VFW7

Related

ENSP00000346335.3, ENST00000354366.8

Conserved Domains (1) summary

pfam08424
Location:313 → 645

NRDE-2; necessary for RNA interference

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

90267860..90331941 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

84492112..84556677 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_199043.1: Suppressed sequence

Description

NM_199043.1: This RefSeq was permanently suppressed because the use of the supported start codon for this gene renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).