NRDE2

protein-coding

NRDE-2, necessary for RNA interference, domain containing

Gene summary

Involved in several processes, including RNA splicing; mRNA stabilization; and positive regulation of RNA export from nucleus. Located in mitochondrion; nuclear speck; and nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf102

MANE transcript

NM_017970.4

Inheritance

—

ClinVar variants

U:200B:11

Top phenotype

Autism spectrum disorder

gnomAD constraint

pLI —, LoF o/e 0.57

Max pathogenic AF

—

Genomic locus

chr14:90,267,860-90,331,969

External References & Databases

Ensembl (ENSG00000119720)

Transcript & Mutation Effects

hg38 • Region Span ~64.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NRDE2 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 195

not providedTotal: 5

Autism spectrum disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017970.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	2 clinvar		6
missense			195 clinvar	8 clinvar	1 clinvar	204
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	200	10	1	211

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017970.4	RefSeq	NP_060440.2	14	MANE Select
ENST00000354366.8	Ensembl	ENSP00000346335.3	14	MANE Select
ENST00000553409.5	Ensembl	ENSP00000451025.1	2	Standard
ENST00000554464.1	Ensembl	ENSP00000452071.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process
RNA interference
chromatin silencing by small RNA

Molecular Function

molecular_function

Cellular Component

cellular_component

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000354366
Coding exons: 14
Length: 55902
Individuals with no LoFs: 125459
Homozygous LoFs: 0
Heterozygous LoFs: 289
Defined: 125748
p: 0.00115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.168	631	643	0.981	0.0000347	7686
Missense (PolyPhen)		128	154.44	0.82882		1943
Synonymous	0.00354	253	253	1.00	0.0000147	2182
Loss of Function	2.99	33	57.5	0.574	0.00000314	645

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00070	0.00069	rare
Ashkenazi Jewish	0.00040	0.00040	rare
East Asian	0.00071	0.00071	rare
Finnish	0.0066	0.0066	notable
European (Non-Finnish)	0.00061	0.00061	rare
South Asian	0.00089	0.00088	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0983

Intolerance Scores

RVIS EVS: 0.28
RVIS percentile EVS: 70.88

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium