MOV10

protein-coding

Mov10 RISC complex RNA helicase, the group of UPF1 like RNA helicases

Gene summary

Enables 5'-3' RNA helicase activity and RNA binding activity. Involved in defense response to virus and mRNA destabilization. Located in P-body. Implicated in hypertension. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001321324.2

Inheritance

—

ClinVar variants

U:128B:14

Top phenotype

MOV10-related disorder

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr1:112,673,141-112,700,756

External References & Databases

Ensembl (ENSG00000155363)

Transcript & Mutation Effects

hg38 • Region Span ~27.6 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 MOV10 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 109

not providedTotal: 11

MOV10-related disorderTotal: 4

Premature ovarian failureTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001321324.2. 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			3 clinvar	2 clinvar	5 clinvar	10
missense			116 clinvar	7 clinvar		123
nonsense			2 clinvar			2
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	128	9	5	142

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 76 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001321324.2	RefSeq	NP_001308253.1	20	MANE Select
ENST00000369645.6	Ensembl	ENSP00000358659.1	20	MANE Select
NM_001130079.3	RefSeq	NP_001123551.1	20	Standard
NM_001286072.2	RefSeq	NP_001273001.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miR-targeted genes in lymphocytes - TarBase
miR-targeted genes in muscle cell - TarBase
miR-targeted genes in squamous cell - TarBase
Competing endogenous RNAs (ceRNAs) regulate PTEN translation
Signal Transduction

Biological Process

Wnt signaling pathway, calcium modulating pathway
negative regulation of transposition, RNA-mediated
positive regulation of gene expression
negative regulation of gene expression
posttranscriptional gene silencing by RNA

Molecular Function

RNA binding
protein binding
ATP binding
ATP-dependent 5'-3' RNA helicase activity

Cellular Component

P-body
extracellular space
nucleus
cytosol
cytoplasmic ribonucleoprotein granule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000413052
Coding exons: 20
Length: 27606
Individuals with no LoFs: 125707
Homozygous LoFs: 0
Heterozygous LoFs: 41
Defined: 125748
p: 0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.76	414	605	0.684	0.0000375	6458
Missense (PolyPhen)		72	149.71	0.48092		1607
Synonymous	2.29	198	243	0.813	0.0000143	2075
Loss of Function	5.20	10	49.5	0.202	0.00000273	543

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00037	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00016	0.00016	rare
Finnish	0.000099	0.000092	rare
European (Non-Finnish)	0.00020	0.00017	rare
South Asian	0.00018	0.00016	rare
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable RNA helicase. Required for miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA- mediated cleavage of complementary mRNAs by RISC. {ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:17507929, ECO:0000269|PubMed:22791714}.;

Recessive Scores

pRec: 0.141

Intolerance Scores

LoFtool: 0.0296
RVIS EVS: -1.68
RVIS percentile EVS: 2.65

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.887

Gene Damage Prediction

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