UNC50

protein-coding

unc-50 inner nuclear membrane RNA binding protein

Gene summary

Predicted to enable RNA binding activity. Predicted to be involved in protein localization to cell surface. Predicted to be located in nuclear inner membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_014044.7

Inheritance

ClinVar variants

U:35B:2

Top phenotype

UNC50-related disorder

gnomAD constraint

pLI —, LoF o/e 0.56

Max pathogenic AF

—

Genomic locus

chr2:98,608,579-98,618,515

External References & Databases

Ensembl (ENSG00000115446)

Transcript & Mutation Effects

hg38 • Region Span ~9.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

congenital myasthenic syndromeMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0018940

Submitter: PanelApp Australia

arthrogryposis multiplex congenitaMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0015168

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UNC50 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 30

UNC50-related disorderTotal: 4

Arthrogryposis multiplex congenitaTotal: 2

not providedTotal: 1

Fetal akinesia deformation sequence 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014044.7. 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				1 clinvar		1
missense			33 clinvar		1 clinvar	34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	35	1	1	37

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 67 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014044.7	RefSeq	NP_054763.2	5	MANE Select
ENST00000357765.7	Ensembl	ENSP00000350409.2	5	MANE Select
NM_001330353.2	RefSeq	NP_001317282.1	5	Standard
NM_001330354.2	RefSeq	NP_001317283.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein transport

Molecular Function

RNA binding

Cellular Component

nuclear inner membrane
integral component of Golgi membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357765
Coding exons: 5
Length: 9937
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 125748
p: 0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.941	107	138	0.775	0.00000730	1678
Missense (PolyPhen)		37	57.209	0.64675		711
Synonymous	0.210	52	54.0	0.964	0.00000296	514
Loss of Function	1.54	8	14.3	0.561	8.71e-7	147

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00018	0.00018	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.519
RVIS EVS: 0.08
RVIS percentile EVS: 59.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.508

Gene Damage Prediction

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