TRIM50

protein-coding

tripartite motif containing 50, the group of Tripartite motif family|Ring finger proteins

Gene summary

Enables identical protein binding activity. Predicted to be involved in innate immune response. Predicted to act upstream of or within regulation of establishment of protein localization. Predicted to be located in aggresome. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

TRIM50A

MANE transcript

NM_178125.3

Inheritance

—

ClinVar variants

U:101B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.84

Max pathogenic AF

—

Genomic locus

chr7:73,312,536-73,328,082

External References & Databases

Ensembl (ENSG00000146755)

Transcript & Mutation Effects

hg38 • Region Span ~15.5 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 TRIM50 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 105

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178125.3. 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	3 clinvar	1 clinvar	5
missense			100 clinvar	6 clinvar		106
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	101	9	1	111

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178125.3	RefSeq	NP_835226.2	6	MANE Select
ENST00000333149.7	Ensembl	ENSP00000327994.2	6	MANE Select
NM_001281450.1	RefSeq	NP_001268379.1	6	Standard
NM_001281451.1	RefSeq	NP_001268380.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Immune System
Adaptive Immune System
Antigen processing: Ubiquitination & Proteasome degradation
Class I MHC mediated antigen processing & presentation

Biological Process

regulation of establishment of protein localization

Molecular Function

zinc ion binding
transferase activity
identical protein binding

Cellular Component

cytosol
aggresome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000333149
Coding exons: 6
Length: 15551
Individuals with no LoFs: 124943
Homozygous LoFs: 7
Heterozygous LoFs: 798
Defined: 125748
p: 0.00321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.127	299	305	0.980	0.0000204	3122
Missense (PolyPhen)		101	112.04	0.90145		1245
Synonymous	-1.51	156	134	1.17	0.00000901	995
Loss of Function	0.685	17	20.3	0.836	0.00000115	200

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00060	0.00055	rare
Latino/Admixed American	0.0020	0.0019	notable
Ashkenazi Jewish	0.014	0.013	notable
East Asian	0.00056	0.00054	rare
Finnish	0.000052	0.000046	rare
European (Non-Finnish)	0.0026	0.0024	notable
South Asian	0.010	0.0099	notable
Other	0.0026	0.0024	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: E3 ubiquitin-protein ligase that ubiquitinates Beclin- 1/BECN1 in a 'Lys-63'-dependent manner enhancing its binding to ULK1. In turn, promotes starvation-induced autophagy activation. Interacts also with p62/SQSTM1 protein and thereby induces the formation and the autophagy clearance of aggresome-associated polyubiquitinated proteins through HDAC6 interaction. {ECO:0000269|PubMed:18398435, ECO:0000269|PubMed:22792322, ECO:0000269|PubMed:29604308}.;

Intolerance Scores

LoFtool: 0.483
RVIS EVS: -0.44
RVIS percentile EVS: 24.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.383

Gene Damage Prediction

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