TRIM52

protein-coding

tripartite motif containing 52, the group of Tripartite motif family|Ring finger proteins

Gene summary

Enables transcription coactivator activity and ubiquitin protein ligase activity. Involved in defense response to virus; positive regulation of canonical NF-kappaB signal transduction; and protein autoubiquitination. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001346048.2

Inheritance

—

ClinVar variants

U:40B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.11

Max pathogenic AF

—

Genomic locus

chr5:181,254,077-181,261,150

External References & Databases

Ensembl (ENSG00000183718)

Transcript & Mutation Effects

hg38 • Region Span ~7.1 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 TRIM52 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 44

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001346048.2. 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						0
missense			40 clinvar	1 clinvar		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	1	0	41

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001346048.2	RefSeq	NP_001332977.1	2	MANE Select
ENST00000688015.1	Ensembl	ENSP00000508553.1	2	MANE Select
NM_001346049.2	RefSeq	NP_001332978.1	2	Standard
NM_001346050.2	RefSeq	NP_001332979.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of NF-kappaB transcription factor activity

Molecular Function

zinc ion binding

Cellular Component

nuclear body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327767
Coding exons: 2
Length: 6703
Individuals with no LoFs: 125643
Homozygous LoFs: 1
Heterozygous LoFs: 104
Defined: 125748
p: 0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.113	151	155	0.975	0.00000721	1998
Missense (PolyPhen)		36	34.058	1.057		426
Synonymous	0.250	55	57.4	0.958	0.00000274	518
Loss of Function	-0.349	13	11.7	1.11	5.55e-7	131

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00074	0.00074	rare
Latino/Admixed American	0.00049	0.00049	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.0020	0.0020	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00024	0.00023	rare
South Asian	0.00013	0.00013	rare
Other	0.00098	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.736
RVIS EVS: -0.49
RVIS percentile EVS: 22.09

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.964

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High