TRIM62

protein-coding

tripartite motif containing 62, the group of Tripartite motif family|Ring finger proteins

Gene summary

Enables identical protein binding activity; transcription coactivator activity; and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of viral transcription; positive regulation of antifungal innate immune response; and positive regulation of canonical NF-kappaB signal transduction. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_018207.3

Inheritance

—

ClinVar variants

U:67B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr1:33,145,399-33,182,059

External References & Databases

Ensembl (ENSG00000116525)

Transcript & Mutation Effects

hg38 • Region Span ~36.7 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 TRIM62 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 65

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018207.3. 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			2 clinvar	4 clinvar	1 clinvar	7
missense			65 clinvar	1 clinvar	1 clinvar	67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	5	2	74

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018207.3	RefSeq	NP_060677.2	5	MANE Select
ENST00000291416.10	Ensembl	ENSP00000291416.5	5	MANE Select
NM_001330483.2	RefSeq	NP_001317412.1	5	Standard
ENST00000543586.1	Ensembl	ENSP00000441173.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cytokine Signaling in Immune system
Immune System
Interferon gamma signaling
Interferon Signaling

Biological Process

negative regulation of epithelial to mesenchymal transition
protein ubiquitination
negative regulation of viral transcription
positive regulation of I-kappaB kinase/NF-kappaB signaling
innate immune response

Molecular Function

ubiquitin-protein transferase activity
zinc ion binding

Cellular Component

cytoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000291416
Coding exons: 5
Length: 36658
Individuals with no LoFs: 125714
Homozygous LoFs: 0
Heterozygous LoFs: 34
Defined: 125748
p: 0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.58	225	302	0.744	0.0000199	3057
Missense (PolyPhen)		84	125.84	0.66754		1274
Synonymous	0.493	130	137	0.946	0.00000945	948
Loss of Function	1.03	14	18.8	0.745	8.84e-7	201

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000072	0.000062	rare
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.00031	0.00018	rare
European (Non-Finnish)	0.000092	0.000088	rare
South Asian	0.00023	0.00023	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: E3 ubiquitin ligase whose activity is dependent on E2 ubiquitin-conjugating enzyme UBE2D2. {ECO:0000269|PubMed:23402750}.;

Recessive Scores

pRec: 0.112

Intolerance Scores

LoFtool: 0.581
RVIS EVS: -0.31
RVIS percentile EVS: 32.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.418

Gene Damage Prediction

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