TRIM48

protein-coding

tripartite motif containing 48, the group of Tripartite motif family|Ring finger proteins

Gene summary

Enables ubiquitin protein ligase activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_024114.5

Inheritance

—

ClinVar variants

U:51B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 2.23

Max pathogenic AF

—

Genomic locus

chr11:55,262,155-55,271,114

External References & Databases

Ensembl (ENSG00000150244)

Transcript & Mutation Effects

hg38 • Region Span ~9.0 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 TRIM48 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024114.5. 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			51 clinvar			51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	1	0	52

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024114.5	RefSeq	NP_077019.2	5	MANE Select
ENST00000417545.5	Ensembl	ENSP00000402414.2	5	MANE Select

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

Molecular Function

zinc ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000417545
Coding exons: 5
Length: 8938
Individuals with no LoFs: 123049
Homozygous LoFs: 28
Heterozygous LoFs: 98
Defined: 123175
p: 0.000512

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-3.49	220	115	1.92	0.00000548	1474
Missense (PolyPhen)		24	18.924	1.2682		261
Synonymous	-4.52	78	41.1	1.90	0.00000206	389
Loss of Function	-4.25	31	13.9	2.23	7.81e-7	144

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0010	0.00087	notable
Latino/Admixed American	0.00059	0.00056	rare
Ashkenazi Jewish	0.00060	0.00050	rare
East Asian	0.00046	0.00040	rare
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00047	0.00038	rare
South Asian	0.0017	0.0012	notable
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.475
RVIS EVS: 1.84
RVIS percentile EVS: 97.09

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.987

Gene Damage Prediction

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