TRIM51

protein-coding

tripartite motif-containing 51, the group of Tripartite motif family|Ring finger proteins

Gene summary

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

SPRYD5

MANE transcript

NM_032681.4

Inheritance

—

ClinVar variants

U:70

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.89

Max pathogenic AF

—

Genomic locus

chr11:55,883,297-55,891,810

External References & Databases

Ensembl (ENSG00000124900)

Transcript & Mutation Effects

hg38 • Region Span ~8.5 kb

Loading mutation effect viewer...

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 TRIM51 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 69

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032681.4. 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			70 clinvar			70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	0	0	70

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032681.4	RefSeq	NP_116070.2	6	MANE Select
ENST00000449290.6	Ensembl	ENSP00000395086.2	6	MANE Select
ENST00000244891.3	Ensembl	ENSP00000244891.3	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

zinc ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000449290
Coding exons: 6
Length: 8514
Individuals with no LoFs: 124130
Homozygous LoFs: 22
Heterozygous LoFs: 1432
Defined: 125584
p: 0.00581

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.14	287	238	1.21	0.0000118	3002
Missense (PolyPhen)		50	51.395	0.97287		709
Synonymous	-2.04	107	83.3	1.28	0.00000406	805
Loss of Function	0.399	13	14.6	0.887	7.02e-7	180

Population LoF Frequency

Population	CAF	p-value	Status
African	0.082	0.076	notable
Latino/Admixed American	0.0041	0.0041	notable
Ashkenazi Jewish	0.0020	0.0020	notable
East Asian	0.00016	0.00016	rare
Finnish	0.00049	0.00046	rare
European (Non-Finnish)	0.00052	0.00049	rare
South Asian	0.00049	0.00046	rare
Other	0.0030	0.0029	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0758

Essentials

Essential (gene trap): N

Gene Damage Prediction

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