TRIM47

protein-coding

tripartite motif containing 47, the group of Tripartite motif family|Ring finger proteins

Gene summary

Enables ubiquitin protein ligase activity. Involved in protein ubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_033452.3

Inheritance

ClinVar variants

U:124B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.45

Max pathogenic AF

—

Genomic locus

chr17:75,874,164-75,878,581

External References & Databases

Ensembl (ENSG00000132481)

Transcript & Mutation Effects

hg38 • Region Span ~4.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

genetic cerebral small vessel diseaseLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0018787

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TRIM47 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 123

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_033452.3. 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	2 clinvar		4
missense			119 clinvar	3 clinvar		122
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	124	5	0	129

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_033452.3	RefSeq	NP_258411.2	6	MANE Select
ENST00000254816.6	Ensembl	ENSP00000254816.1	6	MANE Select
ENST00000585333.1	Ensembl	ENSP00000467645.1	2	Standard
ENST00000586495.1	Ensembl	ENSP00000465038.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein ubiquitination

Molecular Function

ubiquitin-protein transferase activity
zinc ion binding
ligase activity

Cellular Component

nucleus
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000254816
Coding exons: 6
Length: 4415
Individuals with no LoFs: 125691
Homozygous LoFs: 0
Heterozygous LoFs: 48
Defined: 125739
p: 0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.572	284	312	0.909	0.0000192	4023
Missense (PolyPhen)		119	136.95	0.86892		1647
Synonymous	2.00	107	137	0.782	0.00000844	1380
Loss of Function	2.26	9	19.9	0.453	0.00000103	233

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0.0010	0.00099	notable
East Asian	0.00082	0.00082	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00010	0.000098	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD. {ECO:0000269|PubMed:29291351}.;

Recessive Scores

pRec: 0.155

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.879

Gene Damage Prediction

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