TRIM45
protein-codingtripartite motif containing 45, the group of Tripartite motif family|Ring finger proteins
Gene summary
Enables ubiquitin protein ligase activity. Involved in negative regulation of inflammatory response; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein K48-linked ubiquitination. Located in cytosol and nucleoplasm. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~11.5 kbGenCC 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 TRIM45 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_025188.4. 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 | 2 | 2 | ||||
| missense | 89 | 8 | 97 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 91 | 8 | 0 | 99 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_079464.2 | 6 | MANE Select | |
| Ensembl | ENSP00000256649.4 | 6 | MANE Select | |
| RefSeq | NP_001139107.1 | 6 | Standard | |
| Ensembl | ENSP00000358473.3 | 7 | 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
- bone development
Molecular Function
- zinc ion binding
Cellular Component
- nucleoplasm
- cytosol
- intercellular bridge
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000256649
- Coding exons
- 6
- Length
- 11528
- Individuals with no LoFs
- 125244
- Homozygous LoFs
- 4
- Heterozygous LoFs
- 500
- Defined
- 125748
- p
- 0.00201
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.687 | 299 | 334 | 0.894 | 0.0000193 | 3782 |
| Missense (PolyPhen) | 60 | 79.886 | 0.75107 | 938 | ||
| Synonymous | 1.05 | 120 | 136 | 0.885 | 0.00000782 | 1168 |
| Loss of Function | 1.28 | 15 | 21.4 | 0.701 | 0.00000112 | 262 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0023 | 0.0023 | notable |
| Latino/Admixed American | 0.0023 | 0.0022 | notable |
| Ashkenazi Jewish | 0.0052 | 0.0052 | notable |
| East Asian | 0.00028 | 0.00027 | rare |
| Finnish | 0.00065 | 0.00065 | rare |
| European (Non-Finnish) | 0.0021 | 0.0021 | notable |
| South Asian | 0.0021 | 0.0021 | notable |
| Other | 0.0028 | 0.0026 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May act as a transcriptional repressor in mitogen- activated protein kinase signaling pathway. {ECO:0000269|PubMed:15351693}.;
Recessive Scores
- pRec
- 0.0944
Intolerance Scores
- LoFtool
- 0.162
- RVIS EVS
- 1.49
- RVIS percentile EVS
- 95.35
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.102
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | High |