TRIM8

Chr 10q24.32

tripartite motif containing 8

Aliases:: GERP
MANE:: ENST00000643721.2

OMIM: 606125 ↗NCBI: 81603 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TRIM8 · Q9BZR9

v62025-08-01

Predicted Aligned Error matrix for TRIM8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.0/ 100

Confident

551 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)13%
Low(50–70)6%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

focal segmental glomerulosclerosis and neurodevelopmental syndrome
0.78
Seizure
0.60
epilepsy
0.47
nephrotic syndrome
0.46
hereditary disease
0.41
focal segmental glomerulosclerosis
0.41
Neurodevelopmental delay
0.40
Intellectual disability
0.37
Global developmental delay
0.37
ethylmalonic encephalopathy
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 ubiquitin-protein ligase TRIM8

E3 ubiquitin-protein ligase that participates in multiple biological processes including cell survival, differentiation, apoptosis, and in particular, the innate immune response (PubMed:27981609, PubMed:28747347). Participates in the activation of interferon-gamma signaling by promoting proteasomal degradation of the repressor SOCS1 (PubMed:12163497). Plays a positive role in the TNFalpha and IL-1beta signaling pathways. Mechanistically, induces the 'Lys-63'-linked polyubiquitination of MAP3K7/TAK1 component leading to the activation of NF-kappa-B (PubMed:22084099, PubMed:23152791, PubMed:27981609, PubMed:34871740). Also modulates STAT3 activity through negative regulation of PIAS3, either by degradation of PIAS3 through the ubiquitin-proteasome pathway or exclusion of PIAS3 from the nucleus (PubMed:20516148). Negatively regulates TLR3/4-mediated innate immune response by catalyzing 'Lys-6'- and 'Lys-33'-linked polyubiquitination of TICAM1 and thereby disrupting the TICAM1-TBK1 interaction (PubMed:28747347)