PGBD5

Chr 1q42.13

piggyBac transposable element derived 5

Aliases:: DKFZp761A0620, FLJ11413
MANE:: ENST00000391860.7

OMIM: 616791 ↗NCBI: 79605 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PGBD5 · Q8N414

v62025-08-01

Predicted Aligned Error matrix for PGBD5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.6/ 100

Confident

524 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)16%
Low(50–70)10%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

alcohol drinking
0.36
systemic lupus erythematosus
0.32
pathological myopia
0.31
jaw disease
0.31
stroke disorder
0.29
urolithiasis
0.27
neurodegenerative disease
0.26
tooth disorder
0.18
neoplasm
0.09
rhabdoid tumor
0.08

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

Protein function (UniProt)

PiggyBac transposable element-derived protein 5

Transposase that mediates sequence-specific genomic rearrangements (PubMed:26406119, PubMed:28504702). Can induce genomic rearrangements that inactivate the HPRT1 gene (PubMed:27491780)