PGBD2

Chr 1

piggyBac transposable element derived 2

NCBI Gene: 267002 ENSG00000185220 UniProt: Q6P3X8 OMIM: 621245

PGBD2 encodes a transposase protein derived from piggyBac transposable elements, though its exact cellular function remains unknown. The gene is highly constrained against loss-of-function variants (pLI ~0), suggesting it plays an essential role in human biology. Currently, no human diseases have been definitively associated with PGBD2 mutations in the medical literature.

OMIM ResearchSummary from RefSeq

The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.58

Clinical Summary— PGBD2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

109 VUS of 117 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.58LOEUF

pLI 0.000

Z-score -0.47

OE 1.11 (0.79–1.58)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.23Z-score

OE missense 1.04 (0.95–1.13)

349 obs / 337.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.11 (0.79–1.58)

0≤0.351.4

Missense OE?1.04 (0.95–1.13)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 22 / 19.8Missense obs/exp: 349 / 337.1Syn Z: -0.15

ClinVar Variant Classifications

117 submitted variants in ClinVar

ClinVar

Classification Summary

VUS109

Likely Benign1

109

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	109	109
Likely Benign	1	1
Benign	0	0
Total	110	110

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

63 pathogenic / likely-pathogenic (of 73) ClinVar copy-number / structural variants overlap PGBD2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →