Gene Gene information from NCBI Gene database.
Entrez ID 79605
Gene name PiggyBac transposable element derived 5
Gene symbol PGBD5
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q42.13
Summary 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
miRNA miRNA information provided by mirtarbase database.
140
miRTarBase ID miRNA Experiments Reference
MIRT633544 hsa-miR-335-5p HITS-CLIP 23824327
MIRT633543 hsa-miR-500b-3p HITS-CLIP 23824327
MIRT633542 hsa-miR-5693 HITS-CLIP 23824327
MIRT633541 hsa-miR-6773-3p HITS-CLIP 23824327
MIRT633540 hsa-miR-215-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IEA
GO:0004803 Function Transposase activity IBA
GO:0004803 Function Transposase activity IDA 26406119
GO:0004803 Function Transposase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616791 19405 ENSG00000177614
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N414
Protein name PiggyBac transposable element-derived protein 5 (EC 3.1.-.-) (PiggyBac domain-related protein 5) (PiggyBac transposase 5)
Protein function Transposase that mediates sequence-specific genomic rearrangements (PubMed:26406119, PubMed:28504702). Can induce genomic rearrangements that inactivate the HPRT1 gene (PubMed:27491780). {ECO:0000269|PubMed:26406119, ECO:0000269|PubMed:27491780,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13843 DDE_Tnp_1_7 121 487 Transposase IS4 Domain
Sequence
Sequence length 524
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Thyroid Cancer Papillary Associate 36211409
★☆☆☆☆
Found in Text Mining only