Gene Gene information from NCBI Gene database.
Entrez ID 267004
Gene name PiggyBac transposable element derived 3
Gene symbol PGBD3
Synonyms (NCBI Gene)
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Chromosome 10
Chromosome location 10q11.23
Summary This gene is a member of a small family of genes derived from piggyBac transposable elements. The encoded protein contains a zinc-ribbon domain characteristic of transposon-derived proteins and may function as a regulator of transcription. Alternative spl
miRNA miRNA information provided by mirtarbase database.
22
miRTarBase ID miRNA Experiments Reference
MIRT1227214 hsa-miR-129-5p CLIP-seq
MIRT1227215 hsa-miR-221 CLIP-seq
MIRT1227216 hsa-miR-222 CLIP-seq
MIRT1227217 hsa-miR-3163 CLIP-seq
MIRT1227218 hsa-miR-4282 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IEA
GO:0043565 Function Sequence-specific DNA binding IBA
GO:0043565 Function Sequence-specific DNA binding IDA 22483866
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC 19400 N/A
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N328
Protein name PiggyBac transposable element-derived protein 3
Protein function Binds in vitro to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF. {ECO:0000269|PubMed:2248
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13843 DDE_Tnp_1_7 141 499 Transposase IS4 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart and oocytes, but not in granulosa cells (at protein level). {ECO:0000269|PubMed:26218421}.
Sequence
Sequence length 593
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebrooculofacioskeletal syndrome 1 Uncertain significance rs370101518 RCV001199238
PGBD3-related disorder Likely benign rs751839495, rs373174504, rs201468099 RCV003919625
RCV003907308
RCV003971697
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cockayne Syndrome Associate 22483866
Primary Ovarian Insufficiency Associate 26218421
UV Sensitive Syndrome Associate 22483866