PGBD3 (piggyBac transposable element derived 3)

Gene

• Entrez ID: 267004
• Gene name: PiggyBac transposable element derived 3
• Gene symbol: PGBD3
• Synonyms (NCBI Gene): -
• 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

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
MIRT1227219	hsa-miR-4307	CLIP-seq
MIRT1227220	hsa-miR-4452	CLIP-seq
MIRT1227221	hsa-miR-450b-5p	CLIP-seq
MIRT1227222	hsa-miR-4704-5p	CLIP-seq
MIRT1227223	hsa-miR-4709-3p	CLIP-seq
MIRT1227224	hsa-miR-507	CLIP-seq
MIRT1227225	hsa-miR-548a-3p	CLIP-seq
MIRT1227226	hsa-miR-548aa	CLIP-seq
MIRT1227227	hsa-miR-548e	CLIP-seq
MIRT1227228	hsa-miR-548f	CLIP-seq
MIRT1227229	hsa-miR-548v	CLIP-seq
MIRT1227230	hsa-miR-557	CLIP-seq
MIRT1227231	hsa-miR-568	CLIP-seq
MIRT1227215	hsa-miR-221	CLIP-seq
MIRT1227216	hsa-miR-222	CLIP-seq
MIRT1227226	hsa-miR-548aa	CLIP-seq
MIRT1227229	hsa-miR-548v	CLIP-seq

Gene ontology (GO)

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

• MIM: HGNC
• HGNC: 19400
• e!Ensembl: N/A

Protein

• UniProt ID: 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:

  MPRTLSLHEITDLLETDDSIEASAIVIQPPENATAPVSDEESGDEEGGTINNLPGSLLHT
  AAYLIQDGSDAESDSDDPSYAPKDDSPDEVPSTFTVQQPPPSRRRKMTKILCKWKKADLT
  VQPVAGRVTAPPNDFFTVMRTPTEILELFLDDEVIELIVKYSNLYACSKGVHLGLTSSEF
  KCFLGIIFLSGYVSVPRRRMFWEQRTDVHNVLVSAAMRRDRFETIFSNLHVADNANLDPV
  DKFSKLRPLISKLNERCMKFVPNETYFSFDEFMVPYFGRHGCKQFIRGKPIRFGYKFWCG
  ATCLGYICWFQPYQGKNPNTKHEEYGVGASLVLQFSEALTEAHPGQYHFVFNNFFTSIAL
  LDKLSSMGHQATGTVRKDHIDRVPLESDVALKKKERGTFDYRIDGKGNIVCRWNDNSVVT
  VASSGAGIHPLCLVSRYSQKLKKKIQVQQPNMIKVYNQFMGGVDRADENIDKYRASIRGK
  KWYSSPLLFCFELVLQNAWQLHKTYDEKPVDFLEFRRRVVCHYLETHGHPPEPGQKGRPQ
  KRNIDSRYDGINHVIVKQGKQTRCAECHKNTTFRCEKCDVALHVKCSVEYHTE

• Sequence length: 593

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Cerebrooculofacioskeletal syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COCKAYNE SYNDROME, TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DE SANCTIS-CACCHIONE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PGBD3-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREMATURE OVARIAN FAILURE 11	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-SENSITIVE SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cockayne Syndrome	Cockayne syndrome	Pubtator	22483866	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	23028371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	23028371		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30556603		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only