Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	122618
Gene name	Phospholipase D family member 4
Gene symbol	PLD4
Synonyms (NCBI Gene)	C14orf175
Chromosome	14
Chromosome location	14q32.33

Show/Hide all (41)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016764	hsa-miR-335-5p	Microarray	18185580
MIRT1240306	hsa-miR-1343	CLIP-seq
MIRT1240307	hsa-miR-3179	CLIP-seq
MIRT1240308	hsa-miR-3202	CLIP-seq
MIRT1240309	hsa-miR-3690	CLIP-seq
MIRT1240310	hsa-miR-4254	CLIP-seq
MIRT1240311	hsa-miR-4292	CLIP-seq
MIRT1240312	hsa-miR-4308	CLIP-seq
MIRT1240313	hsa-miR-4721	CLIP-seq
MIRT1240314	hsa-miR-516a-3p	CLIP-seq
MIRT2070665	hsa-miR-1266	CLIP-seq
MIRT2070666	hsa-miR-24	CLIP-seq
MIRT2070667	hsa-miR-3151	CLIP-seq
MIRT1240310	hsa-miR-4254	CLIP-seq
MIRT2070668	hsa-miR-4283	CLIP-seq
MIRT1240311	hsa-miR-4292	CLIP-seq
MIRT1240312	hsa-miR-4308	CLIP-seq
MIRT2070669	hsa-miR-4437	CLIP-seq
MIRT2070670	hsa-miR-4489	CLIP-seq
MIRT2070671	hsa-miR-4518	CLIP-seq
MIRT1240306	hsa-miR-1343	CLIP-seq
MIRT2070667	hsa-miR-3151	CLIP-seq
MIRT2297822	hsa-miR-3689d	CLIP-seq
MIRT1240309	hsa-miR-3690	CLIP-seq
MIRT2297823	hsa-miR-378	CLIP-seq
MIRT2297824	hsa-miR-378b	CLIP-seq
MIRT2297825	hsa-miR-378c	CLIP-seq
MIRT2297826	hsa-miR-378d	CLIP-seq
MIRT2297827	hsa-miR-378e	CLIP-seq
MIRT2297828	hsa-miR-378f	CLIP-seq
MIRT2297829	hsa-miR-378h	CLIP-seq
MIRT2297830	hsa-miR-378i	CLIP-seq
MIRT2297831	hsa-miR-422a	CLIP-seq
MIRT1240310	hsa-miR-4254	CLIP-seq
MIRT2070668	hsa-miR-4283	CLIP-seq
MIRT1240311	hsa-miR-4292	CLIP-seq
MIRT1240312	hsa-miR-4308	CLIP-seq
MIRT2070670	hsa-miR-4489	CLIP-seq
MIRT1240313	hsa-miR-4721	CLIP-seq
MIRT1240314	hsa-miR-516a-3p	CLIP-seq
MIRT2297832	hsa-miR-765	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0004630	Function	Phospholipase D activity	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006259	Process	DNA metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006909	Process	Phagocytosis	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	ISS
GO:0045087	Process	Innate immune response	IEA
GO:0045145	Function	Single-stranded DNA 5'-3' DNA exonuclease activity	IEA
GO:0045145	Function	Single-stranded DNA 5'-3' DNA exonuclease activity	ISS
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045335	Component	Phagocytic vesicle	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:1900015	Process	Regulation of cytokine production involved in inflammatory response	IEA
GO:1900015	Process	Regulation of cytokine production involved in inflammatory response	ISS

MIM	HGNC	e!Ensembl
618488	23792	ENSG00000166428

Q96BZ4

Protein name

5'-3' exonuclease PLD4 (EC 3.1.16.1) ((S,S)-bis(monoacylglycero)phosphate synthase PLD4) (EC 3.1.4.-) (Phospholipase D family member 4) (Phospholipase D4)

Protein function

5'->3' exonuclease that hydrolyzes the phosphodiester bond of single-stranded DNA (ssDNA) and RNA molecules to form nucleoside 3'-monophosphates and 5'-end 5'-hydroxy deoxyribonucleotide/ribonucleotide fragments (PubMed:30111894, PubMed:34620855

PDB

8V08

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13918	PLDc_3	239 → 416	PLD-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in plasmacytoid dendritic cells and monocytes (at protein level). {ECO:0000269|PubMed:38697119}.

Sequence

MLKPLWKAAVAPTWPCSMPPRRPWDREAGTLQVLGALAVLWLGSVALICLLWQVPRPPTW
GQVQPKDVPRSWEHGSSPAWEPLEAEARQQRDSCQLVLVESIPQDLPSAAGSPSAQPLGQ
AWLQLLDTAQESVHVASYYWSLTGPDIGVNDSSSQLGEALLQKLQQLLGRNISLAVATSS
PTLARTSTDLQVLAARGAHVRQVPMGRLTRGVLHSKFWVVDGRHIYMGSANMDWRSLTQV
KELGAVIYNCSHLAQDLEKTFQTYWVLGVPKAVLPKTWPQNFSSHFNRFQPFHGLFDGVP
TTAYFSASPPALCPQGRTRDLEALLAVMGSAQEFIYASVMEYFPTTRFSHPPRYWPVLDN
ALRAAAFGKGVRVRLLVGCGLNTDPTMFPYLRSLQALSNPAANVSVDVKVFIVPVGNHSN
IPFSRVNHSKFMVTEKAAYIGTSNWSEDYFSSTAGVGLVVTQSPGAQPAGATVQEQLRQL
FERDWSSRYAVGLDGQAPGQDCVWQG

Sequence length

506

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways		Synthesis of IP3 and IP4 in the cytosol Role of phospholipids in phagocytosis

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)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS 18	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	33288674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23577190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23124809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34666190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27840999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33288674, 37840148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30679154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27840999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28814511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	22446963		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	24390342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	24390342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30111894		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	23124809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	33288674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23124809, 30111894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	GENOMICS_ENGLAND_DG	28041643		★★★★★ ★☆☆☆☆ Found in Text Mining only

PLD4 (phospholipase D family member 4)