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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23646
Gene name Gene Name - the full gene name approved by the HGNC.	Phospholipase D family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PLD3
Synonyms (NCBI Gene) Gene synonyms aliases	AD19, HU-K4, HUK4, SCA46
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AD19, SCA46
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein in

Show/Hide all(163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017099	hsa-miR-335-5p	Microarray	18185580
MIRT051205	hsa-miR-16-5p	CLASH	23622248
MIRT044846	hsa-miR-320a	CLASH	23622248
MIRT044846	hsa-miR-320a	CLASH	23622248
MIRT042303	hsa-miR-484	CLASH	23622248
MIRT037314	hsa-miR-877-5p	CLASH	23622248
MIRT1240283	hsa-let-7a	CLIP-seq
MIRT1240284	hsa-let-7b	CLIP-seq
MIRT1240285	hsa-let-7c	CLIP-seq
MIRT1240286	hsa-let-7d	CLIP-seq
MIRT1240287	hsa-let-7e	CLIP-seq
MIRT1240288	hsa-let-7f	CLIP-seq
MIRT1240289	hsa-let-7g	CLIP-seq
MIRT1240290	hsa-let-7i	CLIP-seq
MIRT1240291	hsa-miR-129-5p	CLIP-seq
MIRT1240292	hsa-miR-146b-3p	CLIP-seq
MIRT1240293	hsa-miR-3157-3p	CLIP-seq
MIRT1240294	hsa-miR-3173-5p	CLIP-seq
MIRT1240295	hsa-miR-3927	CLIP-seq
MIRT1240296	hsa-miR-3978	CLIP-seq
MIRT1240297	hsa-miR-4281	CLIP-seq
MIRT1240298	hsa-miR-4308	CLIP-seq
MIRT1240299	hsa-miR-4449	CLIP-seq
MIRT1240300	hsa-miR-4532	CLIP-seq
MIRT1240301	hsa-miR-4731-5p	CLIP-seq
MIRT1240302	hsa-miR-4796-3p	CLIP-seq
MIRT1240303	hsa-miR-874	CLIP-seq
MIRT1240304	hsa-miR-875-3p	CLIP-seq
MIRT1240305	hsa-miR-98	CLIP-seq
MIRT1552341	hsa-miR-1324	CLIP-seq
MIRT1552342	hsa-miR-185	CLIP-seq
MIRT1552343	hsa-miR-1909	CLIP-seq
MIRT1552344	hsa-miR-3166	CLIP-seq
MIRT1552345	hsa-miR-3675-5p	CLIP-seq
MIRT1552346	hsa-miR-486-3p	CLIP-seq
MIRT1922316	hsa-miR-4640-5p	CLIP-seq
MIRT1922317	hsa-miR-4726-5p	CLIP-seq
MIRT1240283	hsa-let-7a	CLIP-seq
MIRT1240284	hsa-let-7b	CLIP-seq
MIRT1240285	hsa-let-7c	CLIP-seq
MIRT1240286	hsa-let-7d	CLIP-seq
MIRT1240287	hsa-let-7e	CLIP-seq
MIRT1240288	hsa-let-7f	CLIP-seq
MIRT1240289	hsa-let-7g	CLIP-seq
MIRT1240290	hsa-let-7i	CLIP-seq
MIRT1240295	hsa-miR-3927	CLIP-seq
MIRT1240305	hsa-miR-98	CLIP-seq
MIRT1240283	hsa-let-7a	CLIP-seq
MIRT1240284	hsa-let-7b	CLIP-seq
MIRT1240285	hsa-let-7c	CLIP-seq
MIRT1240286	hsa-let-7d	CLIP-seq
MIRT1240287	hsa-let-7e	CLIP-seq
MIRT1240288	hsa-let-7f	CLIP-seq
MIRT1240289	hsa-let-7g	CLIP-seq
MIRT1240290	hsa-let-7i	CLIP-seq
MIRT1552342	hsa-miR-185	CLIP-seq
MIRT1552343	hsa-miR-1909	CLIP-seq
MIRT1240295	hsa-miR-3927	CLIP-seq
MIRT1240305	hsa-miR-98	CLIP-seq
MIRT1240283	hsa-let-7a	CLIP-seq
MIRT1240284	hsa-let-7b	CLIP-seq
MIRT1240285	hsa-let-7c	CLIP-seq
MIRT1240286	hsa-let-7d	CLIP-seq
MIRT1240287	hsa-let-7e	CLIP-seq
MIRT1240288	hsa-let-7f	CLIP-seq
MIRT1240289	hsa-let-7g	CLIP-seq
MIRT1240290	hsa-let-7i	CLIP-seq
MIRT1240295	hsa-miR-3927	CLIP-seq
MIRT1240305	hsa-miR-98	CLIP-seq
MIRT2439541	hsa-miR-1243	CLIP-seq
MIRT2439542	hsa-miR-1245b-5p	CLIP-seq
MIRT2439543	hsa-miR-1470	CLIP-seq
MIRT2439544	hsa-miR-1912	CLIP-seq
MIRT2439545	hsa-miR-214	CLIP-seq
MIRT2439546	hsa-miR-3142	CLIP-seq
MIRT2439547	hsa-miR-3194-3p	CLIP-seq
MIRT2439548	hsa-miR-338-3p	CLIP-seq
MIRT2439549	hsa-miR-361-3p	CLIP-seq
MIRT2439550	hsa-miR-3619-5p	CLIP-seq
MIRT2439551	hsa-miR-3663-3p	CLIP-seq
MIRT1240296	hsa-miR-3978	CLIP-seq
MIRT2439552	hsa-miR-4267	CLIP-seq
MIRT1240298	hsa-miR-4308	CLIP-seq
MIRT2439553	hsa-miR-4530	CLIP-seq
MIRT1922316	hsa-miR-4640-5p	CLIP-seq
MIRT2439554	hsa-miR-4656	CLIP-seq
MIRT2439555	hsa-miR-4667-3p	CLIP-seq
MIRT2439556	hsa-miR-4690-5p	CLIP-seq
MIRT1922317	hsa-miR-4726-5p	CLIP-seq
MIRT1240301	hsa-miR-4731-5p	CLIP-seq
MIRT2439557	hsa-miR-4755-3p	CLIP-seq
MIRT2439558	hsa-miR-4763-5p	CLIP-seq
MIRT1240302	hsa-miR-4796-3p	CLIP-seq
MIRT2439559	hsa-miR-501-3p	CLIP-seq
MIRT2439560	hsa-miR-502-3p	CLIP-seq
MIRT2439561	hsa-miR-541	CLIP-seq
MIRT2439562	hsa-miR-654-5p	CLIP-seq
MIRT2439563	hsa-miR-761	CLIP-seq
MIRT1240304	hsa-miR-875-3p	CLIP-seq
MIRT2439542	hsa-miR-1245b-5p	CLIP-seq
MIRT1240291	hsa-miR-129-5p	CLIP-seq
MIRT1240292	hsa-miR-146b-3p	CLIP-seq
MIRT2439544	hsa-miR-1912	CLIP-seq
MIRT2439545	hsa-miR-214	CLIP-seq
MIRT2595343	hsa-miR-296-5p	CLIP-seq
MIRT2439546	hsa-miR-3142	CLIP-seq
MIRT1240293	hsa-miR-3157-3p	CLIP-seq
MIRT1240294	hsa-miR-3173-5p	CLIP-seq
MIRT2439548	hsa-miR-338-3p	CLIP-seq
MIRT2439550	hsa-miR-3619-5p	CLIP-seq
MIRT2439551	hsa-miR-3663-3p	CLIP-seq
MIRT1240296	hsa-miR-3978	CLIP-seq
MIRT2595344	hsa-miR-4292	CLIP-seq
MIRT1240298	hsa-miR-4308	CLIP-seq
MIRT2439553	hsa-miR-4530	CLIP-seq
MIRT1922316	hsa-miR-4640-5p	CLIP-seq
MIRT2439556	hsa-miR-4690-5p	CLIP-seq
MIRT2595345	hsa-miR-4699-3p	CLIP-seq
MIRT1922317	hsa-miR-4726-5p	CLIP-seq
MIRT2439557	hsa-miR-4755-3p	CLIP-seq
MIRT2439558	hsa-miR-4763-5p	CLIP-seq
MIRT2595346	hsa-miR-4795-3p	CLIP-seq
MIRT1240302	hsa-miR-4796-3p	CLIP-seq
MIRT2439559	hsa-miR-501-3p	CLIP-seq
MIRT2439560	hsa-miR-502-3p	CLIP-seq
MIRT2439561	hsa-miR-541	CLIP-seq
MIRT2439562	hsa-miR-654-5p	CLIP-seq
MIRT2439563	hsa-miR-761	CLIP-seq
MIRT1240303	hsa-miR-874	CLIP-seq
MIRT1240304	hsa-miR-875-3p	CLIP-seq
MIRT2595347	hsa-miR-9	CLIP-seq
MIRT1922316	hsa-miR-4640-5p	CLIP-seq
MIRT1922317	hsa-miR-4726-5p	CLIP-seq
MIRT2439541	hsa-miR-1243	CLIP-seq
MIRT2439542	hsa-miR-1245b-5p	CLIP-seq
MIRT1240291	hsa-miR-129-5p	CLIP-seq
MIRT1240292	hsa-miR-146b-3p	CLIP-seq
MIRT2439544	hsa-miR-1912	CLIP-seq
MIRT2439545	hsa-miR-214	CLIP-seq
MIRT2595343	hsa-miR-296-5p	CLIP-seq
MIRT2439546	hsa-miR-3142	CLIP-seq
MIRT1240293	hsa-miR-3157-3p	CLIP-seq
MIRT1240294	hsa-miR-3173-5p	CLIP-seq
MIRT2439548	hsa-miR-338-3p	CLIP-seq
MIRT2439550	hsa-miR-3619-5p	CLIP-seq
MIRT2439551	hsa-miR-3663-3p	CLIP-seq
MIRT1240296	hsa-miR-3978	CLIP-seq
MIRT2595344	hsa-miR-4292	CLIP-seq
MIRT1240298	hsa-miR-4308	CLIP-seq
MIRT2439553	hsa-miR-4530	CLIP-seq
MIRT1922316	hsa-miR-4640-5p	CLIP-seq
MIRT2439556	hsa-miR-4690-5p	CLIP-seq
MIRT2595345	hsa-miR-4699-3p	CLIP-seq
MIRT1922317	hsa-miR-4726-5p	CLIP-seq
MIRT2439557	hsa-miR-4755-3p	CLIP-seq
MIRT2439558	hsa-miR-4763-5p	CLIP-seq
MIRT2595346	hsa-miR-4795-3p	CLIP-seq
MIRT1240302	hsa-miR-4796-3p	CLIP-seq
MIRT2439561	hsa-miR-541	CLIP-seq
MIRT2439562	hsa-miR-654-5p	CLIP-seq
MIRT2439563	hsa-miR-761	CLIP-seq
MIRT1240303	hsa-miR-874	CLIP-seq
MIRT1240304	hsa-miR-875-3p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	29368044
GO:0002376	Process	Immune system process	IEA
GO:0004630	Function	Phospholipase D activity	TAS	9140189
GO:0005515	Function	Protein binding	IPI	20195357, 24336208, 32296183
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15794758, 22428023
GO:0006259	Process	DNA metabolic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0014902	Process	Myotube differentiation	IDA	22428023
GO:0016021	Component	Integral component of membrane	IEA
GO:0031901	Component	Early endosome membrane	IDA	29386126
GO:0031902	Component	Late endosome membrane	IDA	29386126
GO:0043202	Component	Lysosomal lumen	IDA	30312375
GO:0045145	Function	Single-stranded DNA 5'-3' exodeoxyribonuclease activity	IDA	30312375
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IEA
GO:1900015	Process	Regulation of cytokine production involved in inflammatory response	ISS

MIM	HGNC	e!Ensembl
615698	17158	ENSG00000105223

Protein

UniProt ID

Q8IV08

Protein name

5'-3' exonuclease PLD3 (EC 3.1.16.1) ((S,S)-bis(monoacylglycero)phosphate synthase PLD3) (EC 3.1.4.-) (HindIII K4L homolog) (Hu-K4) (Phospholipase D3)

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:30312375

PDB

8Q1K , 8Q1X , 8S86 , 8V5T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13918	PLDc_3	226 → 403	PLD-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. In the brain, high levels of expression are detected in the frontal, temporal and occipital cortices and hippocampus. Expressed at low level in corpus callosum. Expressed in plasmacytoid dendritic cells and monocytes

Sequence

MKPKLMYQELKVPAEEPANELPMNEIEAWKAAEKKARWVLLVLILAVVGFGALMTQLFLW
EYGDLHLFGPNQRPAPCYDPCEAVLVESIPEGLDFPNASTGNPSTSQAWLGLLAGAHSSL
DIASFYWTLTNNDTHTQEPSAQQGEEVLRQLQTLAPKGVNVRIAVSKPSGPQPQADLQAL
LQSGAQVRMVDMQKLTHGVLHTKFWVVDQTHFYLGSANMDWRSLTQVKELGVVMYNCSCL
ARDLTKIFEAYWFLGQAGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLC
PSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAIDDGLRRATYERGVKV
RLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYM
VTERATYIGTSNWSGNYFTETAGTSLLVTQNGRGGLRSQLEAIFLRDWDSPYSHDLDTSA
DSVGNACRLL

Sequence length

490

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways		Role of phospholipids in phagocytosis

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA 46	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926 View all (203 more)	29053796, 30312375

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Spinocerebellar Ataxia	spinocerebellar ataxia 46			GenCC

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	24336208, 26402410, 26411346, 28199971, 29386126, 29395285, 29750252, 30208929, 32941707, 33288674, 36516243, 37925455
Alzheimer Disease	Inhibit	30208929
Breast Neoplasms	Inhibit	37978168
Carcinoma Pancreatic Ductal	Associate	35255936
Cognition Disorders	Associate	28199971
COVID 19	Associate	33971585
Dementia	Associate	29750252, 31836585
Infections	Associate	10074127
Lupus Erythematosus Systemic	Associate	33288674
Neoplasms	Associate	37978168
Otitis Media	Associate	27632927
Parkinson Disease	Associate	32941707
Spinocerebellar Ataxias	Associate	33288674

PLD3 (phospholipase D family member 3)