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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	50640
Gene name Gene Name - the full gene name approved by the HGNC.	Patatin like domain 8, phospholipase A2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PNPLA8
Synonyms (NCBI Gene) Gene synonyms aliases	IPLA2-2, IPLA2G, MMLA, PNPLA-gamma, iPLA2gamma
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MMLA
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independ

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs774184465	AG>-	Uncertain-significance, pathogenic	Coding sequence variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs786205882	TAAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1598909288	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant

Show/Hide all(79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020888	hsa-miR-155-5p	Proteomics	18668040
MIRT439939	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439939	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1245503	hsa-miR-1270	CLIP-seq
MIRT1245504	hsa-miR-203	CLIP-seq
MIRT1245505	hsa-miR-2682	CLIP-seq
MIRT1245506	hsa-miR-3127-5p	CLIP-seq
MIRT1245507	hsa-miR-3174	CLIP-seq
MIRT1245508	hsa-miR-331-5p	CLIP-seq
MIRT1245509	hsa-miR-338-5p	CLIP-seq
MIRT1245510	hsa-miR-34a	CLIP-seq
MIRT1245511	hsa-miR-34c-5p	CLIP-seq
MIRT1245512	hsa-miR-3591-3p	CLIP-seq
MIRT1245513	hsa-miR-3653	CLIP-seq
MIRT1245514	hsa-miR-3658	CLIP-seq
MIRT1245515	hsa-miR-3691-5p	CLIP-seq
MIRT1245516	hsa-miR-3714	CLIP-seq
MIRT1245517	hsa-miR-375	CLIP-seq
MIRT1245518	hsa-miR-3911	CLIP-seq
MIRT1245519	hsa-miR-410	CLIP-seq
MIRT1245520	hsa-miR-421	CLIP-seq
MIRT1245521	hsa-miR-4272	CLIP-seq
MIRT1245522	hsa-miR-4302	CLIP-seq
MIRT1245523	hsa-miR-4434	CLIP-seq
MIRT1245524	hsa-miR-4495	CLIP-seq
MIRT1245525	hsa-miR-449a	CLIP-seq
MIRT1245526	hsa-miR-449b	CLIP-seq
MIRT1245527	hsa-miR-449c	CLIP-seq
MIRT1245528	hsa-miR-4516	CLIP-seq
MIRT1245529	hsa-miR-4531	CLIP-seq
MIRT1245530	hsa-miR-4635	CLIP-seq
MIRT1245531	hsa-miR-4752	CLIP-seq
MIRT1245532	hsa-miR-513a-3p	CLIP-seq
MIRT1245533	hsa-miR-548an	CLIP-seq
MIRT1245534	hsa-miR-548t	CLIP-seq
MIRT1245535	hsa-miR-578	CLIP-seq
MIRT1245536	hsa-miR-580	CLIP-seq
MIRT1245537	hsa-miR-607	CLIP-seq
MIRT1245538	hsa-miR-620	CLIP-seq
MIRT1245539	hsa-miR-656	CLIP-seq
MIRT1245540	hsa-miR-921	CLIP-seq
MIRT2299851	hsa-miR-4668-3p	CLIP-seq
MIRT2432206	hsa-miR-320a	CLIP-seq
MIRT2432207	hsa-miR-320b	CLIP-seq
MIRT2432208	hsa-miR-320c	CLIP-seq
MIRT2432209	hsa-miR-320d	CLIP-seq
MIRT2432210	hsa-miR-4429	CLIP-seq
MIRT2432211	hsa-miR-944	CLIP-seq
MIRT2596529	hsa-miR-127-5p	CLIP-seq
MIRT2596530	hsa-miR-3143	CLIP-seq
MIRT2432206	hsa-miR-320a	CLIP-seq
MIRT2432207	hsa-miR-320b	CLIP-seq
MIRT2432208	hsa-miR-320c	CLIP-seq
MIRT2432209	hsa-miR-320d	CLIP-seq
MIRT2596531	hsa-miR-320e	CLIP-seq
MIRT2596532	hsa-miR-3607-3p	CLIP-seq
MIRT2596533	hsa-miR-3686	CLIP-seq
MIRT2596534	hsa-miR-412	CLIP-seq
MIRT2596535	hsa-miR-4320	CLIP-seq
MIRT2432210	hsa-miR-4429	CLIP-seq
MIRT2596536	hsa-miR-4452	CLIP-seq
MIRT2596537	hsa-miR-4477a	CLIP-seq
MIRT2596538	hsa-miR-4778-5p	CLIP-seq
MIRT2596539	hsa-miR-563	CLIP-seq
MIRT2432211	hsa-miR-944	CLIP-seq
MIRT2596530	hsa-miR-3143	CLIP-seq
MIRT2432206	hsa-miR-320a	CLIP-seq
MIRT2432207	hsa-miR-320b	CLIP-seq
MIRT2432208	hsa-miR-320c	CLIP-seq
MIRT2432209	hsa-miR-320d	CLIP-seq
MIRT2596531	hsa-miR-320e	CLIP-seq
MIRT2596532	hsa-miR-3607-3p	CLIP-seq
MIRT2596533	hsa-miR-3686	CLIP-seq
MIRT2596534	hsa-miR-412	CLIP-seq
MIRT2432210	hsa-miR-4429	CLIP-seq
MIRT2596536	hsa-miR-4452	CLIP-seq
MIRT2596537	hsa-miR-4477a	CLIP-seq
MIRT2596538	hsa-miR-4778-5p	CLIP-seq
MIRT2432211	hsa-miR-944	CLIP-seq

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001516	Process	Prostaglandin biosynthetic process	IDA	15695510
GO:0004620	Function	Phospholipase activity	IBA	21873635
GO:0004622	Function	Lysophospholipase activity	IEA
GO:0005524	Function	ATP binding	NAS	10744668
GO:0005739	Component	Mitochondrion	ISS
GO:0005777	Component	Peroxisome	IDA	15695510
GO:0005778	Component	Peroxisomal membrane	IDA	10744668
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006631	Process	Fatty acid metabolic process	IBA	21873635
GO:0006631	Process	Fatty acid metabolic process	IDA	10744668
GO:0008219	Process	Cell death	IDA	15695510
GO:0016020	Component	Membrane	IBA	21873635
GO:0016020	Component	Membrane	IDA	10833412
GO:0016021	Component	Integral component of membrane	IEA
GO:0019369	Process	Arachidonic acid metabolic process	IBA	21873635
GO:0019369	Process	Arachidonic acid metabolic process	IDA	10833412, 15695510
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0034638	Process	Phosphatidylcholine catabolic process	IDA	15695510
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	TAS
GO:0036152	Process	Phosphatidylethanolamine acyl-chain remodeling	TAS
GO:0043651	Process	Linoleic acid metabolic process	IDA	15695510
GO:0046338	Process	Phosphatidylethanolamine catabolic process	IDA	15695510
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IBA	21873635
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IDA	10744668, 10833412, 15695510, 15908428
GO:0050482	Process	Arachidonic acid secretion	IDA	10833412, 15695510
GO:0055088	Process	Lipid homeostasis	IMP	17213206
GO:0070328	Process	Triglyceride homeostasis	IMP	17213206
GO:0102545	Function	Phosphatidyl phospholipase B activity	IEA

MIM	HGNC	e!Ensembl
612123	28900	ENSG00000135241

Protein

UniProt ID

Q9NP80

Protein name

Calcium-independent phospholipase A2-gamma (EC 3.1.1.-) (EC 3.1.1.5) (Intracellular membrane-associated calcium-independent phospholipase A2 gamma) (iPLA2-gamma) (PNPLA-gamma) (Patatin-like phospholipase domain-containing protein 8) (iPLA2-2)

Protein function

Calcium-independent and membrane-bound phospholipase, that catalyzes the esterolytic cleavage of fatty acids from glycerophospholipids to yield free fatty acids and lysophospholipids, hence regulating membrane physical properties and the release

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01734	Patatin	445 → 640	Patatin-like phospholipase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in parenchymal tissues including heart, skeletal muscle, placenta, brain, liver and pancreas. Also expressed in bronchial epithelial cells and kidney. Highest expression is observed in skeletal muscle and heart. {ECO:0000269|

Sequence

MSINLTVDIYIYLLSNARSVCGKQRSKQLYFLFSPKHYWRISHISLQRGFHTNIIRCKWT
KSEAHSCSKHCYSPSNHGLHIGILKLSTSAPKGLTKVNICMSRIKSTLNSVSKAVFGNQN
EMISRLAQFKPSSQILRKVSDSGWLKQKNIKQAIKSLKKYSDKSAEKSPFPEEKSHIIDK
EEDIGKRSLFHYTSSITTKFGDSFYFLSNHINSYFKRKEKMSQQKENEHFRDKSELEDKK
VEEGKLRSPDPGILAYKPGSESVHTVDKPTSPSAIPDVLQVSTKQSIANFLSRPTEGVQA
LVGGYIGGLVPKLKYDSKSQSEEQEEPAKTDQAVSKDRNAEEKKRLSLQREKIIARVSID
NRTRALVQALRRTTDPKLCITRVEELTFHLLEFPEGKGVAVKERIIPYLLRLRQIKDETL
QAAVREILALIGYVDPVKGRGIRILSIDGGGTRGVVALQTLRKLVELTQKPVHQLFDYIC
GVSTGAILAFMLGLFHMPLDECEELYRKLGSDVFSQNVIVGTVKMSWSHAFYDSQTWENI
LKDRMGSALMIETARNPTCPKVAAVSTIVNRGITPKAFVFRNYGHFPGINSHYLGGCQYK
MWQAIRASSAAPGYFAEYALGNDLHQDGGLLLNNPSALAMHECKCLWPDVPLECIVSLGT
GRYESDVRNTVTYTSLKTKLSNVINSATDTEEVHIMLDGLLPPDTYFRFNPVMCENIPLD
ESRNEKLDQLQLEGLKYIERNEQKMKKVAKILSQEKTTLQKINDWIKLKTDMYEGLPFFS
KL

Sequence length

782

Interactions

View interactions

	Reactome
			Acyl chain remodelling of PC Acyl chain remodelling of PE

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Mitochondrial myopathy-lactic acidosis-deafness syndrome	Mitochondrial myopathy with lactic acidosis	rs786205882, rs774184465, rs1598909288	25473036, 29681094
Seizure	Complex partial seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Oligodendroglioma	Oligodendroglioma			GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
Acidosis Lactic	Associate	29681094
Breast Neoplasms	Stimulate	38017485
Cerebellar Diseases	Associate	29681094
Developmental Disabilities	Associate	29681094
Heart Diseases	Associate	29305524
Heart Failure	Associate	29305524
Microcephaly	Associate	29681094
Mitochondrial Diseases	Associate	29681094
Muscle Spasticity	Associate	29681094
Necrosis	Associate	29305524
Neurodegenerative Diseases	Associate	29681094
Schizophrenia	Associate	18445270
Triple Negative Breast Neoplasms	Stimulate	38017485

PNPLA8 (patatin like domain 8, phospholipase A2)