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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50640
Gene name	Patatin like domain 8, phospholipase A2
Gene symbol	PNPLA8
Synonyms (NCBI Gene)	IPLA2-2IPLA2GMMLAPNPLA-gammaiPLA2gamma
Chromosome	7
Chromosome location	7q31.1
Summary	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 (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001516	Process	Prostaglandin biosynthetic process	IDA	15695510
GO:0004620	Function	Phospholipase activity	IEA
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IEA
GO:0004623	Function	Phospholipase A2 activity	IEA
GO:0005524	Function	ATP binding	NAS	10744668
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005777	Component	Peroxisome	IDA	15695510
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IDA	10744668
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IDA	10744668
GO:0008970	Function	Phospholipase A1 activity	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	10833412, 18171998
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0019369	Process	Arachidonate metabolic process	IDA	10833412, 15695510, 28442572
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032048	Process	Cardiolipin metabolic process	IDA	28442572
GO:0032048	Process	Cardiolipin metabolic process	IEA
GO:0034638	Process	Phosphatidylcholine catabolic process	IDA	15695510
GO:0035556	Process	Intracellular signal transduction	IDA	15695510
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
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IDA	10744668, 10833412, 15695510, 15908428, 18171998
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IEA
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IMP	28442572
GO:0050482	Process	Arachidonate secretion	IDA	10833412, 15695510
GO:0055088	Process	Lipid homeostasis	IEA
GO:0055088	Process	Lipid homeostasis	IMP	17213206
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0070328	Process	Triglyceride homeostasis	IMP	17213206
GO:1900407	Process	Regulation of cellular response to oxidative stress	IEA

MIM	HGNC	e!Ensembl
612123	28900	ENSG00000135241

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic	rs770314806	RCV001814422
Mitochondrial myopathy-lactic acidosis-deafness syndrome	Likely pathogenic; Pathogenic	rs2154516696, rs2154515356, rs1462456361, rs786205882, rs774184465, rs1444737333, rs753758872, rs1861563628, rs1248710641, rs2552112201, rs1598909288	RCV001358689 RCV001795819 RCV001806370 RCV000170361 RCV000170362 RCV003148381 RCV003331723 RCV003335977 RCV005603855 RCV003989351 RCV000991386
PNPLA8-related disorder	Likely pathogenic	rs2552117876	RCV003416878

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colorectal cancer	Benign	rs34936500	RCV005925840
Complex neurodevelopmental disorder	Uncertain significance	rs771446974	RCV006249829
Gastric cancer	Benign	rs34936500	RCV005925842
Lung cancer	Benign	rs34936500	RCV005925845
Malignant tumor of esophagus	Benign	rs34936500	RCV005925838
Melanoma	Benign; Uncertain significance	rs34936500, rs35597447	RCV005925844 RCV005930633
Nonpapillary renal cell carcinoma	Benign	rs34936500	RCV005925839
Sarcoma	Benign	rs34936500	RCV005925841
Thyroid cancer, nonmedullary, 1	Benign	rs34936500	RCV005925843

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)