Gene table of PNPLA8 : patatin like phospholipase domain containing 8

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PNPLA8	OMIM link	Number of associated genes	genes
251950	MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS	OMIM	link to OMIM	1	PNPLA8

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Phospholipid metabolism	R-HSA-1483257	5.83
Acyl chain remodelling of PE	R-HSA-1482839	8.46
Glycerophospholipid biosynthesis	R-HSA-1483206	6.46
Metabolism	R-HSA-1430728	2.34
Acyl chain remodelling of PC	R-HSA-1482788	8.34
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
calcium-independent phospholipase A2 activity	GO:0047499	8.13
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
carboxylic ester hydrolase activity	GO:0052689	4.81
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on ester bonds	GO:0016788	3.1
lysophospholipase activity	GO:0004622	6.69
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl ribonucleotide binding	GO:0032559	2.41
purine ribonucleotide binding	GO:0032555	2.2
phospholipase A2 activity	GO:0004623	6.24
phospholipase activity	GO:0004620	5.16
lipase activity	GO:0016298	4.96
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19