Entity Details

Primary name PLA2G6
Entity type gene
Source Source Link

Details

PrimaryID8398
RefseqGeneNG_007094
SymbolPLA2G6
Namephospholipase A2 group VI
Chromosome22
Location22q13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPLPL9_HUMAN

GO terms

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GOName
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity
GO:0004622 lysophospholipase activity
GO:0004623 phospholipase A2 activity
GO:0005516 calmodulin binding
GO:0005615 extracellular space
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006935 chemotaxis
GO:0016021 integral component of membrane
GO:0016290 palmitoyl-CoA hydrolase activity
GO:0019731 antibacterial humoral response
GO:0031143 pseudopodium
GO:0032049 cardiolipin biosynthetic process
GO:0034451 centriolar satellite
GO:0034638 phosphatidylcholine catabolic process
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0035965 cardiolipin acyl-chain remodeling
GO:0036151 phosphatidylcholine acyl-chain remodeling
GO:0036152 phosphatidylethanolamine acyl-chain remodeling
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0042802 identical protein binding
GO:0046338 phosphatidylethanolamine catabolic process
GO:0046469 platelet activating factor metabolic process
GO:0046473 phosphatidic acid metabolic process
GO:0047499 calcium-independent phospholipase A2 activity
GO:0102545 phosphatidyl phospholipase B activity
GO:0102567 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine)
GO:0102568 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine)
GO:0102991 myristoyl-CoA hydrolase activity

Diseases

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Disease IDSourceNameDescription
610217 OMIMNeurodegeneration with brain iron accumulation 2B (NBIA2B)A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. The disease is caused by variants affecting the gene represented in this entry.
612953 OMIMParkinson disease 14 (PARK14)An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. The disease is caused by variants affecting the gene represented in this entry.
256600 OMIMNeurodegeneration with brain iron accumulation 2A (NBIA2A)A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. The disease is caused by variants affecting the gene represented in this entry.

Interactions

17 interactions