PLA2G6 (phospholipase A2 group VI)

2007-02-01  

Identity

HGNC
LOCATION
22q13.1
LOCUSID
ALIAS
CaI-PLA2,GVI,INAD1,IPLA2-VIA,NBIA2,NBIA2A,NBIA2B,PARK14,PLA2,PNPLA9,iPLA2,iPLA2beta
FUSION GENES

Other Information

Locus ID:

NCBI: 8398
MIM: 603604
HGNC: 9039
Ensembl: ENSG00000184381

Variants:

dbSNP: 8398
ClinVar: 8398
TCGA: ENSG00000184381
COSMIC: PLA2G6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184381ENST00000332509O60733
ENSG00000184381ENST00000335539O60733
ENSG00000184381ENST00000402064O60733
ENSG00000184381ENST00000427114H0Y6T3
ENSG00000184381ENST00000430886B0QYE9
ENSG00000184381ENST00000436218F8WEN3
ENSG00000184381ENST00000448094E7EX67
ENSG00000184381ENST00000452542H0Y7G5
ENSG00000184381ENST00000454670H7C3P5
ENSG00000184381ENST00000455341F8WEQ9
ENSG00000184381ENST00000498338M0R1Q9
ENSG00000184381ENST00000594306M0R3D9
ENSG00000184381ENST00000655142A0A590UK67
ENSG00000184381ENST00000660610O60733
ENSG00000184381ENST00000663895O60733
ENSG00000184381ENST00000664587A0A590UJC7
ENSG00000184381ENST00000665987A0A590UJH4
ENSG00000184381ENST00000667521O60733
ENSG00000184381ENST00000668499A0A590UJZ2
ENSG00000184381ENST00000668949A0A590UK51

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Ether lipid metabolismKEGGko00565
Arachidonic acid metabolismKEGGko00590
Linoleic acid metabolismKEGGko00591
alpha-Linolenic acid metabolismKEGGko00592
Glycerophospholipid metabolismKEGGhsa00564
Ether lipid metabolismKEGGhsa00565
Arachidonic acid metabolismKEGGhsa00590
Linoleic acid metabolismKEGGhsa00591
alpha-Linolenic acid metabolismKEGGhsa00592
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Fc gamma R-mediated phagocytosisKEGGko04666
Fc gamma R-mediated phagocytosisKEGGhsa04666
Metabolic pathwaysKEGGhsa01100
Ras signaling pathwayKEGGhsa04014
Inflammatory mediator regulation of TRP channelsKEGGhsa04750
Inflammatory mediator regulation of TRP channelsKEGGko04750
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Role of phospholipids in phagocytosisREACTOMER-HSA-2029485
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodelling of PEREACTOMER-HSA-1482839
Acyl chain remodelling of PCREACTOMER-HSA-1482788
Acyl chain remodeling of CLREACTOMER-HSA-1482798
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449552etoposideChemicalMultilinkAnnotationassociated24444404

References

Pubmed IDYearTitleCitations
369901222023Molecular basis of unique specificity and regulation of group VIA calcium-independent phospholipase A(2) (PNPLA9) and its role in neurodegenerative diseases.1
371395422023PLA2G6-associated late-onset parkinsonism in a Sudanese family.0
372363682023The role of the PLA2G6 gene in neurodegenerative diseases.3
372902572023Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naïve first-episode psychosis patients and nonadherent chronic psychosis patients.0
374031382023Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.0
369901222023Molecular basis of unique specificity and regulation of group VIA calcium-independent phospholipase A(2) (PNPLA9) and its role in neurodegenerative diseases.1
371395422023PLA2G6-associated late-onset parkinsonism in a Sudanese family.0
372363682023The role of the PLA2G6 gene in neurodegenerative diseases.3
372902572023Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naïve first-episode psychosis patients and nonadherent chronic psychosis patients.0
374031382023Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.0
346229922022Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.14
350927052022Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.2
352472312022Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.3
346229922022Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.14
350927052022Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.2

Citation

Dessen P

PLA2G6 (phospholipase A2 group VI)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45836/pla2g6