PLA2G6 (phospholipase A2 group VI)

2007-02-01 Affiliation

Identity

HGNC

PLA2G6

LOCATION

22q13.1

LOCUSID

8398

ALIAS

CaI-PLA2,GVI,INAD1,IPLA2-VIA,NBIA2,NBIA2A,NBIA2B,PARK14,PLA2,PNPLA9,iPLA2,iPLA2beta

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000184381	ENST00000332509	O60733
ENSG00000184381	ENST00000335539	O60733
ENSG00000184381	ENST00000402064	O60733
ENSG00000184381	ENST00000427114	H0Y6T3
ENSG00000184381	ENST00000430886	B0QYE9
ENSG00000184381	ENST00000436218	F8WEN3
ENSG00000184381	ENST00000448094	E7EX67
ENSG00000184381	ENST00000452542	H0Y7G5
ENSG00000184381	ENST00000454670	H7C3P5
ENSG00000184381	ENST00000455341	F8WEQ9
ENSG00000184381	ENST00000498338	M0R1Q9
ENSG00000184381	ENST00000594306	M0R3D9
ENSG00000184381	ENST00000655142	A0A590UK67
ENSG00000184381	ENST00000660610	O60733
ENSG00000184381	ENST00000663895	O60733
ENSG00000184381	ENST00000664587	A0A590UJC7
ENSG00000184381	ENST00000665987	A0A590UJH4
ENSG00000184381	ENST00000667521	O60733
ENSG00000184381	ENST00000668499	A0A590UJZ2
ENSG00000184381	ENST00000668949	A0A590UK51

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Glycerophospholipid metabolism	KEGG	ko00564
Ether lipid metabolism	KEGG	ko00565
Arachidonic acid metabolism	KEGG	ko00590
Linoleic acid metabolism	KEGG	ko00591
alpha-Linolenic acid metabolism	KEGG	ko00592
Glycerophospholipid metabolism	KEGG	hsa00564
Ether lipid metabolism	KEGG	hsa00565
Arachidonic acid metabolism	KEGG	hsa00590
Linoleic acid metabolism	KEGG	hsa00591
alpha-Linolenic acid metabolism	KEGG	hsa00592
Vascular smooth muscle contraction	KEGG	hsa04270
Vascular smooth muscle contraction	KEGG	ko04270
Fc gamma R-mediated phagocytosis	KEGG	ko04666
Fc gamma R-mediated phagocytosis	KEGG	hsa04666
Metabolic pathways	KEGG	hsa01100
Ras signaling pathway	KEGG	hsa04014
Inflammatory mediator regulation of TRP channels	KEGG	hsa04750
Inflammatory mediator regulation of TRP channels	KEGG	ko04750
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosis	REACTOME	R-HSA-2029480
Role of phospholipids in phagocytosis	REACTOME	R-HSA-2029485
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Phospholipid metabolism	REACTOME	R-HSA-1483257
Glycerophospholipid biosynthesis	REACTOME	R-HSA-1483206
Acyl chain remodelling of PE	REACTOME	R-HSA-1482839
Acyl chain remodelling of PC	REACTOME	R-HSA-1482788
Acyl chain remodeling of CL	REACTOME	R-HSA-1482798
Intra-Golgi and retrograde Golgi-to-ER traffic	REACTOME	R-HSA-6811442
Golgi-to-ER retrograde transport	REACTOME	R-HSA-8856688
COPI-independent Golgi-to-ER retrograde traffic	REACTOME	R-HSA-6811436

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA449552	etoposide	Chemical	MultilinkAnnotation	associated			24444404

References

Pubmed ID	Year	Title	Citations
15364929	2004	Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.	261
16783378	2006	PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.	130
18570303	2009	Characterization of PLA2G6 as a locus for dystonia-parkinsonism.	101
19578365	2009	Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.	94
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
18799783	2008	Neurodegeneration associated with genetic defects in phospholipase A(2).	83
18799783	2008	Neurodegeneration associated with genetic defects in phospholipase A(2).	83
20669327	2010	Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.	67
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
12208880	2002	I-PLA(2) activation during apoptosis promotes the exposure of membrane lysophosphatidylcholine leading to binding by natural immunoglobulin M antibodies and complement activation.	60

Citation

Dessen P

PLA2G6 (phospholipase A2 group VI)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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