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FLASH GENE

Symbol

PLA2G6

contributors: mct - updated : 15-02-2012

HGNC name	phospholipase A2, group VI (cytosolic, calcium-independent)
HGNC id	9039

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	INAD1 infantile neuroaxonal dystrophy 1 NBIA2 neurodegeneration with brain iron accumulation 2 PARK14 Parkinson disease 14
Location	22q13.1      Physical location : 38.507.501 - 38.577.761
Synonym name	patatin-like phospholipase domain containing 9
	calcium-independent phospholipase A2
	phospholipase A2, group VI
	cytosolic, calcium-independent phospholipase A2
Synonym symbol(s)	IPLA2, CaI-PLA2, GVI, PLA2, PNPLA9, IPLA2beta, PARK14, IPLA2-VIA
EC.number	3.1.1.4

DNA

TYPE	functioning gene
STRUCTURE	70.26 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001004426 16 - 3077 NP_001004426 - 752 ubiquitous 2005 15629460 also called variant 2 or ER-IPLA2 gamma may play critical roles in oxidant-induced cell injury NM_003560 17 - 3239 NP_003551 89.9 806 - 2005 15629460 also called variant 1

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Lymphoid/Immune thymus       highly Nervous brain         Reproductive male system testis     highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a lipase consensus sequence (GTSTG)
	seven ankyrin repeats
	multiple alternatively splicing forms with distinct tissue distribution and cellular localization
	patatin domain

conjugated

Other

HOMOLOGY

Homologene

FAMILY

phospholipase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome

basic FUNCTION	participating in Fas mediated apoptosis
	involved in the remodeling of membranes allowing arachidonic acid to be placed in the proper position in phospholipids for stimulated release
	possible role for PLA2G6 in neuronal proliferation throughout the developing brain and in maturing neurons in the cortical plate and hindbrain

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

pathway leading to CYBB activation in which PLA2G6-regulated MAPK14 activity is a key regulator of S100A8/A9 translocation via S100A9 phosphorylation

a component

oligomeric complex

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NBIA2 , INAD1 , PARK14

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function results in excessive exocytosis through increased oxidative damage (or failure to repair such damage) and defects in mitochondrial function (

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy   inhibition of iPLA(2) and lysophospholipid production may be of interest to reduce Ca(2+) entry and subsequent degeneration of dystrophic muscle

ANIMAL & CELL MODELS