PLA2G6 - phospholipase A2 group VI Gene
Also Known as GVI; PLA2; INAD1; NBIA2; iPLA2; NBIA2A; NBIA2B; PARK14; PNPLA9; CaI-PLA2; IPLA2-VIA; iPLA2beta
Species: Homo sapiens
About PLA2G6
This gene has 39 transcripts (splice variants), 214 orthologues, 4 paralogues and is associated with 6 phenotypes. Broad expression in testis (RPKM 12.7), gall bladder (RPKM 8.6) and 25 other tissues.
Summary
The protein encoded by this gene is an A2 Phospholipase, a class of enzyme that catalyzes the release of fatty acids from Phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated Apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
PLA2G6 Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001004426.3 | NP_001004426.1 | 85/88 kDa calcium-independent phospholipase A2 isoform b |
| NM_001199562.3 | NP_001186491.1 | 85/88 kDa calcium-independent phospholipase A2 isoform b |
| NM_001349864.2 | NP_001336793.1 | 85/88 kDa calcium-independent phospholipase A2 isoform a |
| NM_001349865.2 | NP_001336794.1 | 85/88 kDa calcium-independent phospholipase A2 isoform b |
| NM_001349866.2 | NP_001336795.1 | 85/88 kDa calcium-independent phospholipase A2 isoform b |
| NM_001349867.2 | NP_001336796.1 | 85/88 kDa calcium-independent phospholipase A2 isoform c |
| NM_001349868.2 | NP_001336797.1 | 85/88 kDa calcium-independent phospholipase A2 isoform d |
| NM_001349869.2 | NP_001336798.1 | 85/88 kDa calcium-independent phospholipase A2 isoform e |
| NM_003560.4 | NP_003551.2 | 85/88 kDa calcium-independent phospholipase A2 isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables calcium-independent phospholipase A2 activity |
IDA
IDA: Inferred from direct assay
|
15908428 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables long-chain fatty acyl-CoA hydrolase activity |
IDA
IDA: Inferred from direct assay
|
20886109 | GOA |
| enables lysophospholipase activity |
IDA
IDA: Inferred from direct assay
|
20886109 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in antibacterial humoral response |
IDA
IDA: Inferred from direct assay
|
18714013 | GOA |
| involved in cardiolipin acyl-chain remodeling |
IDA
IDA: Inferred from direct assay
|
23533611 | GOA |
| involved in cardiolipin biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
19164547 | GOA |
| involved in phosphatidylcholine catabolic process |
IDA
IDA: Inferred from direct assay
|
20886109 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
18714013 | GOA |
| is active in mitochondrion |
IDA
IDA: Inferred from direct assay
|
38322995 | GOA |
PLA2G6 Protein Structure
Ank_2: Ankyrin repeats (3 copies) (170 - 246)
Ank_2: Ankyrin repeats (3 copies) (257 - 346)
Ank_2: Ankyrin repeats (3 copies) (350 - 401)
Patatin: Patatin-like phospholipase (481 - 664)
- 0
- 200
- 400
- 600
- 806 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
85/88 kDa calcium-independent phospholipase A2 |
|
PLA2G6 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PLA2G6 | O60733 | MAT2B | Homo sapiens | Q9NZL9 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | NUP93 | Homo sapiens | Q8N1F7 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | NUP93 | Homo sapiens | Q8N1F7 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | NUP93 | Homo sapiens | Q8N1F7 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | USP54 | Homo sapiens | Q70EL1-9 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | USP54 | Homo sapiens | Q70EL1-9 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | USP54 | Homo sapiens | Q70EL1-9 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | RCBTB2 | Homo sapiens | O95199 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | ccsb orf id: 8359 | Homo sapiens | EBI-16439879 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | PLA2G6 | Homo sapiens | O60733 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | RCBTB2 | Homo sapiens | O95199 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | SERTAD2 | Homo sapiens | Q14140 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | PLA2G6 | Homo sapiens | O60733 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | RUSC1 | Homo sapiens | Q9BVN2 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | SERTAD2 | Homo sapiens | Q14140 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | TRIM50 | Homo sapiens | Q86XT4 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | CEP76 | Homo sapiens | Q8TAP6 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | PLA2G6 | Homo sapiens | O60733 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | SERTAD2 | Homo sapiens | Q14140 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | CEP76 | Homo sapiens | Q8TAP6 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | ccsb orf id: 8359 | Homo sapiens | EBI-16439879 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | RUSC1 | Homo sapiens | Q9BVN2 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | RCBTB2 | Homo sapiens | O95199 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | CEP76 | Homo sapiens | Q8TAP6 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | RUSC1 | Homo sapiens | Q9BVN2 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | ZBTB42 | Homo sapiens | B2RXF5 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | ZBTB42 | Homo sapiens | B2RXF5 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | TRIM50 | Homo sapiens | Q86XT4 | 32296183 | |
|
Intra
|
PLA2G6 | O60733 | TRIM50 | Homo sapiens | Q86XT4 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodegeneration With Brain Iron Accumulation 2a |
|
|
| Parkinson Disease 14, Autosomal Recessive |
|
|
| Neurodegeneration With Brain Iron Accumulation 2b |
|
|
| Nervous System Disease |
|
|
| Karak Syndrome |
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
|
| Congenital Nervous System Abnormality |
|
|
| Spastic Ataxia |
|
|
| Aceruloplasminemia |
|
|
| Microcephaly |
|
|
| Barth Syndrome |
|
|
| Kufor-Rakeb Syndrome |
|
|
| Parkinsonism |
|
|
| Neuroaxonal Dystrophy |
|
|
| Neurodegeneration With Brain Iron Accumulation 3 |
|
|
| Acute Pancreatitis |
|
|
| Dystonia |
|
|
| Monocular Esotropia |
|
|
| Neurodegeneration With Brain Iron Accumulation 1 |
|
|
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
|
| Adult Respiratory Distress Syndrome |
|
|
| Neurodegeneration With Brain Iron Accumulation 4 |
|
|
| Hereditary Spastic Paraplegia 35 |
|
|
| Blepharitis |
|
|
| Inflammatory Bowel Disease 12 |
|
|
| Early-Onset Parkinson'S Disease |
|
|
| Cerebral Degeneration |
|
|
| Woodhouse-Sakati Syndrome |
|
|
| Neurodegeneration With Brain Iron Accumulation 5 |
|
|
| Inflammatory Bowel Disease 17 |
|
|
| Pancreas Disease |
|
|
| Oromandibular Dystonia |
|
|
| Parkinson Disease 3, Autosomal Dominant |
|
|
| Leber Optic Atrophy And Dystonia |
|
|
| Bipolar Disorder |
|
|
| Alcohol-Related Neurodevelopmental Disorder |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Gordon Holmes Syndrome |
|
|
| Movement Disease |
|
|
| Schizophrenia |
|
|
| Gaucher Disease, Type I |
|
|
| Familial Adult Myoclonic Epilepsy |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Diabetes Mellitus |
|
|
| Dementia, Lewy Body |
|
|
| Myopathy |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Melanoma, Cutaneous Malignant 1 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Leber Plus Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PLA2G6 | RGD | RGD:628867 |
| Bos taurus | PLA2G6 | VGNC | VGNC:32964 |
| Canis familiaris | PLA2G6 | VGNC | VGNC:44631 |
| Mus musculus | PLA2G6 | MGD | MGI:1859152 |
| Macaca mulatta | PLA2G6 | VGNC | VGNC:76157 |
| Felis catus | PLA2G6 | VGNC | VGNC:68883 |
| Others | PLA2G6 | NCBI |