The PLA2G6 gene homepage

General information
Gene symbol PLA2G6
Gene name phospholipase A2, group VI (cytosolic, calcium-independent)
Chromosome 22
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_007094.1
Transcript reference NM_001004426.1, NM_001199562.1, NM_003560.2, XM_005261764.1, XM_005261765.1, XM_005261766.1, XM_005261767.1, XM_005261768.1, XM_005261769.1, XM_005261770.1, XM_005261771.1, XM_005261772.1
Associated with diseases ID, NBIA-2B, PARK-14, dystrophy, neuroaxonal, infantile, type 1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 193
Unique public DNA variants reported 27
Individuals with public variants 35
Hidden variants 191
Date created October 30, 2013
Date last updated September 28, 2016
Version PLA2G6:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:9039
Entrez Gene 8398
PubMed articles PLA2G6
OMIM - Gene 603604
OMIM - Diseases NBIA-2B (neurodegeneration, with brain iron accumulation, type 2B (NBIA-2B))
PARK-14 (Parkinson disease, type 14 (PARK-14))
dystrophy, neuroaxonal, infantile, type 1
HGMD PLA2G6
GeneCards PLA2G6
GeneTests PLA2G6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005883 22 transcript variant 3 NM_001199562.1 NP_001186491.1 193
00018815 22 Manually created transcript. NM_001004426.1 - 193
00018816 22 Manually created transcript. (removed from reference sequence) NM_003560.2 - 193
00042582 22 transcript variant X2 XM_005261765.1 XP_005261822.1 -
00042583 22 transcript variant X4 XM_005261767.1 XP_005261824.1 -
00042584 22 transcript variant X5 XM_005261768.1 XP_005261825.1 -
00042585 22 transcript variant X3 XM_005261766.1 XP_005261823.1 -
00042586 22 transcript variant X6 XM_005261769.1 XP_005261826.1 -
00042587 22 transcript variant X1 XM_005261764.1 XP_005261821.1 -
00042588 22 transcript variant X7 XM_005261770.1 XP_005261827.1 -
00042589 22 transcript variant X9 XM_005261772.1 XP_005261829.1 -
00042590 22 transcript variant X8 XM_005261771.1 XP_005261828.1 -


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