• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PLA2G6 (HGNC:9039) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phospholipase A2 group VI
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2
%HI
35.59(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
22q13.1
Genomic Coordinates
GRCh37/hg19: chr22:38507502-38577837 NCBI Ensembl UCSC
GRCh38/hg38: chr22:38111495-38181830 NCBI Ensembl UCSC
MANE Select Transcript
NM_003560.4 ENST00000332509.8 (Read more about MANE Select)
Function
Calcium-independent phospholipase involved in phospholipid remodeling with implications in cellular membrane homeostasis, mitochondrial integrity and signal transduction. Hydrolyzes the ester bond of the fatty acyl group attached at sn-1 or sn-2 position of phospholipids (phospholipase A1 and A2 activity respectively), producing lysophospholipids that are used in deacylation-reacylation cycles (PubMed:9417066, PubMed:10092647, PubMed:10336645, PubMed:20886109). Hydrolyzes both saturated and unsa... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36146
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • neurodegeneration with brain iron accumulation Monarch
HI Evidence Comments:
Biallelic variants in the PLA2G6 gene have been associated with the diseases Parkinson disease 14, autosomal recessive, Neurodegeneration with brain iron accumulation 2A, and Neurodegeneration with brain iron accumulation 2B in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, neurodegeneration with brain iron accumulation (MONDO:0018307), has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)