PNPLA2 patatin like phospholipase domain containing 2
Gene ID: 57104, updated on 5-Mar-2024Gene type: protein coding
Also known as: ATGL; TTS2; PEDF-R; FP17548; TTS-2.2; iPLA2zeta; 1110001C14Rik
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- Go to complete Gene record for PNPLA2
- Go to Variation Viewer for PNPLA2 variants
Summary
This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Neutral lipid storage myopathy | See labs |
Genomic context
- Location:
- 11p15.5
- Sequence:
- Chromosome: 11; NC_000011.10 (818914..825573)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PNPLA2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PNPLA2 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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