PLA2R1 phospholipase A2 receptor 1
Gene ID: 22925, updated on 17-Jun-2024Gene type: protein coding
Also known as: PLA2R; PLA2-R; PLA2IR; CLEC13C; PLA2G1R
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- Go to complete Gene record for PLA2R1
- Go to Variation Viewer for PLA2R1 variants
Summary
This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Associated conditions
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| Description | Tests |
|---|---|
| Genome-wide association of serum bilirubin levels in Korean population. GeneReviews: Not available | |
| Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. GeneReviews: Not available |
Genomic context
- Location:
- 2q24.2
- Sequence:
- Chromosome: 2; NC_000002.12 (159923933..160062615, complement)
- Total number of exons:
- 36
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLA2R1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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