PLA2R1 phospholipase A2 receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLA2R1provided by HGNC
Official Full Name: phospholipase A2 receptor 1provided by HGNC
Primary source: HGNC:HGNC:9042
See related: Ensembl:ENSG00000153246 MIM:604939; AllianceGenome:HGNC:9042
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PLA2R; PLA2-R; PLA2IR; CLEC13C; PLA2G1R
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]
Expression: Broad expression in thyroid (RPKM 11.6), kidney (RPKM 5.9) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q24.2

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (159923933..160062615, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (160390236..160520476, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (160788517..160919126, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phospholipid metabolism-related genotypes of PLA2R1 and CERS4 contribute to nonobese MASLD.
Title: Phospholipid metabolism-related genotypes of PLA2R1 and CERS4 contribute to nonobese MASLD.
Ectodomain shedding of PLA2R1 is mediated by the metalloproteases ADAM10 and ADAM17.
Title: Ectodomain shedding of PLA2R1 is mediated by the metalloproteases ADAM10 and ADAM17.
Organelle resolved proteomics uncovers PLA2R1 as a novel cell surface marker required for chordoma growth.
Title: Organelle resolved proteomics uncovers PLA2R1 as a novel cell surface marker required for chordoma growth.
The Role of PLA2R in Primary Membranous Nephropathy: Do We Still Need a Kidney Biopsy?
Title: The Role of PLA2R in Primary Membranous Nephropathy: Do We Still Need a Kidney Biopsy?
[Mechanism of podocyte pyroptosis aggravated by up-regulation of phospholipase A2 receptor by hepatitis B virus X protein].
Title: [Mechanism of podocyte pyroptosis aggravated by up-regulation of phospholipase A(2) receptor by hepatitis B virus X protein].
Comprehensively characterizing cellular changes and the expression of THSD7A and PLA2R1 under multiple in vitro models of podocyte injury.
Title: Comprehensively characterizing cellular changes and the expression of THSD7A and PLA2R1 under multiple in vitro models of podocyte injury.
Association of serum mannose-binding lectin, anti-phospholipase A2 receptor antibody and renal outcomes in idiopathic membranous nephropathy and atypical membranous nephropathy: a single center retrospective cohort study.
Title: Association of serum mannose-binding lectin, anti-phospholipase A2 receptor antibody and renal outcomes in idiopathic membranous nephropathy and atypical membranous nephropathy: a single center retrospective cohort study.
Associations between m-type phospholipase A2 receptor,human leukocyte antigen gene polymorphisms and idiopathic membranous nephropathy.
Title: Associations between m-type phospholipase A2 receptor,human leukocyte antigen gene polymorphisms and idiopathic membranous nephropathy.
Seropositive PLA2R-associated membranous nephropathy but biopsy-negative PLA2R staining.
Title: Seropositive PLA2R-associated membranous nephropathy but biopsy-negative PLA2R staining.
Single-Cell Profiling Reveals Transcriptional Signatures and Cell-Cell Crosstalk in Anti-PLA2R Positive Idiopathic Membranous Nephropathy Patients.
Title: Single-Cell Profiling Reveals Transcriptional Signatures and Cell-Cell Crosstalk in Anti-PLA2R Positive Idiopathic Membranous Nephropathy Patients.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of serum bilirubin levels in Korean population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-35506 (e-PCR)
- UniSTS:70548

RH45253 (e-PCR)
- UniSTS:16558

RH103944 (e-PCR)
- UniSTS:98269

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables phospholipase binding	IEA Inferred from Electronic Annotation more info
enables phospholipase binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of arachidonate secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phospholipase A2 activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in oxidative stress-induced premature senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of arachidonate secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of podocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor-mediated endocytosis	IEA Inferred from Electronic Annotation more info
involved_in replicative senescence	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: secretory phospholipase A2 receptor

Names: 180 kDa secretory phospholipase A2 receptor; C-type lectin domain family 13 member C; M-type receptor; phospholipase A2 receptor 1, 180kD; phospholipase A2 receptor 1, 180kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001007267.3 → NP_001007268.1 secretory phospholipase A2 receptor isoform 2 precursor

See identical proteins and their annotated locations for NP_001007268.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein. It encodes a secreted isoform (2), which lacks a C-terminal transmembrane region found in isoform 1.

Source sequence(s)

AC080166, AC093873, AI672072, AL598405, BC140823, BP351340, W15508

Consensus CDS

CCDS42767.1

UniProtKB/Swiss-Prot

Q13018

Related

ENSP00000376524.1, ENST00000392771.1

Conserved Domains (5) summary

smart00059
Location:171 → 219

FN2; Fibronectin type 2 domain

cd00037
Location:242 → 356

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

smart00034
Location:378 → 502

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00458
Location:43 → 151

RICIN; Ricin-type beta-trefoil

cd00161
Location:39 → 119

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
NM_001195641.2 → NP_001182570.1 secretory phospholipase A2 receptor isoform 3 precursor

See identical proteins and their annotated locations for NP_001182570.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AC080166, AC093873, BC144631, BP351340, U17033

UniProtKB/TrEMBL

B7ZML4

Conserved Domains (5) summary

smart00059
Location:171 → 219

FN2; Fibronectin type 2 domain

cd00037
Location:242 → 356

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

smart00034
Location:378 → 502

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00458
Location:43 → 151

RICIN; Ricin-type beta-trefoil

cd00161
Location:39 → 119

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
NM_007366.5 → NP_031392.3 secretory phospholipase A2 receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_031392.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC080166, AC093873, BC140823, BP351340, U17033

Consensus CDS

CCDS33309.1

UniProtKB/Swiss-Prot

B2RTU9, D3DPB1, Q13018, Q13019, Q15095, Q53R45, Q53RR7

Related

ENSP00000283243.7, ENST00000283243.13

Conserved Domains (5) summary

smart00059
Location:171 → 219

FN2; Fibronectin type 2 domain

cd00037
Location:242 → 356

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

smart00034
Location:378 → 502

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00458
Location:43 → 151

RICIN; Ricin-type beta-trefoil

cd00161
Location:39 → 119

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

159923933..160062615 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443729.1 → XP_047299685.1 secretory phospholipase A2 receptor isoform X1

UniProtKB/Swiss-Prot

B2RTU9, D3DPB1, Q13018, Q13019, Q15095, Q53R45, Q53RR7
XM_047443730.1 → XP_047299686.1 secretory phospholipase A2 receptor isoform X2

UniProtKB/TrEMBL

B7ZML4
XM_011510820.4 → XP_011509122.1 secretory phospholipase A2 receptor isoform X1

See identical proteins and their annotated locations for XP_011509122.1

UniProtKB/Swiss-Prot

B2RTU9, D3DPB1, Q13018, Q13019, Q15095, Q53R45, Q53RR7

Conserved Domains (5) summary

smart00059
Location:171 → 219

FN2; Fibronectin type 2 domain

cd00037
Location:242 → 356

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

smart00034
Location:378 → 502

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00458
Location:43 → 151

RICIN; Ricin-type beta-trefoil

cd00161
Location:39 → 119

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
XM_005246392.5 → XP_005246449.1 secretory phospholipase A2 receptor isoform X1

See identical proteins and their annotated locations for XP_005246449.1

UniProtKB/Swiss-Prot

B2RTU9, D3DPB1, Q13018, Q13019, Q15095, Q53R45, Q53RR7

Conserved Domains (5) summary

smart00059
Location:171 → 219

FN2; Fibronectin type 2 domain

cd00037
Location:242 → 356

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

smart00034
Location:378 → 502

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00458
Location:43 → 151

RICIN; Ricin-type beta-trefoil

cd00161
Location:39 → 119

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
XM_017003598.2 → XP_016859087.1 secretory phospholipase A2 receptor isoform X1

UniProtKB/Swiss-Prot

B2RTU9, D3DPB1, Q13018, Q13019, Q15095, Q53R45, Q53RR7

Conserved Domains (5) summary

smart00059
Location:171 → 219

FN2; Fibronectin type 2 domain

cd00037
Location:242 → 356

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

smart00034
Location:378 → 502

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00458
Location:43 → 151

RICIN; Ricin-type beta-trefoil

cd00161
Location:39 → 119

RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
XM_017003599.2 → XP_016859088.1 secretory phospholipase A2 receptor isoform X3
XM_047443731.1 → XP_047299687.1 secretory phospholipase A2 receptor isoform X4
XM_017003601.3 → XP_016859090.1 secretory phospholipase A2 receptor isoform X5