GPR87

protein-coding

G protein-coupled receptor 87, the group of G protein-coupled receptors, Class A orphans

Gene summary

This gene encodes a G protein-coupled receptor and is located in a cluster of G protein-couple receptor genes on chromosome 3. The encoded protein has been shown to be overexpressed in lung squamous cell carcinoma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011]

Previous symbols:

GPR95

MANE transcript

NM_023915.4

Inheritance

—

ClinVar variants

U:60B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr3:151,294,086-151,316,820

External References & Databases

Ensembl (ENSG00000138271)

Transcript & Mutation Effects

hg38 • Region Span ~22.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GPR87 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 59

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_023915.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			60 clinvar	3 clinvar		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	3	0	63

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_023915.4	RefSeq	NP_076404.3	2	MANE Select
ENST00000260843.5	Ensembl	ENSP00000260843.4	2	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Class A Rhodopsin-like

Biological Process

G protein-coupled receptor signaling pathway
negative regulation of adenylate cyclase activity
biological_process
G protein-coupled purinergic nucleotide receptor signaling pathway

Molecular Function

G protein-coupled purinergic nucleotide receptor activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000260843
Coding exons: 2
Length: 22850
Individuals with no LoFs: 125701
Homozygous LoFs: 1
Heterozygous LoFs: 41
Defined: 125743
p: 0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.264	207	197	1.05	0.0000104	2366
Missense (PolyPhen)		104	99.872	1.0413		1215
Synonymous	-0.522	82	76.2	1.08	0.00000447	688
Loss of Function	0.506	9	10.8	0.834	6.92e-7	136

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00017	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00044	0.00044	rare
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.00014	0.00014	rare
South Asian	0.00023	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor for lysophosphatidic acid (LPA). Necessary for p53/TP53-dependent survival in response to DNA damage. {ECO:0000269|PubMed:17905198, ECO:0000269|PubMed:19602589}.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.553
RVIS EVS: 0.35
RVIS percentile EVS: 74.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.136

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium