MRGPRX2

protein-coding

MAS related GPR family member X2, the group of G protein-coupled receptors, Class A orphans

Gene summary

Enables G protein-coupled receptor activity and neuropeptide binding activity. Involved in several processes, including G protein-coupled receptor signaling pathway; mast cell degranulation; and positive regulation of cytokinesis. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_054030.4

Inheritance

—

ClinVar variants

U:40B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr11:19,054,455-19,060,717

External References & Databases

Ensembl (ENSG00000183695)

Transcript & Mutation Effects

hg38 • Region Span ~6.3 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 MRGPRX2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 43

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_054030.4. 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			1 clinvar			1
missense			39 clinvar	4 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	4	0	44

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_054030.4	RefSeq	NP_473371.1	1	MANE Select
ENST00000329773.3	Ensembl	ENSP00000333800.2	1	MANE Select
NM_001303615.2	RefSeq	NP_001290544.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

G protein-coupled receptor signaling pathway
sensory perception of pain
sleep
positive regulation of cytokinesis
mast cell degranulation

Molecular Function

G protein-coupled receptor activity
neuropeptide binding
mast cell secretagogue receptor activity

Cellular Component

plasma membrane
integral component of membrane
mast cell granule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329773
Coding exons: 1
Length: 6227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.367	176	190	0.925	0.0000113	2132
Missense (PolyPhen)		31	34.732	0.89255		467
Synonymous	-0.775	95	85.9	1.11	0.00000542	719
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Mast cell-specific receptor for basic secretagogues, i.e. cationic amphiphilic drugs, as well as endo- or exogenous peptides, consisting of a basic head group and a hydrophobic core (PubMed:25517090). Recognizes and binds small molecules containing a cyclized tetrahydroisoquinoline (THIQ), such as non-steroidal neuromuscular blocking drugs (NMBDs), including tubocurarine and atracurium. In response to these compounds, mediates pseudo- allergic reactions characterized by histamine release, inflammation and airway contraction (By similarity). Acts as a receptor for a number of other ligands, including peptides and alkaloids, such as cortistatin-14, proadrenomedullin N-terminal peptides PAMP-12 and, at lower extent, PAMP-20, antibacterial protein LL-37, PMX-53 peptide, beta-defensins, and complanadine A. {ECO:0000250|UniProtKB:Q3KNA1, ECO:0000269|PubMed:15823563, ECO:0000269|PubMed:21441599, ECO:0000269|PubMed:22069323, ECO:0000269|PubMed:23698749, ECO:0000269|PubMed:24930830, ECO:0000269|PubMed:25517090, ECO:0000305|PubMed:12915402}.;

Recessive Scores

pRec: 0.0833

Intolerance Scores

LoFtool: 0.602
RVIS EVS: 1.75
RVIS percentile EVS: 96.67

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.000130

Gene Damage Prediction

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