MRGPRE

protein-coding

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

Gene summary

Enables G protein-coupled bile acid receptor activity. Involved in adenylate cyclase-activating G protein-coupled bile acid receptor signaling pathway and intracellular glucose homeostasis. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:
  • GPR167

MANE transcript

NM_001039165.4

Inheritance

—

ClinVar variants

U:28B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr11:3,225,030-3,232,417

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~7.4 kb
Loading mutation effect viewer...

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 MRGPRE variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 30

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039165.4. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
25
clinvar
2
clinvar
27
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00282030
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001039165.4RefSeqNP_001034254.21MANE Select
ENST00000389832.7EnsemblENSP00000374482.61MANE Select
ENST00001139189.1EnsemblENSP00000811454.11Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • G protein-coupled receptor signaling pathway

Molecular Function

  • G protein-coupled receptor activity

Cellular Component

  • plasma membrane
  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000436689
Coding exons
1
Length
4689
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.2352031941.050.00001341908
Missense (PolyPhen)5850.7241.1434547
Synonymous-0.4069994.01.050.00000672697
Loss of Function

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain.;

Recessive Scores

pRec
0.111

Intolerance Scores

LoFtool
0.548
RVIS EVS
0.17
RVIS percentile EVS
65.96

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.335

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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