GeneBe

GLP1R

protein-coding

glucagon like peptide 1 receptor, the group of Glucagon receptor family

Gene summary

This gene encodes a 7-transmembrane receptor for glucagon-like peptide 1 (GLP-1), which stimulates glucose-dependent insulin secretion. The receptor, located on the cell surface, is internalized upon ligand binding and triggers signaling pathways that regulate insulin release, appetite, gastric emptying, and energy balance. It also has neuroprotective and cardiovascular effects. Polymorphisms in this gene are linked to type 2 diabetes risk, and the receptor is a key drug target for diabetes, obesity, and stroke therapies. [provided by RefSeq, Mar 2026]

MANE transcript

NM_002062.5

Inheritance

—

ClinVar variants

U:34B:12

Top phenotype

Type 2 diabetes mellitus

gnomAD constraint

pLI —, LoF o/e 0.23

Max pathogenic AF

—

Genomic locus

chr6:39,048,781-39,091,303

External References & Databases

Ensembl (ENSG00000112164)NCBI Gene (2740)OMIM (138032)HGNC:4324GenCCUniProt (P43220)AlphaFoldClinVar (GLP1R)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~42.5 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 GLP1R variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 36
not providedTotal: 10
Type 2 diabetes mellitusTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002062.5. 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
7
clinvar
 9
missense
34
clinvar
2
clinvar
1
clinvar
 37
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00344846
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_002062.5RefSeqNP_002053.313MANE Select
ENST00000373256.5EnsemblENSP00000362353.413MANE Select
ENST00001044998.1EnsemblENSP00000714815.18Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • cAMP signaling pathway - Homo sapiens (human)
  • Neuroactive ligand-receptor interaction - Homo sapiens (human)
  • Insulin secretion - Homo sapiens (human)
  • GPCRs, Class B Secretin-like
  • Signaling by GPCR

Biological Process

  • cell surface receptor signaling pathway
  • G protein-coupled receptor signaling pathway
  • adenylate cyclase-activating G protein-coupled receptor signaling pathway
  • activation of adenylate cyclase activity
  • positive regulation of cytosolic calcium ion concentration

Molecular Function

  • transmembrane signaling receptor activity
  • glucagon receptor activity
  • protein binding
  • G protein-coupled peptide receptor activity
  • peptide hormone binding

Cellular Component

  • plasma membrane
  • integral component of plasma membrane
  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000373256
Coding exons
13
Length
38946
Individuals with no LoFs
125732
Homozygous LoFs
0
Heterozygous LoFs
15
Defined
125747
p
0.0000596
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.681932710.7130.00001592991
Missense (PolyPhen)71105.250.674611179
Synonymous-1.061291151.130.00000719898
Loss of Function3.90730.10.2330.00000154303

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000620.000062rare
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish0.0000460.000046rare
European (Non-Finnish)0.0000970.000097rare
South Asian0.0000660.000065rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: G-protein coupled receptor for glucagon-like peptide 1 (GLP-1) (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levels (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Plays a role in regulating insulin secretion in response to GLP-1 (By similarity). {ECO:0000250|UniProtKB:O35659, ECO:0000269|PubMed:19861722, ECO:0000269|PubMed:26308095, ECO:0000269|PubMed:27196125, ECO:0000269|PubMed:28514449, ECO:0000269|PubMed:7517895, ECO:0000269|PubMed:8216285, ECO:0000269|PubMed:8405712}.;

Recessive Scores

pRec
0.257

Intolerance Scores

LoFtool
0.648
RVIS EVS
0.13
RVIS percentile EVS
63.57

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.759

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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