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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GPR101
G protein-coupled receptor 101
Chromosome X · Xq26.3
NCBI Gene: 83550Ensembl: ENSG00000165370.3HGNC: HGNC:14963UniProt: Q96P66
27PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor complexprotein bindingadenylate cyclase-activating adrenergic receptor signaling pathwayplasma membranegrowth hormone-secreting pituitary adenomaacromegalytype 2 diabetes mellitusX-linked acrogigantism due to Xq26 microduplication
✦AI Summary

GPR101 is an orphan G protein-coupled receptor (GPCR) of the rhodopsin-like family predominantly expressed in the hypothalamus and pituitary 1. As a class A GPCR, it couples to both Gαs and Gαi proteins, activating adenylyl cyclase-mediated signaling pathways and MAPK cascades 2. The endogenous ligand and physiological function remain unknown, though GnRH-(1-5) can activate GPR101 in vitro 2. GPR101 duplication on chromosome X.3 causes X-linked acrogigantism (XLAG), characterized by early-onset growth hormone excess and pituitary hyperplasia or adenoma 12. Increased hypothalamic GHRH secretion may contribute to pathogenesis 1. Point mutations, particularly c.924G>C (E308D) in the third intracellular loop, are associated with sporadic acromegaly and pituitary tumors 2. Additionally, GPR101 duplications can contribute to familial isolated pituitary adenomas (FIPA) presenting with pituitary gigantism 34. Clinically, pituitary tumors associated with GPR101 alterations present earlier, grow more aggressively, and show greater resistance to medical therapy compared to sporadic adenomas, requiring complex multimodal treatment approaches 3. The role of GPR101 in growth, puberty, and appetite regulation remains under investigation 4.

Sources cited
1
GPR101 duplication causes XLAG with early-onset GH excess and pituitary hyperplasia/adenoma; GPR101 expressed in hypothalamus; increased GHRH may contribute to pathogenesis
PMID: 27743704
2
GPR101 is a class A GPCR coupling to Gαs and Gαi proteins; GnRH-(1-5) activates GPR101; point mutations like E308D associated with acromegaly; duplication causes XLAG
PMID: 30711029
3
GPR101 duplications cause X-LAG with pituitary gigantism in FIPA; adenomas occur earlier, are larger, and show aggressive characteristics and resistance to medical therapy
PMID: 32083999
4
GPR101 is an orphan GPCR with no known endogenous ligand; involved in growth, puberty, and appetite regulation; Xq26.3 CNG leads to infantile gigantism
PMID: 32240984
5
GPR101 duplication on Xq26.2-q27.1 associated with X-linked acrogigantism; SOX3 duplication affects early pituitary organogenesis; GPR101 phenotype may be masked by SOX3 duplication effects
PMID: 33184694
6
GPR101 mutations predispose to pituitary tumorigenesis in familial and simplex settings; somatic mosaicism from early embryonic mutations can cause growth hormone excess
PMID: 27742789
Disease Associationsⓘ21
growth hormone-secreting pituitary adenomaOpen Targets
0.52Moderate
acromegalyOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
X-linked acrogigantism due to Xq26 microduplicationOpen Targets
0.15Weak
PainOpen Targets
0.05Suggestive
response to xenobiotic stimulusOpen Targets
0.05Suggestive
obesity due to leptin receptor gene deficiencyOpen Targets
0.04Suggestive
obesity due to congenital leptin deficiencyOpen Targets
0.03Suggestive
MODYOpen Targets
0.03Suggestive
insulin-resistance syndrome type BOpen Targets
0.03Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.03Suggestive
obesity due to prohormone convertase I deficiencyOpen Targets
0.03Suggestive
immunodeficiency 98 with autoinflammation, X-linkedOpen Targets
0.03Suggestive
gamma chain deficiencyOpen Targets
0.03Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.03Suggestive
immunodeficiency 32BOpen Targets
0.03Suggestive
hyperinsulinism due to HNF1A deficiencyOpen Targets
0.03Suggestive
autoinflammatory-pancytopenia syndrome due to DNASE2 deficiencyOpen Targets
0.03Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.03Suggestive
autoimmune diseaseOpen Targets
0.03Suggestive
Pituitary adenoma 2, growth hormone-secretingUniProt
Pathogenic Variants1
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)Pathogenic
Pituitary adenoma, growth hormone-secreting, 2
☆☆☆☆2015→ Residue 366
View on ClinVar ↗
Related Genes
AVPI1Shared pathway50%ADRB1Shared pathway29%ADRA1DShared pathway22%GPR37L1Shared pathway20%GFRALShared pathway20%PELI2Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Lung
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GPR101AVPI1ADRB1ADRA1DGPR37L1GFRALPELI2
PROTEIN STRUCTURE
Preparing viewer…
PDB8W8Q · 2.89 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.09Tolerant
Observed/Expected LoF0.49 [0.29–0.88]
RankingsWhere GPR101 stands among ~20K protein-coding genes
  • #12,576of 20,598
    Most Researched27
  • #5,285of 5,498
    Most Pathogenic Variants1
  • #7,829of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedGPR101
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Consensus on diagnosis and management of Cushing's disease: a guideline update.
PMID: 34687601
Lancet Diabetes Endocrinol · 2021
1.00
2
Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
PMID: 33184694
Pituitary · 2021
0.90
3
Germline mutations in a G protein identify signaling cross-talk in T cells.
PMID: 39298586
Science · 2024
0.80
4
Gigantism: X-linked acrogigantism and GPR101 mutations.
PMID: 27743704
Growth Horm IGF Res · 2016
0.70
5
Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly.
PMID: 30711029
Prog Mol Biol Transl Sci · 2019
0.60