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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GPHA2
glycoprotein hormone subunit alpha 2
Chromosome 11 · 11q13.1
NCBI Gene: 170589Ensembl: ENSG00000149735.7HGNC: HGNC:18054UniProt: A0A024R579
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular regionprotein bindingthyrotropin-releasing hormone receptor bindingprotein heterodimerization activityadolescent idiopathic scoliosiscancerneoplasmachalasia-alacrima syndrome
✦AI Summary

GPHA2 (glycoprotein hormone subunit alpha 2) functions as a heterodimeric glycoprotein hormone with GPHB5 that binds and activates the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production and playing a central role in controlling thyroid cell metabolism 1. This TSH receptor-activating complex, also known as corticotroph-derived glycoprotein hormone or thyrostimulin, exhibits unique binding characteristics with two distinct TSHR binding sites, distinguishing it from classical TSH 2. Beyond thyroid function, GPHA2 serves as a surface marker of limbal progenitor cells (LPCs) in the cornea, expressed in corneal limbal crypts and identified in approximately 0.41% of cultured limbal epithelial cells 3. GPHA2 expression is lost during ex vivo limbal epithelial cell expansion, indicating its association with progenitor cell identity 3. In the pituitary, GPHA2 is expressed in quiescent stem cells downstream of NOTCH2 signaling and activates TSHR signaling via pCREB induction 4. Clinically, GPHA2 represents a novel microbiota-derived metabolite target; oral indole-3-acetic acid supplementation upregulates hepatic GPHA2 expression, activating the TSH-THR-PGC-1α-PPARγ signaling cascade to suppress lipogenic genes and alleviate high-fat-diet-induced obesity 5. Additionally, GPHA2 has been identified as a prognostic gene in triple-negative breast cancer immunogenomics 6.

Sources cited
1
GPHA2 heterodimer with GPHB5 binds and activates TSHR, increasing cAMP production and controlling thyroid cell metabolism
PMID: 12045258
2
GPHA2-GPHB5 (corticotroph-derived glycoprotein hormone) activates TSHR with unique binding characteristics including two distinct binding sites
PMID: 16210345
3
GPHA2 is a surface marker of limbal progenitor cells expressed in corneal limbal crypts and lost during ex vivo expansion
PMID: 33865984
4
GPHA2 is expressed in pituitary stem cells downstream of NOTCH2 signaling and activates TSHR signaling via pCREB
PMID: 38246572
5
Upregulation of hepatic GPHA2 expression activates TSH-THR-PGC-1α-PPARγ signaling to suppress lipogenic genes and alleviate obesity
PMID: 41416507
6
GPHA2 is identified as a prognostic gene in triple-negative breast cancer
PMID: 40796957
7
GPHA2 marks differentiated limbal stem/progenitor cell states distinct from higher stemness TP63+ and CCL20+ cells
PMID: 33964410
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.04Suggestive
cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
achalasia-alacrima syndromeOpen Targets
0.02Suggestive
inflammatory bowel diseaseOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
depressive disorderOpen Targets
0.02Suggestive
systemic sclerodermaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
interstitial lung diseaseOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
hepatitis B virus infectionOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
venous thromboembolismOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
appendicitisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADGRG4Shared pathway100%ADGRF3Shared pathway100%ADGRF4Shared pathway100%ADGRG5Shared pathway100%CGAProtein interaction89%FSHBProtein interaction89%
Tissue Expression6 tissues
Ovary
100%
Liver
52%
Lung
10%
Brain
7%
Bone Marrow
5%
Heart
0%
Gene Interaction Network
Click a node to explore
GPHA2ADGRG4ADGRF3ADGRF4ADGRG5CGAFSHB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96T91
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.51–1.29]
RankingsWhere GPHA2 stands among ~20K protein-coding genes
  • #15,270of 20,598
    Most Researched16
  • #13,618of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedGPHA2
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
A single cell atlas of human cornea that defines its development, limbal progenitor cells and their interactions with the immune cells.
PMID: 33865984
Ocul Surf · 2021
1.00
2
Oral Supplementation of Indole-3-acetic Acid Alleviates High-Fat-Induced Obesity by Activating the Gpha2-Mediated Thyroid-Stimulating Hormone Pathway.
PMID: 41416507
J Agric Food Chem · 2025
0.88
3
Immune microenvironment and prognostic genes of triple-negative breast cancer in the context of transcriptome and single-cell sequencing.
PMID: 40796957
Sci Rep · 2025
0.75
4
Glycoprotein hormone subunit alpha 2 (GPHA2): A pituitary stem cell-expressed gene associated with NOTCH2 signaling.
PMID: 38246572
Mol Cell Endocrinol · 2024
0.63
5
Molecular identity of human limbal heterogeneity involved in corneal homeostasis and privilege.
PMID: 33964410
Ocul Surf · 2021
0.50