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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PTH2R
parathyroid hormone 2 receptor
Chromosome 2 Β· 2q34
NCBI Gene: 5746Ensembl: ENSG00000144407.10HGNC: HGNC:9609UniProt: B4DFN8
33PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingpositive regulation of cold-induced thermogenesisplasma membraneG protein-coupled peptide receptor activityliver diseasesyndromic intellectual disabilityglomerulonephritisresponse to xenobiotic stimulus
✦AI Summary

PTH2R encodes the parathyroid hormone 2 receptor, a class B G-protein-coupled receptor that specifically binds parathyroid hormone-related peptides, particularly TIP39 (tuberoinfundibular peptide of 39 residues) 1. The receptor activates adenylyl cyclase through stimulatory G proteins (Gs), with recent structural studies revealing unique small-molecule binding sites at the cytoplasmic interface 2. PTH2R demonstrates broad tissue expression, including robust distribution throughout the central nervous system and presence in developing zebrafish otic vesicles and heart 3. In skin, PTH2R localizes to the spinous-granular layers of epidermis, where TIP39/PTH2R signaling regulates intracellular calcium and keratinocyte differentiation, with PTH2R knockout mice showing increased epidermal thickness 4. Clinical significance includes associations with skeletal disorders, as PTH2R gene variants correlate with age-related lumbar spine degenerative changes 5, and gene disruption has been linked to non-syndromic craniosynostosis 6. Environmental factors like PFOA and PFOS exposure are associated with reduced PTH2R expression in women, potentially contributing to osteoarthritis pathogenesis 7. The receptor's neurological functions include modulation of auditory, nociceptive, and sexual maturation processes 1.

Sources cited
1
PTH2R is a receptor for PTH-related peptides, particularly TIP39, and modulates neurological functions including auditory, nociceptive, and sexual maturation
PMID: 37240884
2
PTH2R activates adenylyl cyclase through Gs proteins and has unique small-molecule binding sites at the cytoplasmic interface
PMID: 37524305
3
PTH2R shows robust expression throughout the central nervous system and is present in developing zebrafish otic vesicles and heart
PMID: 21880859
4
PTH2R localizes to spinous-granular layers of epidermis and regulates keratinocyte differentiation through calcium signaling
PMID: 27000502
5
PTH2R gene variants are associated with age-related degenerative changes in the lumbar spine
PMID: 24378925
6
PTH2R gene disruption is linked to non-syndromic craniosynostosis
PMID: 26044810
7
PFOA and PFOS exposure are associated with reduced PTH2R expression in women
PMID: 25462297
Disease Associationsβ“˜20
liver diseaseOpen Targets
0.26Weak
syndromic intellectual disabilityOpen Targets
0.26Weak
glomerulonephritisOpen Targets
0.24Weak
poisoningOpen Targets
0.20Weak
response to xenobiotic stimulusOpen Targets
0.20Weak
lagophthalmosOpen Targets
0.20Weak
ovarian dysfunctionOpen Targets
0.20Weak
muscular diseaseOpen Targets
0.19Weak
malnutritionOpen Targets
0.15Weak
alcohol drinkingOpen Targets
0.13Weak
mixed connective tissue diseaseOpen Targets
0.12Weak
preeclampsiaOpen Targets
0.12Weak
adolescent idiopathic scoliosisOpen Targets
0.12Weak
obesityOpen Targets
0.11Weak
vertebral column disorderOpen Targets
0.11Weak
acute tonsillitisOpen Targets
0.10Weak
septic shockOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
placenta praeviaOpen Targets
0.07Suggestive
Abnormality of the genital systemOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)Likely pathogenic
Syndromic intellectual disability
β˜†β˜†β˜†β˜†2017β†’ Residue 158
View on ClinVar β†—
Related Genes
PTHProtein interaction100%PTHLHProtein interaction100%PTH1RProtein interaction100%PTH2Protein interaction100%GNASProtein interaction90%GNG2Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
9%
Liver
3%
Lung
1%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
PTH2RPTHPTHLHPTH1RPTH2GNASGNG2
PROTEIN STRUCTURE
Preparing viewer…
PDB7F16 Β· 2.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.30LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.04 [0.84–1.30]
RankingsWhere PTH2R stands among ~20K protein-coding genes
  • #11,392of 20,598
    Most Researched33
  • #5,239of 5,498
    Most Pathogenic Variants1
  • #13,713of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedPTH2R
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Conserved class B GPCR activation by a biased intracellular agonist.
PMID: 37524305
Nature Β· 2023
1.00
2
Evolution of the vertebrate pth2 (tip39) gene family and the regulation of PTH type 2 receptor (pth2r) and its endogenous ligand pth2 by hedgehog signaling in zebrafish development.
PMID: 21880859
J Endocrinol Β· 2011
0.90
3
PFOA and PFOS are associated with reduced expression of the parathyroid hormone 2 receptor (PTH2R) gene in women.
PMID: 25462297
Chemosphere Β· 2015
0.80
4
Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine.
PMID: 24378925
J Bone Miner Metab Β· 2015
0.70
5
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.
PMID: 26044810
J Med Genet Β· 2015
0.60