PTH2R
Parathyroid Hormone 2 Receptor
Gene Information Card
| Symbol | PTH2R |
|---|---|
| Full Name | parathyroid hormone 2 receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 5746 ncbi.nlm.nih.gov/gene/5746 |
| Ensembl ID | ENSG00000144476 |
| UniProt ID | P49190 |
| OMIM ID | 601469 |
| HGNC ID | 9608 |
| Aliases | PTHR2, PTH2R1 |
Description
The PTH2R gene encodes the parathyroid hormone 2 receptor, a G protein-coupled receptor (GPCR) that binds parathyroid hormone (PTH) and tuberoinfundibular peptide of 39 residues (TIP39). It is primarily expressed in the brain, pancreas, and testis, and plays a role in nociception, stress response, and endocrine regulation. The receptor activates adenylate cyclase and intracellular calcium signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary hyperparathyroidism | Altered PTH signaling via PTH2R may contribute to calcium homeostasis dysregulation | Limited evidence; indirect association via PTH pathway |
| Chronic pain conditions | PTH2R activation by TIP39 modulates pain perception in the central nervous system | Preclinical studies in animal models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Pancreas | 3.8 | Medium |
| Testis | 2.1 | Low |
| Heart | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.1 | Neuronal model |
| HeLa (cervical carcinoma) | 0.2 | Low expression |
| HEK293 (embryonic kidney) | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Val153Met) | Missense | <0.01% | Potential altered ligand binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • peptide hormone binding |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway | • plasma membrane |
| • cellular response to hormone stimulus |
Pathways
• GPCR downstream signaling
• PTH-mediated regulation of calcium homeostasis
Protein Summary
The parathyroid hormone 2 receptor (PTH2R) is a 550-amino acid GPCR with seven transmembrane domains. It shares homology with the PTH1 receptor but has distinct ligand specificity for TIP39. The receptor is involved in central nervous system functions including pain modulation and stress response. Its expression is restricted to select tissues, and its signaling primarily couples to Gs proteins leading to cAMP production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTH2R Knockout HEK293 Cell Line | EDJ-KQ5589 | Human | 5746 | Details Get a Quote |
| PTH2R Knockout HeLa Cell Line | EDJ-KQ54264 | Human | 5746 | Details Get a Quote |
| PTH2R Knockout A-549 Cell Line | EDJ-KQ62756 | Human | 5746 | Details Get a Quote |
| PTH2R Knockout HCT 116 Cell Line | EDJ-KQ71225 | Human | 5746 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
