PTH (Parathyroid Hormone) Gene
Key regulator of calcium and phosphate homeostasis
Gene Information Card
| Symbol | PTH |
|---|---|
| Full Name | Parathyroid Hormone |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.3 |
| NCBI Gene ID | 5741 ncbi.nlm.nih.gov/gene/5741 |
| Ensembl ID | ENSG00000152266 |
| UniProt ID | P01270 |
| OMIM ID | 168450 |
| HGNC ID | 9606 |
| Aliases | PTH1, PTH2, parathormone |
Description
The PTH gene encodes parathyroid hormone, a key regulator of calcium and phosphate metabolism. It is primarily expressed in the parathyroid glands and acts on bone and kidney to increase serum calcium levels. Mutations in PTH are associated with hypoparathyroidism and hyperparathyroidism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypoparathyroidism | Loss-of-function mutations reduce PTH secretion or activity, leading to hypocalcemia | ClinVar, OMIM |
| Hyperparathyroidism | Gain-of-function mutations or overexpression increase PTH levels, causing hypercalcemia | ClinVar, OMIM |
| Familial Isolated Hyperparathyroidism | Germline mutations in PTH gene disrupt calcium sensing or hormone processing | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Parathyroid Gland | High | High |
| Kidney | Low | Low |
| Bone | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Low | Transient expression studies |
| SaOS-2 | Low | Osteosarcoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of function; associated with hypoparathyroidism |
| c.206C>T (p.Pro69Leu) | missense | Rare | Gain of function; associated with hyperparathyroidism |
| c.254G>A (p.Arg85Gln) | missense | Rare | Dominant negative; impaired hormone processing |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce PTH secretion or activity, e.g., Met1? and truncations, cause hypoparathyroidism.
Gain of Function (GOF)
Mutations that increase PTH activity or stability, e.g., Pro69Leu, lead to hyperparathyroidism.
Dominant Negative (DN)
Mutations like Arg85Gln interfere with wild-type PTH function, causing dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity (GO:0005179) | • protein binding (GO:0005515) |
| • bone mineralization (GO:0030282) | • cellular calcium ion homeostasis (GO:0006874) |
| • plasma membrane (GO:0005886) |
Pathways
• Parathyroid hormone synthesis
• secretion and action (Reactome: R-HSA-422085)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
Parathyroid hormone (PTH) is an 84-amino acid polypeptide hormone secreted by the parathyroid glands. It regulates calcium and phosphate homeostasis by acting on bone (stimulating resorption) and kidney (increasing calcium reabsorption and phosphate excretion). PTH binds to the PTH1 receptor (PTH1R) and activates G-protein coupled signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTH Knockout HEK293 Cell Line | EDJ-KQ3175 | Human | 5741 | Details Get a Quote |
| PTHLH Knockout HEK293 Cell Line | EDJ-KQ3273 | Human | 5744 | Details Get a Quote |
| PTH1R Knockout HEK293 Cell Line | EDJ-KQ3468 | Human | 5745 | Details Get a Quote |
| PTH2R Knockout HEK293 Cell Line | EDJ-KQ5589 | Human | 5746 | Details Get a Quote |
| PTH2 Knockout HEK293 Cell Line | EDJ-KQ7407 | Human | 113091 | Details Get a Quote |
| PTHLH Knockout A-549 Cell Line | EDJ-KQ24820 | Human | 5744 | Details Get a Quote |
| PTHLH Knockout HeLa Cell Line | EDJ-KQ24821 | Human | 5744 | Details Get a Quote |
| PTH Knockout HeLa Cell Line | EDJ-KQ54262 | Human | 5741 | Details Get a Quote |
| PTH1R Knockout HeLa Cell Line | EDJ-KQ54263 | Human | 5745 | Details Get a Quote |
| PTH2R Knockout HeLa Cell Line | EDJ-KQ54264 | Human | 5746 | Details Get a Quote |
| PTH2 Knockout HeLa Cell Line | EDJ-KQ57903 | Human | 113091 | Details Get a Quote |
| PTH Knockout A-549 Cell Line | EDJ-KQ62753 | Human | 5741 | Details Get a Quote |
| PTH1R Knockout A-549 Cell Line | EDJ-KQ62755 | Human | 5745 | Details Get a Quote |
| PTH2R Knockout A-549 Cell Line | EDJ-KQ62756 | Human | 5746 | Details Get a Quote |
| PTH2 Knockout A-549 Cell Line | EDJ-KQ66396 | Human | 113091 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
