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Symbol PTH contributors: mct/npt/pgu - updated : 21-12-2017
HGNC name parathyroid hormone
HGNC id 9606
Corresponding disease
PTH hypoparathyroidism, familial, isolated
Location 11p15.2      Physical location : 13.513.601 - 13.517.567
Synonym name
  • parathyrin
  • parathormone
  • parathyroid hormone 1
  • Synonym symbol(s) PTHY, PTH1
    TYPE functioning gene
    STRUCTURE 4.13 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - D11S12 - D11S191 - D11S30 - HB-NA@ - HPX - D11S657 - D11S466 - D11S431 - WEE1 - LMO2 - CALCA - D11S188 - PTH PTH ,D11S187 - MYOD1 - cen
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 828 - 115 - 2015 25554227
    3 - 858 - 147 - 2015 25554227
    Type restricted
    constitutive of
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   specific
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    isoforms Precursor synthesized as a 115-aa precursor in the parathyroid gland and is converted to the pro-PTH upon removal of the signal peptide (by signal peptidase) within the endoplasmic reticulum (ER). After trafficking to the Golgi apparatus, the pro-PTH is cleaved to the 84-aa mature PTH
  • parathyroid hormone family
  • CATEGORY signaling hormone , receptor membrane G
    basic FUNCTION
  • elevating calcium level by dissolving the salts in bone and preventing their renal excretion
  • stimulating osteoclast formation by binding to its receptor on stromal/osteoblastic cells and stimulating the production of receptor activator of NFkappaB ligand (RANKL) and inhibiting the expression of osteoprotegerin (OPG)
  • playing a predominant role in appositional bone growth
  • completely suppressed the transcriptional activity of the SOST bone enhancer but did not affect the SOST promoter
  • can regulate the expression of IL18 in osteoblastic cells
  • acts via protein kinase A (PKA) to phosphorylate and stimulate the transactivation of RUNX2 for MMP13 promoter activation
  • PTH and IL21R both have potential biologic functions important to bone metabolism (Pubmed 19874204)
  • suppresses insulin signaling in adipocytes
  • may be having a protective effect on mesenchymal stem cells that reduces stress phenomena and preserve genome integrity
  • in the absence of POSTN, bone formation is impaired and PTH is unable to effectively improve cortical structure and strength
  • upregulates the expression of the receptor activator of TNFSF11 in cells of the osteoblastic lineage
  • role for PTH in the development of vascular dementia
  • effects of PTH are mediated not only by osteoblasts and osteocytes but also by T cells
    signaling hormonal
    a component
    small molecule
  • collaborating with CYP27B1 in modulating skeletal and calcium homeostasis
  • inhibiting SOST transcription
  • binding with PTHR modified by mutation of PTH and PTHLH (induce a conformational change in the PTH1R that promotes arrestin binding and dissociates SlC9A3R1 from PTH1R internalization)
  • regulate EFNBB2 to act in a paracrine or autocrine manner on EEPHB4 or EPHB2 in the osteoblast
  • GNAQ signal plays an inhibitory role in the PTH osteoanabolic action, suggesting that its suppression may lead to a novel treatment in combination with PTH against osteoporosis
  • interacting with ELF4 (is involved in PTH suppression of osteoblasts through activating the MAP2K4/MAPK8 pathway and subsequently up-regulating MAB21L1 expression
  • anabolic action of PTH on bone formation requires FGF2
  • is a novel PTH-responsive factor regulating immune cells and PTH actions on marrow hematopoietic progenitor cells
  • PRG4 is a PTH-responsive gene in bone and liver, and is a dynamic regulator of skeletogenesis and PTH skeletal anabolism
  • POSTN could be involved in the regulation of SOST expression and bone anabolism in response to PTH
  • LRP6 is required for parathyroid hormone (PTH)-stimulated signaling pathways in osteoblasts
  • PTH upregulates TNFSF11 expression in osteocytes and resorption induced by PTH receptor signaling in the adult skeleton requires direct regulation of the TNFSF11 gene in osteocytes
  • activates the orphan nuclear receptor NR4A2 to induce FGF23 transcription
  • PTH is a major regulator of both transcription and translation, and KHSRP binds SLC34A1 mRNA but its role in PTH regulation of SLC34A1 mRNA is not clear
  • PTH can stimulate a novel negative feedback of its anabolic actions by stimulating TNFSF1l and PTGS2 expression
  • the kidney expresses a CASR that might directly contribute to the regulation of many aspects of renal function in a PTH-independent manner
  • cell & other
    corresponding disease(s) PTH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in coronary artery diseases, and there is a correlation between high PTH level with hypertension and low ejection fraction
    constitutional     --low  
    in patients with T2DM that have decreased PTH levels (22337915)
  • to hypocalcemia (modifier of CASR)
  • to modification of serum 25(OH)-vitamin D level
  • Variant & Polymorphism SNP
  • significant association between specific PTH gene promoter region variants and altered levels of 25(OH)D and vitamin D deficiency
  • Candidate gene
  • usefulness of PTH is a predictor of heart failure with preserved ejection fraction
  • Therapy target