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Aliases for PTH Gene

Aliases for PTH Gene

  • Parathyroid Hormone 2 3 5
  • Parathormone 2 3 4
  • Parathyrin 2 3 4
  • Preproparathyroid Hormone 2 3
  • Parathyroid Hormone 1 2 3
  • Prepro-PTH 2 3
  • PTH1 3

External Ids for PTH Gene

Previous GeneCards Identifiers for PTH Gene

  • GC11M014784
  • GC11M014262
  • GC11M013552
  • GC11M013477
  • GC11M013193

Summaries for PTH Gene

Entrez Gene Summary for PTH Gene

  • This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for PTH Gene

PTH (Parathyroid Hormone) is a Protein Coding gene. Diseases associated with PTH include Hypoparathyroidism, Familial Isolated and Pth-Related Familial Isolated Hypoparathyroidism. Among its related pathways are Signaling by GPCR and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. GO annotations related to this gene include hormone activity and peptide hormone receptor binding.

UniProtKB/Swiss-Prot for PTH Gene

  • PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.

Gene Wiki entry for PTH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTH Gene

Genomics for PTH Gene

Regulatory Elements for PTH Gene

Enhancers for PTH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F013448 1.2 Ensembl ENCODE 10.1 +47.0 46981 1.2 JUND ATF3 ZNF175 CEBPB FOXJ2 TRIM24 SETDB1 BTBD10 PTH GC11P013405
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PTH on UCSC Golden Path with GeneCards custom track

Genomic Location for PTH Gene

13,492,054 bp from pter
13,496,181 bp from pter
4,128 bases
Minus strand

Genomic View for PTH Gene

Genes around PTH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTH Gene

Proteins for PTH Gene

  • Protein details for PTH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Parathyroid hormone
    Protein Accession:
    Secondary Accessions:
    • Q4VB48
    • Q9UD38

    Protein attributes for PTH Gene

    115 amino acids
    Molecular mass:
    12861 Da
    Quaternary structure:
    • Interacts with PTH1R (via N-terminal extracellular domain).

    Three dimensional structures from OCA and Proteopedia for PTH Gene

neXtProt entry for PTH Gene

Post-translational modifications for PTH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PTH Gene

Domains & Families for PTH Gene

Gene Families for PTH Gene

Protein Domains for PTH Gene


Suggested Antigen Peptide Sequences for PTH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the parathyroid hormone family.
  • Belongs to the parathyroid hormone family.
genes like me logo Genes that share domains with PTH: view

Function for PTH Gene

Molecular function for PTH Gene

GENATLAS Biochemistry:
parathyroid hormone,9.5kDa,formed from a 12.5kDa precursor
UniProtKB/Swiss-Prot Function:
PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.

Gene Ontology (GO) - Molecular Function for PTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IMP 17696759
GO:0005179 hormone activity IEA --
GO:0031856 parathyroid hormone receptor binding IBA --
GO:0031857 type 1 parathyroid hormone receptor binding IEA --
GO:0051428 peptide hormone receptor binding IDA 19674967
genes like me logo Genes that share ontologies with PTH: view
genes like me logo Genes that share phenotypes with PTH: view

Human Phenotype Ontology for PTH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTH Gene

MGI Knock Outs for PTH:
  • Pth tm1Dgo
  • Pth tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for PTH Gene

miRTarBase miRNAs that target PTH

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PTH Gene

Localization for PTH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTH Gene


Subcellular locations from

Jensen Localization Image for PTH Gene COMPARTMENTS Subcellular localization image for PTH gene
Compartment Confidence
extracellular 5
nucleus 4
cytosol 3
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
lysosome 2
mitochondrion 2
vacuole 2
endosome 1

Gene Ontology (GO) - Cellular Components for PTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS,TAS --
GO:0005615 extracellular space IBA --
GO:0005622 intracellular IEA --
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with PTH: view

Pathways & Interactions for PTH Gene

genes like me logo Genes that share pathways with PTH: view

SIGNOR curated interactions for PTH Gene


Gene Ontology (GO) - Biological Process for PTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 17696759
GO:0001501 skeletal system development TAS 10913913
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS 7797535
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with PTH: view

Drugs & Compounds for PTH Gene

(68) Drugs for PTH Gene - From: DrugBank, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cholecalciferol Approved Nutra Fat-soluble secosteroids 851,845
Alendronate Approved Pharma Inhibition, Inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 160
Calcium carbonate Approved Pharma 208
Calcitriol Approved Nutra TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 201
Canagliflozin Approved Pharma Inhibition, Inhibitor SGLT2 inhibitor,potent and selective 107

(19) Additional Compounds for PTH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for PTH Gene

Compound Action Cas Number
Parathyroid hormone (1-34) (human) Increases blood calcium level 52232-67-4
Parathyroid Hormone (1-34), bovine Enhancer of blood calcium level 12583-68-5
genes like me logo Genes that share compounds with PTH: view

Transcripts for PTH Gene

mRNA/cDNA for PTH Gene

Unigene Clusters for PTH Gene

Parathyroid hormone:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTH Gene

No ASD Table

Relevant External Links for PTH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTH Gene

This gene is overexpressed in Stomach (x6.4) and Thyroid (x6.1).

Protein differential expression in normal tissues from HIPED for PTH Gene

This gene is overexpressed in Serum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PTH Gene

Protein tissue co-expression partners for PTH Gene

NURSA nuclear receptor signaling pathways regulating expression of PTH Gene:


SOURCE GeneReport for Unigene cluster for PTH Gene:

genes like me logo Genes that share expression patterns with PTH: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PTH Gene

Orthologs for PTH Gene

This gene was present in the common ancestor of chordates.

Orthologs for PTH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PTH 34 35
  • 100 (n)
(Canis familiaris)
Mammalia PTH 34 35
  • 90.43 (n)
(Bos Taurus)
Mammalia PTH 34 35
  • 88.7 (n)
(Mus musculus)
Mammalia Pth 34 16 35
  • 78.55 (n)
(Rattus norvegicus)
Mammalia Pth 34
  • 78.26 (n)
(Monodelphis domestica)
Mammalia PTH 35
  • 45 (a)
(Gallus gallus)
Aves PTH 34 35
  • 67.3 (n)
Species where no ortholog for PTH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PTH Gene

Gene Tree for PTH (if available)
Gene Tree for PTH (if available)

Paralogs for PTH Gene

No data available for Paralogs for PTH Gene

Variants for PTH Gene

Sequence variations from dbSNP and Humsavar for PTH Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894271 Hypoparathyroidism, familial isolated (FIH) [MIM:146200], Pathogenic 13,492,804(-) CAATT(C/T)GTTTT reference, missense
rs104894272 Hypoparathyroidism, familial isolated (FIH) [MIM:146200], Pathogenic 13,492,789(-) CAAAA(C/T)CGGAT reference, missense
rs6256 Pathogenic 13,492,506(-) GGCCC(A/C)GAAAA reference, synonymous-codon
rs387907454 Uncertain significance 13,492,631(-) GCATA(A/G)CCTGG reference, missense
rs387907455 Uncertain significance 13,492,453(-) GGAGA(A/G/T)GCAGA reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for PTH Gene

Variant ID Type Subtype PubMed ID
nsv1053021 CNV gain 25217958

Variation tolerance for PTH Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.09; 2.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTH Gene

Disorders for PTH Gene

MalaCards: The human disease database

(78) MalaCards diseases for PTH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypoparathyroidism, familial isolated
  • hypoparathyroidism, autosomal dominant
pth-related familial isolated hypoparathyroidism
  • hypoparathyroidism, idiopathic
renal osteodystrophy
  • renal rickets
secondary hyperparathyroidism of renal origin
  • hyperparathyroidism due to renal insufficiency
- elite association - COSMIC cancer census association via MalaCards
Search PTH in MalaCards View complete list of genes associated with diseases


  • Hypoparathyroidism, familial isolated (FIH) [MIM:146200]: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps. {ECO:0000269 PubMed:10523031, ECO:0000269 PubMed:2212001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PTH Gene

hypoparathyroidism,familial,isolated,dominant and recessive types

Relevant External Links for PTH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Tumor Gene Database (TGDB):
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PTH: view

Publications for PTH Gene

  1. Associations of vitamin D receptor, calcium-sensing receptor and parathyroid hormone gene polymorphisms with calcium homeostasis and peripheral bone density in adult Finns. (PMID: 19690432) Laaksonen M.M. … Lamberg-Allardt C.J. (J Nutrigenet Nutrigenomics 2009) 3 22 46 64
  2. [Polymorphism of parathyroid hormone gene and its association with bone mineral density of Han nationality women in Beijing area]. (PMID: 12905817) Li M. … Xing X.P. (Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2001) 3 22 46 64
  3. Stimulation of glucose transport in osteoblastic cells by parathyroid hormone and insulin-like growth factor I. (PMID: 21076856) Zoidis E. … Schmid C. (Mol. Cell. Biochem. 2011) 3 4 64
  4. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 64
  5. IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. (PMID: 19874204) Guo Y. … Deng H.W. (J. Bone Miner. Res. 2010) 3 46 64

Products for PTH Gene

Sources for PTH Gene

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