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Aliases for PTH Gene

Aliases for PTH Gene

  • Parathyroid Hormone 2 3
  • 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 pth-related familial isolated hypoparathyroidism and familial isolated hypoparathyroidism due to impaired pth secretion. Among its related pathways are Signaling by GPCR and Endochondral Ossification. 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

Genomic Location for PTH Gene

Chromosome:
11
Start:
13,492,054 bp from pter
End:
13,496,181 bp from pter
Size:
4,128 bases
Orientation:
Minus strand

Genomic View for PTH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P01270-PTHY_HUMAN
    Recommended name:
    Parathyroid hormone
    Protein Accession:
    P01270
    Secondary Accessions:
    • Q4VB48
    • Q9UD38

    Protein attributes for PTH Gene

    Size:
    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

Proteomics data for PTH Gene at MOPED

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PTH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01270

UniProtKB/Swiss-Prot:

PTHY_HUMAN :
  • Belongs to the parathyroid hormone family.
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

Animal Models for PTH Gene

MGI Knock Outs for PTH:

Animal Model Products

miRNA for PTH Gene

miRTarBase miRNAs that target PTH

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

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTH Gene COMPARTMENTS Subcellular localization image for PTH gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
lysosome 2
mitochondrion 2
nucleus 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 TAS --
GO:0005615 extracellular space IBA --
GO:0005622 intracellular 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for PTH Gene

Activates:

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

(48) Drugs for PTH Gene - From: NovoSeek, ClinicalTrials, DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cholecalciferol Approved Nutra Fat-soluble secosteroids 755,762
Alendronate Approved Pharma Inhibition, Inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 153
Calcium carbonate Approved Pharma 185
Calcitriol Approved Nutra TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 158
Teriparatide Approved, Investigational Pharma 128

(20) Additional Compounds for PTH Gene - From: NovoSeek

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

Transcripts for PTH Gene

mRNA/cDNA for PTH Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(100) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTH Gene

Parathyroid hormone:
Representative Sequences:

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

No ASD Table

Relevant External Links for PTH Gene

GeneLoc Exon Structure for
PTH
ECgene alternative splicing isoforms for
PTH

Expression for PTH Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for PTH Gene Hs.37045

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

Protein tissue co-expression partners for PTH Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia PTH 35
  • 88.7 (n)
  • 85.22 (a)
PTH 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTH 35
  • 90.43 (n)
  • 86.09 (a)
PTH 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pth 35
  • 78.55 (n)
  • 67.83 (a)
Pth 16
Pth 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTH 35
  • 100 (n)
  • 100 (a)
PTH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pth 35
  • 78.26 (n)
  • 71.3 (a)
oppossum
(Monodelphis domestica)
Mammalia PTH 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTH 35
  • 67.3 (n)
  • 55.24 (a)
PTH 36
  • 49 (a)
OneToOne
Species with no ortholog for PTH:
  • 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

ENSEMBL:
Gene Tree for PTH (if available)
TreeFam:
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 MAF
rs694 -- 13,492,870(-) TGCTT(A/G)TCCTT intron-variant
rs6254 -- 13,492,716(-) ATTTC(A/G/T)AAGTG intron-variant
rs6256 Pathogenic, Pathogenic 13,492,506(-) GGCCC(A/C/T)GAAAA synonymous-codon, reference
rs10189 -- 13,492,131(-) CTTTT(A/T)AACCT utr-variant-3-prime
rs177706 -- 13,492,958(-) TTCTC(A/G)TGAAA intron-variant

Variation tolerance for PTH Gene

Residual Variation Intolerance Score: 45.29% 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

HapMap Linkage Disequilibrium report
PTH
Human Gene Mutation Database (HGMD)
PTH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PTH Gene

Disorders for PTH Gene

MalaCards: The human disease database

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

- elite association
Search PTH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

Publications for PTH Gene

  1. The same annual dose of 292000 IU of vitamin D (cholecalciferol) on either daily or four monthly basis for elderly women: 1-year comparative study of the effects on serum 25(OH)D concentrations and renal function. (PMID: 19486025) Pekkarinen T. … VAolimAoki M.J. (Clin. Endocrinol. (Oxf) 2010) 23 67
  2. Influence of chronic renal failure on acid secretion in isolated gastric mucosal cells from human biopsies. (PMID: 20380354) Gladziwa U. … Gallitzendoerfer R. (Clin. Lab. 2010) 23 67
  3. Results of cryopreserved parathyroid autografts: a retrospective multicenter study. (PMID: 20153007) Borot S. … Penfornis A. (Surgery 2010) 23 67
  4. Genes up- or down-regulated by high calcium medium in parathyroid tissue explants from patients with primary hyperparathyroidism. (PMID: 19952464) Nakajima K. … Sato K. (Endocr. J. 2010) 23 67
  5. Minireview: the play of proteins on the parathyroid hormone messenger ribonucleic Acid regulates its expression. (PMID: 20032048) Naveh-Many T. (Endocrinology 2010) 23 67

Products for PTH Gene

Sources for PTH Gene

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