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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

  • The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH). [provided by RefSeq, Jul 2008]

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 Signaling by GPCR. 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

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:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PTH Gene

Domains for PTH Gene

Gene Families for PTH Gene

HGNC:

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 :
  • P01270
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 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity 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

CRISPR Products

miRNA for PTH Gene

miRTarBase miRNAs that target PTH

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 3
plasma membrane 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2

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 --
genes like me logo Genes that share ontologies with PTH: view

Pathways for PTH Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006366 transcription from RNA polymerase II promoter IMP 17696759
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS 7797535
genes like me logo Genes that share ontologies with PTH: view

Compounds for PTH Gene

(1) HMDB Compounds for PTH Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for PTH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Norleucine
target

(51) Novoseek inferred chemical compound relationships for PTH Gene

Compound -log(P) Hits PubMed IDs
25-hydroxyvitamin d 76.4 23
vitamin d 74.5 51
calcitriol 72.5 28
calcium 71.4 183
deoxypyridinoline 66.3 12
genes like me logo Genes that share compounds with PTH: view

Transcripts for PTH Gene

mRNA/cDNA for PTH Gene

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

Unigene Clusters for PTH Gene

Parathyroid hormone:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTH

Primer 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
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 (6.4) and Thyroid (6.1).

Integrated Proteomics: protein expression 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 expressions with PTH: view

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
chimpanzee
(Pan troglodytes)
Mammalia PTH 35
  • 100 (n)
  • 100 (a)
PTH 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia PTH 36
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pth 35
  • 78.26 (n)
  • 71.3 (a)
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)AAGTG intron-variant
rs6256 Pathogenic 13,492,506(-) GGCCC(A/C/T)GAAAA reference, stop-gained
rs10189 -- 13,492,131(-) CTTTT(A/T)AACCT utr-variant-3-prime
rs177706 -- 13,492,958(-) TTCTC(A/G)TGAAA intron-variant

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

(1) OMIM Diseases for PTH Gene (168450)

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.

(53) Novoseek inferred disease relationships for PTH Gene

Disease -log(P) Hits PubMed IDs
hyperparathyroidism secondary 81.4 18
hypercalcemia 80.8 51
hyperparathyroidism primary 80.5 27
parathyroid adenoma 79.5 13
hyperparathyroidism 74.5 13

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

Publications for PTH Gene

  1. Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies. (PMID: 1672845) Tonoki H. … Niikawa N. (Cytogenet. Cell Genet. 1991) 2 3 23
  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 23 48
  3. 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 23 48
  4. Control of the SOST bone enhancer by PTH using MEF2 transcription factors. (PMID: 17696759) Leupin O. … Keller H. (J. Bone Miner. Res. 2007) 3 23
  5. The role of cyclase activating (CAP) and cyclase inhibiting (CIP) parathormone fractions in the assessment of bone metabolism disturbances in women with hyperprolactinemia of various origin. (PMID: 18283239) Zadrozna-Sliwka B. … Syrycka J. (Neuro Endocrinol. Lett. 2008) 3 23

Products for PTH Gene

Sources for PTH Gene

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