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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTH Gene

protein-coding   GIFtS: 66
GCID: GC11M013470

Parathyroid Hormone

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Parathyroid Hormone1 2     Preproparathyroid Hormone1 2
parathormone1 2     PTH12
parathyrin1 2     Parathormone3
Parathyroid Hormone 11 2     Parathyrin3
prepro-PTH1 2     

External Ids:    HGNC: 96061   Entrez Gene: 57412   Ensembl: ENSG000001522667   OMIM: 1684505   UniProtKB: P012703   

Export aliases for PTH gene to outside databases

Previous GC identifers: GC11M014784 GC11M014262 GC11M013552 GC11M013477 GC11M013193


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 renal osteodystrophy, and uremic neuropathy, and among its related super-pathways are Signaling by GPCR and Glucagon-type ligand receptors. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and peptide hormone receptor binding.

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270
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 Wiki entry for PTH (Parathyroid hormone) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTH gene promoter:
         TBP   AP-1   Pax-6   ATF-2   Tal-1beta   C/EBPalpha   E47   TFIID   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTH promoter sequence
   Search SABiosciences Chromatin IP Primers for PTH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.3-p15.1   Ensembl cytogenetic band:  11p15.2   HGNC cytogenetic band: 11p15.3-p15.1

PTH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTH gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M013470:  view genomic region     (about GC identifiers)

Start:
13,513,601 bp from pter      End:
13,517,728 bp from pter
Size:
4,128 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270 (See protein sequence)
Recommended Name: Parathyroid hormone precursor  
Size: 115 amino acids; 12861 Da
Subunit: Interacts with PTH1R (via N-terminal extracellular domain)
Subcellular location: Secreted
6/15 PDB 3D structures from and Proteopedia for PTH (see all 15):
1BWX (3D)        1ET1 (3D)        1ET2 (3D)        1FVY (3D)        1HPH (3D)        1HPY (3D)    
Secondary accessions: Q4VB48 Q9UD38

Explore the universe of human proteins at neXtProt for PTH: NX_P01270

Explore proteomics data for PTH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01270

  • PTH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTH Protein Expression
    REFSEQ proteins: NP_000306.1  
    ENSEMBL proteins: 
     ENSP00000282091   ENSP00000433208  
    Reactome Protein details: P01270
    Human Recombinant Protein Products for PTH: 
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    Novus Biologicals PTH Proteins
    Novus Biologicals PTH Lysates
    Sino Biological Recombinant Protein for PTH
    Sino Biological Cell Lysate for PTH 
    ProSpec Recombinant Protein for PTH
    Cloud-Clone Corp. Proteins for PTH 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--

    PTH for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for PTH 
    Cloud-Clone Corp. CLIAs for PTH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ENDOLIG: Endogenous ligands

    2 InterPro protein domains:
     IPR003625 PTH
     IPR001415 PTH/PTH-rel

    Graphical View of Domain Structure for InterPro Entry P01270

    ProtoNet protein and cluster: P01270

    1 Blocks protein domain: IPB001415 Parathyroid hormone

    UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270
    Similarity: Belongs to the parathyroid hormone family


    PTH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTHY_HUMAN, P01270
    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

         Genatlas biochemistry entry for PTH:
    parathyroid hormone,9.5kDa,formed from a 12.5kDa precursor

         Summary:
    During embryonic development, PTH as signaling molecule is secreted from the following cells: Chief Cells of Parathyroid in Parathyroid It affects the following cells: Endochondral Osteoblasts in Endochondral Facial Bones, Endochondral Osteoblasts in Rostral Endochondral Facial Bones (see all 22).

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IMP17696759
    GO:0005179hormone activity IEA--
    GO:0031856parathyroid hormone receptor binding IEA--
    GO:0051428peptide hormone receptor binding IDA19674967
         
    PTH for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pth):
     cardiovascular system  craniofacial  endocrine/exocrine gland  growth/size  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  skeleton 

    PTH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pthtm1Dgo for PTH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PTH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTH 
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    hsa-miR-15a hsa-miR-503 hsa-miR-497 hsa-miR-646 hsa-miR-103a hsa-miR-424 hsa-miR-186 hsa-miR-195
    SwitchGear 3'UTR luciferase reporter plasmidPTH 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTH About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    2Prostacyclin signalling through prostacyclin receptor
    Class B/2 (Secretin family receptors)0.36
    G alpha (s) signalling events0.31
    3Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    4Transcription Role of VDR in regulation of genes involved in osteoporosis
    Transcription Role of VDR in regulation of genes involved in osteoporosis0.80
    5Class A/1 (Rhodopsin-like receptors)
    GPCR ligand binding0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PTH
        Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Transcription Role of VDR in regulation of genes involved in osteoporosis


    2 GeneGo (Thomson Reuters) Pathways for PTH
        Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Transcription Role of VDR in regulation of genes involved in osteoporosis

    3 BioSystems Pathways for PTH
        Vitamin D synthesis
    Endochondral Ossification
    Osteoblast Signaling


    5/6        Reactome Pathways for PTH (see all 6)
        GPCR downstream signaling
    Signal Transduction
    Signaling by GPCR
    GPCR ligand binding
    Class B/2 (Secretin family receptors)



    PTH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/73 Interacting proteins for PTH (P012702, 3 ENSP000002820914) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAG6P463792, 3MINT-63346 I2D: score=5 
    ENSG00000096155P463792, 3MINT-63346 I2D: score=5 
    ENSG00000227761P463792, 3MINT-63346 I2D: score=5 
    ENSG00000228760P463792, 3MINT-63346 I2D: score=5 
    ENSG00000229524P463792, 3MINT-63346 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA17696759
    GO:0001501skeletal system development TAS10913913
    GO:0006874cellular calcium ion homeostasis NAS--
    GO:0007186G-protein coupled receptor signaling pathway TAS7797535
    GO:0007189adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA--

    PTH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PTH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PTH (PTHY)

    1 HMDB Compound for PTH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for PTH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Norleucine-- --target----

    10/51 Novoseek inferred chemical compound relationships for PTH gene (see all 51)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    25-hydroxyvitamin d 76.4 26 9435366 (2), 10672132 (1), 11388078 (1), 16807549 (1) (see all 22)
    vitamin d 74.5 56 8891962 (4), 17854393 (3), 11705321 (3), 17368185 (3) (see all 36)
    calcitriol 72.5 31 10988200 (3), 12213894 (3), 10720039 (2), 9730564 (1) (see all 23)
    calcium 71.4 337 9768650 (7), 7705374 (5), 1291861 (5), 20032048 (5) (see all 99)
    deoxypyridinoline 66.3 15 18004084 (2), 14555415 (1), 19158198 (1), 18999899 (1) (see all 11)
    1,25 dihydroxy vitamin d3 65.7 10 9626120 (2), 10077002 (1), 12788900 (1), 17293108 (1) (see all 9)
    doxercalciferol 55 3 16282676 (3)
    phosphorus 54.7 46 8647946 (8), 15486872 (3), 19463763 (3), 16160737 (2) (see all 17)
    procollagen 50.5 13 16352693 (2), 12788900 (1), 12381951 (1), 15049968 (1) (see all 7)
    forskolin 48.4 16 12209875 (4), 2175562 (1), 18450967 (1), 9572838 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about PTH / PTHY

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTH gene: 
    NM_000315.2  

    Unigene Cluster for PTH:

    Parathyroid hormone
    Hs.37045  [show with all ESTs]
    Unigene Representative Sequence: NM_000315
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000282091(uc001mlb.3) ENST00000529816
    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate PTH (see all 11):
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    Inhib. RNA
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    Additional mRNA sequence: 

    BC096142.1 BC096143.1 BC096144.3 BC096145.1 V00597.1 

    1 DOTS entry:

    DT.318355 

    24/100 AceView cDNA sequences (see all 100):

    AI050896 N90261 BX106232 W56886 AA888818 AI457923 W37306 N89821 
    W37708 W39202 AI092021 NM_000315 AA037414 AI050910 BX103059 AA889450 
    AI051997 AA843660 V00597 N92513 W56120 AI028087 AA846633 AA855144 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PTH expression in normal human tissues (normalized intensities)      PTH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTAATTC
    PTH Expression
    About this image


    PTH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Thyroid (Endocrine System)    fully expand to see all 2 entries
             parathyroid gland ; glandular cells   
             parathyroid gland   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

    See PTH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTH

    SOURCE GeneReport for Unigene cluster: Hs.37045
        SABiosciences Expression via Pathway-Focused PCR Array including PTH: 
              Apoptosis 384HT in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PTH gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pth1 , 5 parathyroid hormone1, 5 78.55(n)1
    67.83(a)1
      7 (59.19 cM)5
    192261  NM_020623.21  NP_065648.11 
     1133855765 
    chicken
    (Gallus gallus)
    Aves PTH1 parathyroid hormone 66.67(n)
    55.24(a)
      396436  NM_205452.2  NP_990783.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/134 SNPs in PTH are shown (see all 134)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0060474
    Familial isolated hypoparathyroidism (FIH)4--see VAR_0060472 C R mis40--------
    VAR_0184644
    Familial isolated hypoparathyroidism (FIH)4--see VAR_0184642 S P mis40--------
    rs62561,2
    C,F,A,Hpathogenic113438416(-) GGCCCA/C/TGAAAA 2 R * stg1 ese323MN NA NS EA WA EU 7824
    rs1048942721,2
    Cpathogenic113438699(-) CAAAAC/TCGGAT 2 P S mis10--------
    rs1048942711,2
    Cpathogenic113438714(-) CAATTC/TGTTTT 2 R C mis10--------
    rs783366271,2
    C,F--13437498(+) TAGGCC/TGCATG 1 -- ds50011Minor allele frequency- T:0.03NA 120
    rs583151981,2
    C,F--13437503(+) CGCATG/ATAGAC 1 -- ds50012Minor allele frequency- A:0.19WA 120
    rs583991361,2
    C,F--13437562(+) GTACAC/TGACAA 1 -- ds50012Minor allele frequency- T:0.19WA 120
    rs728585191,2
    C,F--13437567(+) CGACAA/GACAAT 1 -- ds50012Minor allele frequency- G:0.23NA EA 240
    rs747037171,2
    C,F--13437596(+) TGTCAA/GATGAC 1 -- ds50011Minor allele frequency- G:0.05EA 120

    HapMap Linkage Disequilibrium report for PTH (13513601 - 13517728 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PTH: --

    Human Gene Mutation Database (HGMD): PTH
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PTH
    DNA2.0 Custom Variant and Variant Library Synthesis for PTH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 168450   
    OMIM disorders: 146200  
    UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270
  • Familial isolated hypoparathyroidism (FIH) [MIM:146200]: Characterized by hypocalcemia and
    hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps.
    An autosomal recessive form of FIH also exists. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/112 diseases for PTH (see all 112):    About MalaCards
    renal osteodystrophy    uremic neuropathy    parathyroid disorders    hypoparathyroidism, autosomal recessive
    pth-related familial isolated hypoparathyroidism    hypoparathyroidism    parathyroid carcinoma    hypervitaminosis d
    clear cell adenoma    hypoparathyroidism familial isolated    hypoparathyroidism, autosomal dominant    osteitis fibrosa
    parathyroid adenoma    ossification of the posterior longitudinal ligament of the spine    vitamin d-dependent rickets type ii    albright's hereditary osteodystrophy
    idiopathic juvenile osteoporosis    primary hyperparathyroidism    uremia    jansen's metaphyseal chondrodysplasia

    20/30 diseases from the University of Copenhagen DISEASES database for PTH (see all 30):
    Hyperparathyroidism     Hypercalcemia     Parathyroid adenoma     Osteoporosis
    Hypoparathyroidism     Kidney failure     Hyperphosphatemia     Pseudohypoparathyroidism
    Renal osteodystrophy     Osteomalacia     Osteitis fibrosa     Hypophosphatemia
    Parathyroid carcinoma     Adenoma     Calcinosis     Rickets
    Nephrolithiasis     X-linked hypophosphatemia     Metabolic acidosis     Hypertension

    PTH for disorders           About GeneDecksing

    10/53 Novoseek inferred disease relationships for PTH gene (see all 53)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperparathyroidism secondary 81.4 23 17854393 (2), 12940896 (2), 12753275 (2), 15332221 (2) (see all 13)
    hypercalcemia 80.8 58 1849762 (4), 16077176 (4), 1993319 (3), 10660809 (3) (see all 35)
    hyperparathyroidism primary 80.5 31 16491288 (3), 1689222 (2), 8369362 (2), 10468923 (2) (see all 20)
    parathyroid adenoma 79.5 17 2199477 (2), 10704427 (2), 8626826 (1), 15775480 (1) (see all 11)
    hyperparathyroidism 74.5 16 16263810 (1), 9730564 (1), 1643722 (1), 7903311 (1) (see all 13)
    hypoparathyroidism 69.6 14 9768650 (3), 1993319 (2), 7752497 (1), 17721071 (1) (see all 7)
    pseudohypoparathyroidism, type ib 69.6 1 10971097 (1)
    hyperphosphatemia 69 6 17178702 (2), 10620210 (1), 12940896 (1), 12753275 (1) (see all 5)
    renal osteodystrophy 69 3 10077343 (2), 8258962 (1)
    bone diseases 61.8 8 8671970 (4), 10620210 (1), 18587716 (1), 11277262 (1) (see all 5)

    Genatlas disease: PTH
    hypoparathyroidism,familial,isolated,dominant and recessive types

    Genetic Association Database (GAD): PTH
    Human Genome Epidemiology (HuGE) Navigator: PTH (112 documents)
    Tumor Gene Database (TGDB): PTH

    Export disorders for PTH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PTH gene, integrated from 9 sources (see all 558):
    (articles sorted by number of sources associating them with PTH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. [Polymorphism of parathyroid hormone gene and its association with bone mineral density of Han nationality women in Beijing area] (PubMed id 12905817)1, 4, 9 Li M....Xing X.P. (2001)
    2. Associations of vitamin D receptor, calcium-sensing r eceptor and parathyroid hormone gene polymorphisms with calcium homeostasis and peripheral bone density in adult Finns. (PubMed id 19690432)1, 4, 9 Laaksonen M.M....Lamberg-Allardt C.J. (2009)
    3. Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies. (PubMed id 1672845)1, 3, 9 Tonoki H....Niikawa N. (1991)
    4. Variation in the PTH gene, hip fracture, and femoral neck geometry in elderly women. (PubMed id 20349051)1, 4 Tenne M....Akesson K. (2010)
    5. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. (PubMed id 19874204)1, 4 Guo Y....Deng H.W. (2010)
    8. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)
    9. Parathyroid hormone gene variant and calcific aortic stenosis. (PubMed id 19557980)1, 4 Schmitz F....Ortlepp J.R. (2009)
    10. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5741 HGNC: 9606 AceView: PTH Ensembl:ENSG00000152266 euGenes: HUgn5741
    ECgene: PTH H-InvDB: PTH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTH Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Parathyroid_hormone

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PTH gene:
    Search GeneIP for patents involving PTH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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