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PTH2 Gene

protein-coding   GIFtS: 48
GCID: GC19M049925

Parathyroid Hormone 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Parathyroid Hormone 21 2 3
TIP392 3 5
Tuberoinfundibular 39 Residues1 2
Tuberoinfundibular 39 Residue Protein2
Tuberoinfundibular Peptide Of 39 Residues2
TIPF393

External Ids:    HGNC: 308281   Entrez Gene: 1130912   Ensembl: ENSG000001425387   OMIM: 6083865   UniProtKB: Q96A983   

Export aliases for PTH2 gene to outside databases

Previous GC identifers: GC19M054618 GC19M046302


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PTH2 Gene:
TIP39 is related to parathyroid hormone (PTH; MIM 168450) and PTH-related protein (PTHRP; MIM 168470) and is a
ligand for PTH receptor-2 (PTHR2; MIM 601469) (John et al., 2002 (PubMed 11861531)).(supplied by OMIM, Mar 2008)

GeneCards Summary for PTH2 Gene:
PTH2 (parathyroid hormone 2) is a protein-coding gene.

UniProtKB/Swiss-Prot: TIP39_HUMAN, Q96A98
Function: Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and
intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin
and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which
may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits

Gene Wiki entry for PTH2 (TIP39) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTH2 gene promoter:
         TBP   Max1   USF1   Tal-1beta   GATA-2   AREB6   USF-1   c-Myb   ITF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTH2 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PTH2


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

PTH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTH2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049925:  view genomic region     (about GC identifiers)

Start:
49,925,671 bp from pter      End:
49,926,698 bp from pter
Size:
1,028 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TIP39_HUMAN, Q96A98 (See protein sequence)
Recommended Name: Tuberoinfundibular peptide of 39 residues precursor  
Size: 100 amino acids; 11202 Da
Subunit: Ligand of high affinity for the PTH2 receptor (PTH2R)
Secondary accessions: Q96DJ4

Explore the universe of human proteins at neXtProt for PTH2: NX_Q96A98

Explore proteomics data for PTH2 at MOPED


See PTH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_848544.1  
ENSEMBL proteins: 
 ENSP00000270631  
Reactome Protein details: Q96A98

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

ProtoNet protein and cluster: Q96A98

UniProtKB/Swiss-Prot: TIP39_HUMAN, Q96A98
Similarity: Belongs to the parathyroid hormone family


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: TIP39_HUMAN, Q96A98
Function: Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and
intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin
and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which
may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits

Phenotypes:
     1 GenomeRNAi human phenotype for PTH2:

 Decreased viability with pacli 

     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pth2):
 endocrine/exocrine gland  reproductive system 

Find genes that share phenotypes with PTH2           About GenesLikeMe

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
TIP39_HUMAN, Q96A98: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
nucleus2

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS--

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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for PTH2 About    
See pathways by source

SuperPathContained pathways About
1Signaling by GPCR
Signaling by GPCR0.90
Signal Transduction0.58
GPCR downstream signaling0.90
2Peptide ligand-binding receptors
GPCR ligand binding0.71
3ADP signalling through P2Y purinoceptor 12
Class B/2 (Secretin family receptors)0.36
4G alpha (s) signalling events
G alpha (s) signalling events


Find genes that share SuperPaths with PTH2           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Reactome Pathways for PTH2
    G alpha (s) signalling events
Class B/2 (Secretin family receptors)


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Interactions:

    GeneGlobe Interaction Network for PTH2

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for PTH2 (Q96A983 ENSP000002706314) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
PTH2RP491903, ENSP000002728474I2D: score=1 STRING: ENSP00000272847
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007218neuropeptide signaling pathway IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for PTH2 (TIP39)

1 HMDB Compound for PTH2    About this table
CompoundSynonyms CAS #PubMed Ids
CalciumCa (see all 2)7440-70-2--



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for PTH2 gene: 
NM_178449.3  

Unigene Cluster for PTH2:

Parathyroid hormone 2
Hs.339845
Unigene Representative Sequence: NM_178449
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000270631(uc002pnn.1)
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Additional mRNA sequence: 

AY037555.1 AY048588.1 BC093995.1 BC093997.1 

1 DOTS entry:

DT.95360704 

3 AceView cDNA sequences:

AY048588 AY037555 NM_178449 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PTH2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCCTGCGCTC
PTH2 Expression
About this image

PTH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PTH2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.339845

UniProtKB/Swiss-Prot: TIP39_HUMAN, Q96A98
Tissue specificity: Highly expressed in fetal and adult brain, cerebellum and trachea. Weakly expressed in spinal
cord, fetal liver, kidney and heart

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(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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for PTH2 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pth21 , 5 parathyroid hormone 21, 5 80(n)1
79(a)1
  7 (29.17 cM)5
1146401  NM_053256.21  NP_444486.11 
 451809955 


ENSEMBL Gene Tree for PTH2 (if available)
TreeFam Gene Tree for PTH2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PTH2 (see all 52)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs116696751,2
C,F,A,H--49925208(+) GAGGCA/CGAAGG 1 -- ds500119Minor allele frequency- C:0.43NS EA NA WA 2342
rs1845596011,2
--49925533(+) ACGGAA/GTTGAG 1 -- ds50010--------
rs1378916171,2
C--49925609(+) TTCTA-/CCCCCC 1 -- ds50010--------
rs1870326571,2
--49925647(+) ACGCAC/TACGCA 1 -- ds50010--------
rs129746291,2
C,F,A,H--49925667(+) GGAACG/TAGGCG 1 -- ds500122Minor allele frequency- T:0.24NS EA NA WA CSA 2341
rs1381354821,2
C,F--49925728(+) GCTCAG/CGGCGC 2 /P syn12Minor allele frequency- C:0.00NA EU 5221
rs1929526111,2
C--49925853(+) CCGCGA/G/TCCTGG 3 T P S mis10--------
rs1399269471,2
C--49926049(+) GTCTCC/TGTCTC 1 -- int10--------
rs1420124611,2
C--49926112(+) TTGTCC/TGCCCA 1 -- int10--------
rs1848829301,2
C--49926250(+) TCTTTC/TCCTTG 1 -- int10--------

HapMap Linkage Disequilibrium report for PTH2 (49925671 - 49926698 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for PTH2:    About this table    
Variant IDTypeSubtypePubMed ID
dgv52n68CNV Loss17160897
nsv912262CNV Loss21882294
nsv912261CNV Loss21882294
nsv912263CNV Loss21882294
nsv9739CNV Gain+Loss18304495

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608386    OMIM disorders: --


Find genes that share disorders with PTH2           About GenesLikeMe


Export disorders for PTH2 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)
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PubMed articles for PTH2 gene, integrated from 10 sources (see all 17):
(articles sorted by number of sources associating them with PTH2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification and characterization of the murine and human gene encoding the tuberoinfundibular peptide of 39 residues. (PubMed id 11861531)1, 2, 3, 9 John M.R.... Jueppner H. (Endocrinology 2002)
  2. PTH2 receptor-mediated inhibitory effect of parathyroid hormone and TIP39 on cell proliferation. (PubMed id 12754053)1, 2, 9 Misiano P.... Garnier M. (Eur. J. Pharmacol. 2003)
  3. Agonist-specific regulation of parathyroid hormone (PTH) receptor type 2 activity: structural and functional analysis of PTH- and tuberoinfundibular peptide (TIP) 39-stimulated desensitization and internalization. (PubMed id 14988434)1, 2 Bisello A....Ferrari S.L. (Mol. Endocrinol. 2004)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Tuberoinfundibular peptide of 39 residues (TIP39): molecular structure and activity for parathyroid hormone 2 receptor. (PubMed id 12559132)1, 2 Della Penna K.... Wang H. (Neuropharmacology 2003)
  6. Anatomical and physiological evidence for involvement of tuberoinfundibular peptide of 39 residues in nociception. (PubMed id 11818570)1, 2 Dobolyi A.... Usdin T.B. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. Characterization of the human and mouse genes encoding the tuberoinfundibular peptide of 39 residues, a ligand of the parathyroid hormone receptor family. (PubMed id 12098667)1, 2 Hansen I.A....Blind E. (J. Endocrinol. 2002)
  8. Parathyroid hormone 2 receptor and its endogenous ligand tuberoinfundibular peptide of 39 residues are concentrated in endocrine, viscerosensory and auditory brain regions in macaque and human. (PubMed id 19401215)1, 9 BagA^ A.G....Dobolyi A. (Neuroscience 2009)
  9. Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors. (PubMed id 18240029)1 Luttrell L.M. (Mol. Biotechnol. 2008)
  10. Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus. (PubMed id 12036966)1 Feldman D.S....Luttrell L.M. (J. Biol. Chem. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (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)
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Entrez Gene: 113091 HGNC: 30828 AceView: TIP39 Ensembl:ENSG00000142538 euGenes: HUgn113091
ECgene: PTH2 H-InvDB: PTH2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for PTH2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for PTH2 gene:
Search GeneIP for patents involving PTH2

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Novus Tissue Slides
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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