This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the release of pituitary hormones, anxiety and nociception. The encoded precursor protein is proteolytically processed to generate the biologically active neuropeptide. [provided by Ref... See more...

Aliases for PTH2 Gene

Aliases for PTH2 Gene

  • Parathyroid Hormone 2 2 3 4 5
  • TIP39 2 3 4
  • Tuberoinfundibular Peptide Of 39 Residues 3 4
  • Tuberoinfundibular 39 Residue Protein 3
  • Tuberoinfundibular 39 Residues 2
  • TIPF39 4
  • PTH2 5

External Ids for PTH2 Gene

Previous GeneCards Identifiers for PTH2 Gene

  • GC19M054618
  • GC19M049925
  • GC19M046302

Summaries for PTH2 Gene

Entrez Gene Summary for PTH2 Gene

  • This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the release of pituitary hormones, anxiety and nociception. The encoded precursor protein is proteolytically processed to generate the biologically active neuropeptide. [provided by RefSeq, Jul 2015]

GeneCards Summary for PTH2 Gene

PTH2 (Parathyroid Hormone 2) is a Protein Coding gene. Diseases associated with PTH2 include Polyomavirus-Associated Nephropathy. Among its related pathways are Signaling by GPCR and G alpha (s) signalling events.

UniProtKB/Swiss-Prot Summary for PTH2 Gene

  • 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 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTH2 Gene

Genomics for PTH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J049425 Promoter 0.9 EPDnew 600.7 -0.2 -245 0.1 ARHGAP35 ZNF512 IKZF1 MTA2 PKNOX1 MTA1 EZH2 DPF2 ZNF184 ZBTB2 GFY PTH2 lnc-SLC17A7-3 POLD1 NUP62 MED25
GH19J049422 Enhancer 0.9 ENCODE 600.7 +0.5 542 0.2 RNF2 ARHGAP35 PRDM10 KDM1A PKNOX1 MTA1 CTCF ZNF24 EZH2 DPF2 GFY PTH2 lnc-SLC17A7-3 BCL2L12 PTOV1 SCAF1 HSALNG0126988 KASH5
GH19J049428 Enhancer 0.9 ENCODE 600.7 +0.9 862 0.2 CTCF PRDM10 KDM1A PKNOX1 MTA1 PATZ1 REST ZNF24 EZH2 DPF2 GFY PTH2 lnc-SLC17A7-3 HSALNG0126988 KASH5
GH19J049423 Enhancer 0.8 ENCODE 600.7 +0.4 406 0 RNF2 ARHGAP35 ZNF24 EZH2 DPF2 MGA YBX3 ZNF184 MTA3 ZNF248 GFY PTH2 lnc-SLC17A7-3 BCL2L12 PTOV1 SCAF1 HSALNG0126988 KASH5
GH19J049424 Enhancer 0.7 ENCODE 600.7 -0.6 -648 0.1 ZNF512 IKZF1 MTA2 MTA1 BRD9 DPF2 ZNF600 ZNF184 RUNX3 FOXK2 GFY PTH2 lnc-SLC17A7-3 POLD1 ALDH16A1 SNORD35A SNORD35B IRF3 BCL2L12 NUP62
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTH2

Top Transcription factor binding sites by QIAGEN in the PTH2 gene promoter:
  • AREB6
  • c-Myb
  • c-Myc
  • GATA-2
  • ITF-2
  • Max1
  • Tal-1beta
  • TBP
  • USF-1
  • USF1

Genomic Locations for PTH2 Gene

Genomic Locations for PTH2 Gene
chr19:49,422,419-49,423,441
(GRCh38/hg38)
Size:
1,023 bases
Orientation:
Minus strand
chr19:49,925,671-49,926,698
(GRCh37/hg19)
Size:
1,028 bases
Orientation:
Minus strand

Genomic View for PTH2 Gene

Genes around PTH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTH2 Gene

Proteins for PTH2 Gene

  • Protein details for PTH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A98-TIP39_HUMAN
    Recommended name:
    Tuberoinfundibular peptide of 39 residues
    Protein Accession:
    Q96A98
    Secondary Accessions:
    • Q96DJ4

    Protein attributes for PTH2 Gene

    Size:
    100 amino acids
    Molecular mass:
    11202 Da
    Quaternary structure:
    • Ligand of high affinity for the PTH2 receptor (PTH2R).

neXtProt entry for PTH2 Gene

Post-translational modifications for PTH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTH2 Gene

Domains & Families for PTH2 Gene

Gene Families for PTH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PTH2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PTH2 Gene

GenScript: Design optimal peptide antigens:
  • Parathyroid hormone 2 (TIP39_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96A98

UniProtKB/Swiss-Prot:

TIP39_HUMAN :
  • Belongs to the parathyroid hormone family.
Family:
  • Belongs to the parathyroid hormone family.
genes like me logo Genes that share domains with PTH2: view

Function for PTH2 Gene

Molecular function for PTH2 Gene

UniProtKB/Swiss-Prot 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 From GWAS Catalog for PTH2 Gene

genes like me logo Genes that share phenotypes with PTH2: view

Animal Models for PTH2 Gene

MGI Knock Outs for PTH2:
  • Pth2 Pth2<tm1Vlcg>

Animal Model Products

CRISPR Products

miRNA for PTH2 Gene

miRTarBase miRNAs that target PTH2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTH2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTH2 Gene

Localization for PTH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTH2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTH2 gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PTH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with PTH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PTH2 Gene

Pathways & Interactions for PTH2 Gene

genes like me logo Genes that share pathways with PTH2: view

SIGNOR curated interactions for PTH2 Gene

Activates:

Gene Ontology (GO) - Biological Process for PTH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007218 neuropeptide signaling pathway IEA --
genes like me logo Genes that share ontologies with PTH2: view

Drugs & Compounds for PTH2 Gene

(2) Drugs for PTH2 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Parathyroid Hormone (1-34), bovine Pharma Enhancer of blood calcium level 0
Calcium Nutra 6556

(1) ApexBio Compounds for PTH2 Gene

Compound Action Cas Number
Parathyroid Hormone (1-34), bovine Enhancer of blood calcium level 12583-68-5
genes like me logo Genes that share compounds with PTH2: view

Drug Products

Transcripts for PTH2 Gene

mRNA/cDNA for PTH2 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTH2

Alternative Splicing Database (ASD) splice patterns (SP) for PTH2 Gene

No ASD Table

Relevant External Links for PTH2 Gene

GeneLoc Exon Structure for
PTH2

Expression for PTH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTH2 Gene

mRNA differential expression in normal tissues according to GTEx for PTH2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x19.2), Brain - Cerebellum (x17.4), and Testis (x6.6).

Protein differential expression in normal tissues from HIPED for PTH2 Gene

This gene is overexpressed in Adipocyte (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PTH2 Gene



Protein tissue co-expression partners for PTH2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTH2

SOURCE GeneReport for Unigene cluster for PTH2 Gene:

Hs.339845

mRNA Expression by UniProt/SwissProt for PTH2 Gene:

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

Evidence on tissue expression from TISSUES for PTH2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PTH2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTH2 Gene

Orthologs for PTH2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PTH2 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia PTH2 30 31
  • 90.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTH2 30 31
  • 87.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pth2 30 17 31
  • 80 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pth2 30
  • 79.33 (n)
Species where no ortholog for PTH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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 PTH2 Gene

ENSEMBL:
Gene Tree for PTH2 (if available)
TreeFam:
Gene Tree for PTH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTH2: view image

Paralogs for PTH2 Gene

No data available for Paralogs for PTH2 Gene

Variants for PTH2 Gene

Additional dbSNP identifiers (rs#s) for PTH2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PTH2 Gene

Variant ID Type Subtype PubMed ID
dgv52n68 CNV loss 17160897
nsv953599 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for PTH2 Gene

Residual Variation Intolerance Score: 77.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTH2 Gene

Disorders for PTH2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PTH2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
polyomavirus-associated nephropathy
  • polyomavirus associated nephropathy
- elite association - COSMIC cancer census association via MalaCards
Search PTH2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PTH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTH2 Gene

Publications for PTH2 Gene

  1. Identification and characterization of the murine and human gene encoding the tuberoinfundibular peptide of 39 residues. (PMID: 11861531) John MR … Jüppner H (Endocrinology 2002) 2 3 4 23
  2. PTH2 receptor-mediated inhibitory effect of parathyroid hormone and TIP39 on cell proliferation. (PMID: 12754053) Misiano P … Garnier M (European journal of pharmacology 2003) 3 4 23
  3. 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. (PMID: 19401215) Bagó AG … Dobolyi A (Neuroscience 2009) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. 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. (PMID: 14988434) Bisello A … Ferrari SL (Molecular endocrinology (Baltimore, Md.) 2004) 3 4

Products for PTH2 Gene

Sources for PTH2 Gene