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Aliases for PTH2R Gene

Aliases for PTH2R Gene

  • Parathyroid Hormone 2 Receptor 2 3 5
  • Parathyroid Hormone Receptor 2 2 3
  • PTH2 Receptor 3 4
  • PTHR2 3 4

External Ids for PTH2R Gene

Previous HGNC Symbols for PTH2R Gene

  • PTHR2

Previous GeneCards Identifiers for PTH2R Gene

  • GC02P208980
  • GC02P209224
  • GC02P201118

Summaries for PTH2R Gene

Entrez Gene Summary for PTH2R Gene

  • The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for PTH2R Gene

PTH2R (Parathyroid Hormone 2 Receptor) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. GO annotations related to this gene include G-protein coupled receptor activity and parathyroid hormone receptor activity. An important paralog of this gene is PTH1R.

UniProtKB/Swiss-Prot for PTH2R Gene

  • This is a specific receptor for parathyroid hormone. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. PTH2R may be responsible for PTH effects in a number of physiological systems. It may play a significant role in pancreatic function. PTH2R presence in neurons indicates that it may function as a neurotransmitter receptor (By similarity).

Gene Wiki entry for PTH2R Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTH2R Gene

Genomics for PTH2R Gene

Regulatory Elements for PTH2R Gene

Enhancers for PTH2R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F208264 1.1 ENCODE 7.3 -93.2 -93158 3.7 HDGF ARNT MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 PIKFYVE PTH2R IDH1 MYL6BP1
GH02F208366 0.8 Ensembl ENCODE 9 +7.1 7087 0.8 PKNOX1 PBX2 IKZF1 TBX21 CREM SPI1 RFX5 PTH2R GC02M208365 LOC105373855
GH02F208251 1.1 ENCODE 5.8 -105.9 -105938 4.8 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF263 IDH1-AS1 ENSG00000223725 PIKFYVE PTH2R TPT1P2
GH02F208320 0.7 Ensembl ENCODE 7.7 -38.9 -38854 1.4 IKZF1 EED EBF1 IDH1-AS1 IDH1 PIKFYVE PTH2R PIR36576
GH02F208353 0.2 ENCODE 7.8 -6.5 -6483 0.2 PTH2R PIR36576
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTH2R on UCSC Golden Path with GeneCards custom track

Promoters for PTH2R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001831999 -13 600 POLR2A

Genomic Location for PTH2R Gene

Chromosome:
2
Start:
208,359,714 bp from pter
End:
208,854,503 bp from pter
Size:
494,790 bases
Orientation:
Plus strand

Genomic View for PTH2R Gene

Genes around PTH2R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTH2R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTH2R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTH2R Gene

Proteins for PTH2R Gene

  • Protein details for PTH2R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49190-PTH2R_HUMAN
    Recommended name:
    Parathyroid hormone 2 receptor
    Protein Accession:
    P49190
    Secondary Accessions:
    • Q8N429

    Protein attributes for PTH2R Gene

    Size:
    550 amino acids
    Molecular mass:
    62236 Da
    Quaternary structure:
    • Binds to TIPF39/TIP39.

neXtProt entry for PTH2R Gene

Post-translational modifications for PTH2R Gene

  • Glycosylation at Asn 51, Asn 106, Asn 116, and Asn 121
  • Modification sites at PhosphoSitePlus

Other Protein References for PTH2R Gene

No data available for DME Specific Peptides for PTH2R Gene

Domains & Families for PTH2R Gene

Gene Families for PTH2R Gene

Suggested Antigen Peptide Sequences for PTH2R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49190

UniProtKB/Swiss-Prot:

PTH2R_HUMAN :
  • Belongs to the G-protein coupled receptor 2 family.
Family:
  • Belongs to the G-protein coupled receptor 2 family.
genes like me logo Genes that share domains with PTH2R: view

Function for PTH2R Gene

Molecular function for PTH2R Gene

UniProtKB/Swiss-Prot Function:
This is a specific receptor for parathyroid hormone. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. PTH2R may be responsible for PTH effects in a number of physiological systems. It may play a significant role in pancreatic function. PTH2R presence in neurons indicates that it may function as a neurotransmitter receptor (By similarity).

Gene Ontology (GO) - Molecular Function for PTH2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004991 parathyroid hormone receptor activity TAS 7797535
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PTH2R: view
genes like me logo Genes that share phenotypes with PTH2R: view

Animal Models for PTH2R Gene

MGI Knock Outs for PTH2R:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTH2R

miRNA for PTH2R Gene

miRTarBase miRNAs that target PTH2R

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PTH2R

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTH2R Gene

Localization for PTH2R Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTH2R Gene

Cell membrane; Multi-pass membrane protein.

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 PTH2R gene
Compartment Confidence
plasma membrane 5
nucleus 1

Gene Ontology (GO) - Cellular Components for PTH2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7797535
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTH2R: view

Pathways & Interactions for PTH2R Gene

genes like me logo Genes that share pathways with PTH2R: view

Pathways by source for PTH2R Gene

SIGNOR curated interactions for PTH2R Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PTH2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with PTH2R: view

Drugs & Compounds for PTH2R Gene

(32) Drugs for PTH2R Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Parathyroid hormone Approved, Investigational Pharma Target, activator 0
Teriparatide Approved, Investigational Pharma binder 135
Parathyroid hormone (1-34) (human) Pharma Increases blood calcium level, Parathyroid hormone (PTH) receptor agonist 0
[<sup>125</sup>I][Nle<sup>8,21</sup>,Tyr<sup>34</sup>]PTH-(1-34)-NH<sub>2</sub> (rat) Pharma Full agonist, Agonist 0
[D-Trp<sup>12</sup>,Tyr<sup>34</sup>]PTH-(7-34) (bovine) Pharma Antagonist 0

(3) Additional Compounds for PTH2R Gene - From: IUPHAR and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PTH-(1-34) (human)
Full agonist, Agonist
PTHrP-(1-34)
Full agonist, Agonist
DPC AJ1951
943519-33-3

(2) Tocris Compounds for PTH2R Gene

Compound Action Cas Number
DPC AJ1951 Potent parathyroid hormone (PTH) receptor agonist 943519-33-3
Parathyroid hormone (1-34) (human) Parathyroid hormone (PTH) receptor agonist 52232-67-4

(2) ApexBio Compounds for PTH2R Gene

Compound Action Cas Number
Parathyroid hormone (1-34) (human) Increases blood calcium level 52232-67-4
Parathyroid Hormone (1-34), bovine Enhancer of blood calcium level 12583-68-5
genes like me logo Genes that share compounds with PTH2R: view

Transcripts for PTH2R Gene

mRNA/cDNA for PTH2R Gene

Unigene Clusters for PTH2R Gene

Parathyroid hormone 2 receptor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PTH2R

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTH2R Gene

No ASD Table

Relevant External Links for PTH2R Gene

GeneLoc Exon Structure for
PTH2R
ECgene alternative splicing isoforms for
PTH2R

Expression for PTH2R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTH2R Gene

mRNA differential expression in normal tissues according to GTEx for PTH2R Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.1), Kidney - Cortex (x8.9), Brain - Cortex (x6.7), and Brain - Amygdala (x4.7).

Protein differential expression in normal tissues from HIPED for PTH2R Gene

This gene is overexpressed in Heart (42.5) and Plasma (25.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PTH2R Gene



Protein tissue co-expression partners for PTH2R Gene

NURSA nuclear receptor signaling pathways regulating expression of PTH2R Gene:

PTH2R

SOURCE GeneReport for Unigene cluster for PTH2R Gene:

Hs.570296

mRNA Expression by UniProt/SwissProt for PTH2R Gene:

P49190-PTH2R_HUMAN
Tissue specificity: Expressed abundantly in brain and pancreas. Also expressed in the testis.
genes like me logo Genes that share expression patterns with PTH2R: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PTH2R Gene

Orthologs for PTH2R Gene

This gene was present in the common ancestor of animals.

Orthologs for PTH2R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTH2R 34 35
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia PTH2R 34 35
  • 88.55 (n)
dog
(Canis familiaris)
Mammalia PTH2R 34 35
  • 86.1 (n)
mouse
(Mus musculus)
Mammalia Pth2r 34 16 35
  • 84.31 (n)
rat
(Rattus norvegicus)
Mammalia Pth2r 34
  • 83.52 (n)
oppossum
(Monodelphis domestica)
Mammalia PTH2R 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTH2R 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTH3R 35
  • 48 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PTH2R 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pth2r 34
  • 71 (n)
zebrafish
(Danio rerio)
Actinopterygii pth2r 34 35
  • 65.62 (n)
PTH2R (2 of 2) 35
  • 62 (a)
OneToMany
pthr2 34
fruit fly
(Drosophila melanogaster)
Insecta Dh44-R1 35
  • 26 (a)
ManyToMany
Dh44-R2 35
  • 25 (a)
ManyToMany
Species where no ortholog for PTH2R was found in the sources mined by GeneCards:
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PTH2R Gene

ENSEMBL:
Gene Tree for PTH2R (if available)
TreeFam:
Gene Tree for PTH2R (if available)

Paralogs for PTH2R Gene

(11) SIMAP similar genes for PTH2R Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PTH2R: view

Variants for PTH2R Gene

Sequence variations from dbSNP and Humsavar for PTH2R Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1001569 -- 208,445,462(-) GTACT(A/G)CTAAA intron-variant
rs10165447 -- 208,483,417(+) TTTAG(A/T)TCTGA intron-variant
rs10165453 -- 208,397,325(+) GCCAA(A/G)AGCAC intron-variant
rs10166366 -- 208,422,495(+) ATATT(C/T)GTTAA intron-variant
rs10166432 -- 208,450,296(+) GCCTC(A/C)GTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTH2R Gene

Variant ID Type Subtype PubMed ID
nsv584297 CNV gain 21841781
nsv523966 CNV loss 19592680
nsv438381 CNV loss 16468122
nsv437315 CNV loss 16327808
nsv3138 CNV insertion 18451855
nsv10216 CNV loss 18304495
nsv1004537 CNV loss 25217958
esv3594114 CNV loss 21293372
esv28670 CNV loss 19812545
esv2666372 CNV deletion 23128226
esv2657801 CNV deletion 23128226
esv2421431 CNV deletion 20811451
dgv88e203 CNV loss 21179565
dgv4160n100 CNV loss 25217958

Variation tolerance for PTH2R Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTH2R Gene

Human Gene Mutation Database (HGMD)
PTH2R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTH2R

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTH2R Gene

Disorders for PTH2R Gene

Relevant External Links for PTH2R

Genetic Association Database (GAD)
PTH2R
Human Genome Epidemiology (HuGE) Navigator
PTH2R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTH2R

No disorders were found for PTH2R Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PTH2R Gene

Publications for PTH2R Gene

  1. Genetic variation in the PTH pathway and bone phenotypes in elderly women: evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes. (PMID: 18280230) Tenne M. … Akesson K. (Bone 2008) 3 22 46 64
  2. Identification and characterization of the murine and human gene encoding the tuberoinfundibular peptide of 39 residues. (PMID: 11861531) John M.R. … Jueppner H. (Endocrinology 2002) 3 4 22 64
  3. Assignment of the human PTH2 receptor gene (PTHR2) to chromosome 2q33 by fluorescence in situ hybridization. (PMID: 8921382) Usdin T.B. … Bonner T.I. (Genomics 1996) 3 4 22 64
  4. Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor. (PMID: 7797535) Usdin T.B. … Bonner T.I. (J. Biol. Chem. 1995) 3 4 22 64
  5. 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) BagA^ A.G. … Dobolyi A. (Neuroscience 2009) 3 22 64

Products for PTH2R Gene

Sources for PTH2R Gene

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