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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 Peptide ligand-binding receptors and Presynaptic function of Kainate receptors. Gene Ontology (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

Additional gene information for PTH2R Gene

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

Genomics for PTH2R Gene

GeneHancer (GH) Regulatory Elements for PTH2R Gene

Promoters and enhancers for PTH2R 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
GH02I208406 Promoter/Enhancer 1 EPDnew Ensembl 550.2 +47.2 47199 1 L3MBTL2 NRF1 MGA EZH2 LOC105373855 PTH2R ENSG00000227430
GH02I208264 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 7.3 -93.2 -93157 3.7 HDGF SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 PIKFYVE IDH1 PTH2R MYL6BP1 GC02P208116
GH02I208251 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.8 -105.9 -105937 4.8 HDGF PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IDH1-AS1 IDH1 CREB1 PIKFYVE PTH2R TPT1P2 GC02P208116
GH02I208366 Enhancer 0.7 Ensembl ENCODE 9 +7.1 7087 0.8 MEIS2 SRF PKNOX1 IKZF1 ATF7 SPI1 GC02M208365 PTH2R LOC105373855
GH02I208320 Enhancer 0.7 ENCODE dbSUPER 7.7 -38.9 -38853 1.4 IKZF1 EBF1 IKZF2 RUNX3 NR2F2 IDH1-AS1 IDH1 PIKFYVE PTH2R PIR36576 GC02P208116
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PTH2R on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTH2R gene promoter:

Genomic Locations for PTH2R Gene

Genomic Locations for PTH2R Gene
chr2:208,359,714-208,854,503
(GRCh38/hg38)
Size:
494,790 bases
Orientation:
Plus strand
chr2:209,224,438-209,719,227
(GRCh37/hg19)

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 isoforms=51, isoforms=106, isoforms=116, and isoforms=121

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins

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).

Phenotypes From GWAS Catalog for PTH2R Gene

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:

miRNA for PTH2R Gene

miRTarBase miRNAs that target PTH2R

Clone Products

  • Addgene plasmids for PTH2R

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
extracellular 1
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PTH2R Gene

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,TAS --
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 139
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

Drug Products

Transcripts for PTH2R Gene

mRNA/cDNA for PTH2R Gene

Unigene Clusters for PTH2R Gene

Parathyroid hormone 2 receptor:
Representative Sequences:

Clone Products

  • Addgene plasmids for PTH2R

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 CGAP 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.

Evidence on tissue expression from TISSUES for PTH2R Gene

  • Nervous system(4.4)
  • Eye(4)
genes like me logo Genes that share expression patterns with PTH2R: 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 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 33 34
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia PTH2R 33 34
  • 88.55 (n)
dog
(Canis familiaris)
Mammalia PTH2R 33 34
  • 86.1 (n)
mouse
(Mus musculus)
Mammalia Pth2r 33 16 34
  • 84.31 (n)
rat
(Rattus norvegicus)
Mammalia Pth2r 33
  • 83.52 (n)
oppossum
(Monodelphis domestica)
Mammalia PTH2R 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTH2R 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTH3R 34
  • 48 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PTH2R 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pth2r 33
  • 71 (n)
zebrafish
(Danio rerio)
Actinopterygii pth2r 33 34
  • 65.62 (n)
PTH2R (2 of 2) 34
  • 62 (a)
OneToMany
pthr2 33
fruit fly
(Drosophila melanogaster)
Insecta Dh44-R1 34
  • 26 (a)
ManyToMany
Dh44-R2 34
  • 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

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 Variation AA Info Type
rs10622340 benign, Fleck corneal dystrophy 208,358,400(+) TTTTTTTTTT/TTTTTTTTTTT/TTTTTTTTTTTT/TTTTTTTTTTTTT/TTTTTTTTTTTTTT upstream_transcript_variant
rs114476866 likely-benign, Fleck corneal dystrophy 208,358,629(+) A/G upstream_transcript_variant
rs16841092 benign, Fleck corneal dystrophy 208,357,854(+) G/A/C upstream_transcript_variant
rs553290241 likely-benign, Fleck corneal dystrophy 208,358,043(+) A/G upstream_transcript_variant
rs564043919 likely-benign, Fleck corneal dystrophy 208,357,998(+) A/G upstream_transcript_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for PTH2R

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

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 44 58
  2. Identification and characterization of the murine and human gene encoding the tuberoinfundibular peptide of 39 residues. (PMID: 11861531) John MR … Jüppner H (Endocrinology 2002) 3 4 22 58
  3. Assignment of the human PTH2 receptor gene (PTHR2) to chromosome 2q33 by fluorescence in situ hybridization. (PMID: 8921382) Usdin TB … Bonner TI (Genomics 1996) 3 4 22 58
  4. Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor. (PMID: 7797535) Usdin TB … Bonner TI (The Journal of biological chemistry 1995) 3 4 22 58
  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) Bagó AG … Dobolyi A (Neuroscience 2009) 3 22 58

Products for PTH2R Gene

Sources for PTH2R Gene

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