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... See more...

Aliases for PTH2R Gene

Aliases for PTH2R Gene

  • Parathyroid Hormone 2 Receptor 2 3 4 5
  • Parathyroid Hormone Receptor 2 2 3
  • PTH2 Receptor 3 4
  • PTHR2 3 4
  • PTH2R 5

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. Diseases associated with PTH2R include Syndromic Intellectual Disability. Among its related pathways are Signaling by GPCR and G alpha (s) signalling events. 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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTH2R Gene

Genomics for PTH2R Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH02J208359 Promoter 0.7 Ensembl 600.7 -0.1 -91 0.8 SP1 POLR2A RBM22 SPI1 GABPA HNF4A REST RFX5 ARPC1BP1 PTH2R lnc-IDH1-2 PIKFYVE piR-43577
GH02J208264 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.3 -93.1 -93053 3.9 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 IKZF1 NFKBIZ POLR2A PIKFYVE IDH1 CREB1 PTH2R MYL6BP1
GH02J208251 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.8 -105.9 -105898 4.8 ARHGAP35 CEBPG SP1 HNRNPL GATAD2A CTCF ATF7 PRDM10 REST TFE3 IDH1-AS1 PIKFYVE lnc-C2orf80-1 IDH1 CREB1 PTH2R piR-30449-089 C2orf80
GH02J208370 Enhancer 0.8 Ensembl 17 +11.2 11209 1 RFX1 RCOR2 RXRB SP1 HDAC1 SOX6 CEBPA TCF12 EP300 FOXA1 PTH2R PIKFYVE piR-56451-066 piR-48821-009
GH02J208369 Enhancer 0.8 Ensembl 17 +10.0 10009 1 GATAD2A RCOR2 RXRB SP1 PBX2 CEBPA SOX13 CEBPB JUND FOXA1 PTH2R piR-48821-009 piR-56451-066
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTH2R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTH2R

Top Transcription factor binding sites by QIAGEN in the PTH2R gene promoter:
  • aMEF-2
  • CBF(2)
  • CBF-A
  • CBF-B
  • CUTL1
  • MEF-2A
  • Pax-3
  • Sox5
  • TBP

Genomic Locations for PTH2R Gene

Genomic Locations for PTH2R Gene
chr2:208,359,692-208,854,503
(GRCh38/hg38)
Size:
494,812 bases
Orientation:
Plus strand
chr2:209,224,438-209,719,227
(GRCh37/hg19)
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 Asn51, Asn106, Asn116, and Asn121
  • 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

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

Protein Domains for PTH2R Gene

InterPro:
Blocks:
  • G-protein coupled receptors family 2 (secretin-like)
ProtoNet:

Suggested Antigen Peptide Sequences for PTH2R Gene

GenScript: Design optimal peptide antigens:
  • Parathyroid hormone 2 receptor (PTH2R_HUMAN)

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,IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0008528 G protein-coupled peptide receptor activity IBA 21873635
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

CRISPR Products

miRNA for PTH2R Gene

miRTarBase miRNAs that target PTH2R

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 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 --
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA 21873635
GO:0120162 positive regulation of cold-induced thermogenesis IEA,ISS 22159128
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 354
Teriparatide Approved, Investigational Pharma binder 152
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 Agonist, Full 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)
Agonist, Full agonist
PTHrP-(1-34)
Agonist, Full 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

5 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 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 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

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 and MOPED for PTH2R Gene



Protein tissue co-expression partners for PTH2R Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Eye(4.1)
  • Kidney(2.5)
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 30 31
  • 99.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTH2R 30 31
  • 88.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTH2R 30 31
  • 86.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pth2r 30 17 31
  • 84.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pth2r 30
  • 83.52 (n)
Oppossum
(Monodelphis domestica)
Mammalia PTH2R 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PTH2R 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PTH3R 31
  • 48 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia PTH2R 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pth2r 30
  • 71 (n)
Zebrafish
(Danio rerio)
Actinopterygii pth2r 30 31
  • 65.62 (n)
OneToMany
PTH2R (2 of 2) 31
  • 62 (a)
OneToMany
pthr2 30
Fruit Fly
(Drosophila melanogaster)
Insecta Dh44-R1 31
  • 26 (a)
ManyToMany
Dh44-R2 31
  • 25 (a)
ManyToMany
Species where no ortholog for PTH2R 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)
  • 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PTH2R Gene

ENSEMBL:
Gene Tree for PTH2R (if available)
TreeFam:
Gene Tree for PTH2R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTH2R: view image

Paralogs for PTH2R Gene

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

  • PTH2R_HUMAN
  • H7C0B0_HUMAN
genes like me logo Genes that share paralogs with PTH2R: view

Variants for PTH2R Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTH2R Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
739866 Likely Benign: not provided 208,444,885(+) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
777140 Benign: not provided 208,489,005(+) C/T INTRON_VARIANT
779079 Benign: not provided 208,407,049(+) C/A SYNONYMOUS_VARIANT,INTRON_VARIANT
788217 Benign: not provided 208,459,943(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1553546045 Likely Pathogenic: Syndromic intellectual disability 208,442,425(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for PTH2R Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PTH2R Gene

MalaCards: The human disease database

(1) MalaCards diseases for PTH2R Gene - From: GeneCards

Disorder Aliases PubMed IDs
syndromic intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search PTH2R in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTH2R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PTH2R: view

No data available for 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 23 41
  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 23
  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 23
  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 23
  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 23

Products for PTH2R Gene

Sources for PTH2R Gene