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    PTH2R parathyroid hormone 2 receptor [ Homo sapiens (human) ]

    Gene ID: 5746, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PTH2Rprovided by HGNC
    Official Full Name
    parathyroid hormone 2 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:9609
    See related
    Ensembl:ENSG00000144407 MIM:601469; AllianceGenome:HGNC:9609
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTHR2
    Summary
    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]
    Expression
    Biased expression in bone marrow (RPKM 1.3), salivary gland (RPKM 0.8) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PTH2R in Genome Data Viewer
    Location:
    2q34
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (208359692..208494506)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (208839502..208974285)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (209224416..209359231)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:209119503-209120029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:209134199-209134700 Neighboring gene IDH1 antisense RNA 1 Neighboring gene phosphoinositide kinase, FYVE-type zinc finger containing Neighboring gene MYL6B pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12290 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:209241536-209242336 Neighboring gene ARPC1B pseudogene 1 Neighboring gene uncharacterized LOC105373855 Neighboring gene MPRA-validated peak4030 silencer Neighboring gene H3 histone pseudogene 9 Neighboring gene uncharacterized LOC101927960 Neighboring gene uncharacterized LOC105373857 Neighboring gene uncharacterized LOC105373856

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular insights into differentiated ligand recognition of the human parathyroid hormone receptor 2. Wang X, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34353904, Free PMC Article
    2. Assignment of the human PTH2 receptor gene (PTHR2) to chromosome 2q33 by fluorescence in situ hybridization. Usdin TB, et al. Genomics, 1996 Oct 1. PMID 8921382
    3. The parathyroid hormone-2 receptor is expressed on human leukocytes and down-regulated in hyperparathyroidism. Seeliger S, et al. Clin Nephrol, 2003 Jun. PMID 12834174
    4. Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement. Kim J, et al. J Med Genet, 2015 Oct. PMID 26044810, Free PMC Article
    5. Evidence for the expression of parathyroid hormone 2 receptor in the human brainstem. Bagó AG, et al. Ideggyogy Sz, 2008 Mar 30. PMID 18459453, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular insights into differentiated ligand recognition of the human parathyroid hormone receptor 2.
      Title: Molecular insights into differentiated ligand recognition of the human parathyroid hormone receptor 2.
    2. expressed in the epidermis in Darier disease
      Title: The parathyroid hormone family member TIP39 interacts with sarco/endoplasmic reticulum Ca(2+) - ATPase activity by influencing calcium homoeostasis.
    3. PTH2R and its ligand TIP39 regulate intracellular calcium and influence keratinocyte differentiation
      Title: The Parathyroid Hormone Second Receptor PTH2R and its Ligand Tuberoinfundibular Peptide of 39 Residues TIP39 Regulate Intracellular Calcium and Influence Keratinocyte Differentiation.
    4. Authors report PTH2R as a gene that is disrupted in NSC. The disruption of the PTH2R gene may cause uncontrolled proliferation and differentiation of chondrocytes.
      Title: Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.
    5. Variation in the PTH2R gene (Chr2q34, rs897083) may contribute to the age-associated degenerative manifestations that develop at the lumbar spine
      Title: Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine.
    6. Data suggest role for PTH2R signaling in postnatal growth plate development and subsequent bone mass acquisition; overexpression of human PTH2R in chondrocytes of transgenic mice has key consequences on postnatal development of endochondral skeleton.
      Title: Defective postnatal endochondral bone development by chondrocyte-specific targeted expression of parathyroid hormone type 2 receptor.
    7. PTH-receptors regulate norepinephrine release in human heart and kidney
      Title: PTH-receptors regulate norepinephrine release in human heart and kidney.
    8. The results demonstrate that TIP39 and the PTH2R are expressed in the brain of primates in locations that suggest involvement in regulation of fear, anxiety, reproductive behaviors, release of pituitary hormones, and nociception.
      Title: 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.
    9. Different receptor subtype properties were used to demonstrate that residue 41 in PTH-1R, when either the native Leu or substituted by Ile or Met, can accommodate either Phe or Trp at position 23 of the ligand.
      Title: Ligand-receptor interactions at the parathyroid hormone receptors: subtype binding selectivity is mediated via an interaction between residue 23 on the ligand and residue 41 on the receptor.
    10. The distribution of PTH2R-immunoreactive fibers in viscerosensory brain regions is similar to that reported in mouse and rat suggesting a similar role of the PTH2R in human as in rodents.
      Title: Evidence for the expression of parathyroid hormone 2 receptor in the human brainstem.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables parathyroid hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide hormone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    parathyroid hormone 2 receptor
    Names
    PTH2 receptor
    parathyroid hormone receptor 2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001309516.2 → NP_001296445.1  parathyroid hormone 2 receptor isoform 2

      See identical proteins and their annotated locations for NP_001296445.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in the use of an in-frame downstream start site, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC012362, AC019185, AK294181, BC036811, DB536374
      Consensus CDS
      CCDS82565.1
      UniProtKB/TrEMBL
      B4DFN8
      Related
      ENSP00000482485.1, ENST00000617735.4
      Conserved Domains (1) summary
      cd15982
      Location:30 → 319
      7tmB1_PTH2R; parathyroid hormone 2 receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

    2. NM_001371905.1 → NP_001358834.1  parathyroid hormone 2 receptor isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012362, AC019185, KF495708
      Consensus CDS
      CCDS82565.1
      UniProtKB/TrEMBL
      B4DFN8
      Conserved Domains (1) summary
      cd15982
      Location:30 → 319
      7tmB1_PTH2R; parathyroid hormone 2 receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

    3. NM_001371906.1 → NP_001358835.1  parathyroid hormone 2 receptor isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012362, AC019185, KF495708
      Consensus CDS
      CCDS82565.1
      UniProtKB/TrEMBL
      B4DFN8
      Conserved Domains (1) summary
      cd15982
      Location:30 → 319
      7tmB1_PTH2R; parathyroid hormone 2 receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

    4. NM_001371907.1 → NP_001358836.1  parathyroid hormone 2 receptor isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC012362, AC019185, KF495708
      Conserved Domains (2) summary
      cd14964
      Location:32 → 57
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:30 → 217
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    5. NM_005048.4 → NP_005039.1  parathyroid hormone 2 receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_005039.1

      Status: REVIEWED

      Source sequence(s)
      AC012362, AC019185
      Consensus CDS
      CCDS2383.1
      UniProtKB/Swiss-Prot
      P49190, Q8N429
      Related
      ENSP00000272847.2, ENST00000272847.7
      Conserved Domains (2) summary
      smart00008
      Location:60 → 125
      HormR; Domain present in hormone receptors
      cd15982
      Location:141 → 430
      7tmB1_PTH2R; parathyroid hormone 2 receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

    RNA

    1. NR_163991.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC012362, AC019185, KF495708

    2. NR_163992.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC012362, AC019185, KF495708

    3. NR_163993.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC012362, AC019185, KF495708

    4. NR_163994.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC012362, AC019185, KF495708

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      208359692..208494506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      208839502..208974285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49190.1 GenPept UniProtKB/Swiss-Prot:P49190

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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