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

Gene ID: 5746, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (208359692..208494506)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (208839502..208974285)
105.20220307 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
  • 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. 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
  3. Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine. Åkesson K, et al. J Bone Miner Metab, 2015 Jan. PMID 24378925
  4. 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
  5. 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

See all (31) 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)

Genotypes

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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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_2023_10

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

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