PTH2R (parathyroid hormone 2 receptor)

Gene

• Entrez ID: 5746
• Gene name: Parathyroid hormone 2 receptor
• Gene symbol: PTH2R
• Synonyms (NCBI Gene): PTHR2
• Chromosome: 2
• Chromosome location: 2q34
• 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 t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553546045	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022285	hsa-miR-124-3p	Microarray	18668037
MIRT1273380	hsa-miR-3154	CLIP-seq
MIRT1273381	hsa-miR-4764-5p	CLIP-seq
MIRT1273382	hsa-miR-548n	CLIP-seq
MIRT1273383	hsa-miR-562	CLIP-seq
MIRT1273384	hsa-miR-586	CLIP-seq
MIRT2306585	hsa-miR-3157-5p	CLIP-seq
MIRT2306586	hsa-miR-323-3p	CLIP-seq
MIRT2306587	hsa-miR-3545-3p	CLIP-seq
MIRT2306588	hsa-miR-4680-5p	CLIP-seq
MIRT2604295	hsa-miR-3619-3p	CLIP-seq
MIRT2604296	hsa-miR-4535	CLIP-seq
MIRT2604297	hsa-miR-4641	CLIP-seq
MIRT2604298	hsa-miR-4690-3p	CLIP-seq
MIRT2604299	hsa-miR-4776-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004991	Function	Parathyroid hormone receptor activity	IBA
GO:0004991	Function	Parathyroid hormone receptor activity	TAS	7797535
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7797535
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	7797535
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0017046	Function	Peptide hormone binding	IBA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	22159128

Other IDs

• MIM: 601469
• HGNC: 9609
• e!Ensembl: ENSG00000144407

Protein

• UniProt ID: P49190
• Protein name: Parathyroid hormone 2 receptor (PTH2 receptor)
• Protein 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 significan
• PDB: 7F16
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02793	HRM	60 → 128	Hormone receptor domain	Family
  PF00002	7tm_2	141 → 409	7 transmembrane receptor (Secretin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed abundantly in brain and pancreas. Also expressed in the testis. {ECO:0000269|PubMed:7797535}.
• Sequence:

  MAGLGASLHVWGWLMLGSCLLARAQLDSDGTITIEEQIVLVLKAKVQCELNITAQLQEGE
  GNCFPEWDGLICWPRGTVGKISAVPCPPYIYDFNHKGVAFRHCNPNGTWDFMHSLNKTWA
  NYSDCLRFLQPDISIGKQEFFERLYVMYTVGYSISFGSLAVAILIIGYFRRLHCTRNYIH
  MHLFVSFMLRATSIFVKDRVVHAHIGVKELESLIMQDDPQNSIEATSVDKSQYIGCKIAV
  VMFIYFLATNYYWILVEGLYLHNLIFVAFFSDTKYLWGFILIGWGFPAAFVAAWAVARAT
  LADARCWELSAGDIKWIYQAPILAAIGLNFILFLNTVRVLATKIWETNAVGHDTRKQYRK
  LAKSTLVLVLVFGVHYIVFVCLPHSFTGLGWEIRMHCELFFNSFQGFFVSIIYCYCNGEV
  QAEVKKMWSRWNLSVDWKRTPPCGSRRCGSVLTTVTHSTSSQSQVAASTRMVLISGKAAK
  IASRQPDSHITLPGYVWSNSEQDCLPHSFHEETKEDSGRQGDDILMEKPSRPMESNPDTE
  GCQGETEDVL

• Sequence length: 550

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Class B/2 (Secretin family receptors)
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Syndromic intellectual disability	Likely pathogenic	rs1553546045	RCV000578474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTH2R-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	24552219	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22997493	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	26044810	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	26044810		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16912703		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	36421848	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34353904	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	31423747		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23233446	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	30116032		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24716474	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34977236	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30661062	Associate	★☆☆☆☆ Found in Text Mining only