Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (1)

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

Show/Hide all (15)

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

Show/Hide all (18)

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

MIM	HGNC	e!Ensembl
601469	9609	ENSG00000144407

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

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction		Class B/2 (Secretin family receptors) G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Syndromic intellectual disability	Likely pathogenic	rs1553546045	RCV000578474

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
PTH2R-related disorder	Uncertain significance; Likely benign; Benign	rs149297616, rs140566891, rs1702105570, rs556412837, rs1702106105, rs759373744, rs552308424, rs201505451, rs182530906, rs753962657, rs16841294, rs61742329	RCV003936654 RCV003906591 RCV003408623 RCV003966392 RCV003921600 RCV003964647 RCV003933916 RCV003959526 RCV003931551 RCV003914377 RCV003979153 RCV003979159
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs140566891	RCV005932451

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aicardi Goutieres syndrome	Associate	24552219
Carcinoma Hepatocellular	Associate	22997493
Craniosynostoses	Associate	26044810
Dementia	Associate	36421848
Genetic Diseases Inborn	Associate	34353904
Growth Disorders	Associate	34353904
Leukemia Myeloid Acute	Associate	23233446
Mental Disorders	Associate	17227961
Neoplasm Metastasis	Associate	30661062
Neoplasms	Associate	30661062
Osteoarthritis	Associate	24716474
Osteoporosis	Associate	34977236
Thyroid Cancer Papillary	Associate	30661062

PTH2R (parathyroid hormone 2 receptor)