PTH2R - parathyroid hormone 2 receptor Gene

Also Known as PTHR2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5746

About PTH2R

Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:208,359,692-208,494,506 (from NCBI)

This gene has 4 transcripts (splice variants), 214 orthologues and 42 paralogues. Biased expression in bone marrow (RPKM 1.3), salivary gland (RPKM 0.8) and 10 other tissues.

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]

PTH2R Products (5)

mRNA	Protein	Name
NM_001309516.2	NP_001296445.1	parathyroid hormone 2 receptor isoform 2
NM_001371905.1	NP_001358834.1	parathyroid hormone 2 receptor isoform 2
NM_001371906.1	NP_001358835.1	parathyroid hormone 2 receptor isoform 2
NM_001371907.1	NP_001358836.1	parathyroid hormone 2 receptor isoform 3
NM_005048.4	NP_005039.1	parathyroid hormone 2 receptor isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTH2R Protein Structure

HRM

7tm_2

0
100
200
300
400
500
550 a.a.

Protein Preferred Names	Protein Names
parathyroid hormone 2 receptor	PTH2 receptor

PTH2R Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	PTH2R	P49190	DYNLT1	Homo sapiens	P63172	Validated Y2H	32296183
Intra	PTH2R	P49190	DYNLT1	Homo sapiens	P63172	Y2H Prey Pooling	32296183
Intra	PTH2R	P49190	DYNLT1	Homo sapiens	P63172	Y2H Array	32296183
Intra	PTH2R	P49190	HMG20A	Homo sapiens	Q9NP66	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Syndromic Intellectual Disability
Chondrodysplasia, Blomstrand Type	Chondrodysplasia Blomstrand Type BOCD Blomstrand Lethal Chondrodysplasia Blomstrand Lethal Osteochondrodysplasia Blomstrand'S Lethal Chondrodysplasia Blc Blomstrand Chondrodysplasia Blomstrand Osteochondrodysplasia
Isolated Growth Hormone Deficiency, Type Ib	Isolated Growth Hormone Deficiency Type Ib IGHD1B Ighd Ib Growth Hormone Deficiency, Isolated, Type Ib Congenital Ighd Type Ib Congenital Isolated Gh Deficiency Type Ib Congenital Isolated Growth Hormone Deficiency Type Ib Dwarfism Of Sindh Pituitary Dwarfism I Isolated Growth Hormone Deficiency Type 1b Ighd 1b Growth Hormone Deficiency, Isolated, 1b
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type Jansen'S Metaphyseal Chondrodysplasia MCDJ Murk Jansen Type Metaphyseal Chondrodysplasia Jansen Type Metaphyseal Chondrodysplasia Jansen Disease Jansen Metaphyseal Chondrodysplasia Jansen Metaphyseal Dysostosis Metaphyseal Chondrodysplasia Murk Jansen Type Chondrodysplasia, Metaphyseal, Murk Jansen Type
Benign Chronic Pemphigus	Hailey-Hailey Disease Pemphigus, Benign Familial Familial Benign Pemphigus Benign Familial Pemphigus Familial Benign Chronic Pemphigus BCPM HHD Benign Chronic Familial Pemphigus Of Hailey-Hailey Pemphigus, Chronic, Benign

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-P1852	TIP 39, Tuberoinfundibular Neuropeptide	Agonist	99.84%	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	PTH2R	VGNC	VGNC:33516
Canis familiaris	PTH2R	VGNC	VGNC:45156
Macaca mulatta	PTH2R	VGNC	VGNC:76592
Mus musculus	PTH2R	MGD	MGI:2180917
Rattus norvegicus	PTH2R	RGD	RGD:620612
Felis catus	PTH2R	VGNC	VGNC:69151
Others	PTH2R	NCBI