PTH2R - parathyroid hormone 2 receptor Gene

Also Known as PTHR2

Species: Homo sapiens

Gene Type: protein coding
Gene 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
Molecular Function GO Annotation Evidence Références Source
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

HRM: Hormone receptor domain (62 - 126)

7tm_2

7tm_2: 7 transmembrane receptor (Secretin family) (142 - 409)

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  • 100
  • 200
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  • 500
  • 550 a.a.
Protein Preferred Names Protein Names

parathyroid hormone 2 receptor

  • PTH2 receptor

PTH2R Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
PTH2R P49190 DYNLT1 Homo sapiens P63172 32296183
Intra
PTH2R P49190 DYNLT1 Homo sapiens P63172 32296183
Intra
PTH2R P49190 DYNLT1 Homo sapiens P63172 32296183
Intra
PTH2R P49190 HMG20A Homo sapiens Q9NP66 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

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

Orthologs Information

Species Symbol Source 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