<i>GPR78</i> | Class A Orphans | IUPHAR/BPS Guide to PHARMACOLOGY

GPR78

Target id: 116

Nomenclature: GPR78

Family: Class A Orphans

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for GPR78 in GtoImmuPdb

Gene and Protein Information
class A G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 363 4p16.1 GPR78 G protein-coupled receptor 78 2
Database Links
Specialist databases
GPCRDB gpr78_human (Hs)
Other databases
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Primary Transduction Mechanisms
Transducer Effector/Response
Gs family Adenylate cyclase stimulation
References:  1
Tissue Distribution
Pituitary, placenta
Species:  Human
Technique:  Northern blot
References:  2
Brain (low expression), placenta
Species:  Human
Technique:  RT-PCR
References:  1
Functional Assays
Constitutively active, coupled to elevated cAMP production
Species:  Human
Tissue:  HEK 293 cells
Response measured:  Elevated cAMP production
References:  1
Clinically-Relevant Mutations and Pathophysiology Comments
Preliminary evidence for the involvement of GPR78 in susceptibility to bipolar disorder and schizophrenia [3].
Biologically Significant Variants
Type:  Single nucleotide polymorphism
Species:  Human
Amino acid change:  R201S
Global MAF (%):  16
Subpopulation MAF (%):  AFR|AMR|ASN|EUR: 6|25|1|30
Minor allele count:  C=0.162/353
SNP accession: 
Validation:  1000 Genomes, Frequency, Multiple observations
Type:  Single nucleotide polymorphism
Species:  Human
Amino acid change:  A330T
Global MAF (%):  1
Subpopulation MAF (%):  AFR|AMR|ASN|EUR: 2|1|1|1
Minor allele count:  A=0.011/23
Comment on frequency:  Low frequency (<10% in all tested populations)
SNP accession: 
Validation:  1000 Genomes, HapMap
Type:  Single nucleotide polymorphism
Species:  Human
Amino acid change:  R342H
Global MAF (%):  11
Subpopulation MAF (%):  AFR|AMR|ASN|EUR: 23|7|4|12
Minor allele count:  A=0.114/249
SNP accession: 
Validation:  1000 Genomes, HapMap

References

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1. Jones PG, Nawoschik SP, Sreekumar K, Uveges AJ, Tseng E, Zhang L, Johnson J, He L, Paulsen JE, Bates B, Pausch MH. (2007) Tissue distribution and functional analyses of the constitutively active orphan G protein coupled receptors, GPR26 and GPR78. Biochim. Biophys. Acta, 1770 (6): 890-901. [PMID:17363172]

2. Lee DK, Nguyen T, Lynch KR, Cheng R, Vanti WB, Arkhitko O, Lewis T, Evans JF, George SR, O'Dowd BF. (2001) Discovery and mapping of ten novel G protein-coupled receptor genes. Gene, 275: 83-91. [PMID:11574155]

3. Underwood SL, Christoforou A, Thomson PA, Wray NR, Tenesa A, Whittaker J, Adams RA, Le Hellard S, Morris SW, Blackwood DH, Muir WJ, Porteous DJ, Evans KL. (2006) Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia. Mol. Psychiatry, 11 (4): 384-94. [PMID:16389273]

Contributors

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How to cite this page

Anthony P. Davenport, Stephen Alexander, Joanna L. Sharman, Adam J. Pawson, Helen E. Benson, Amy E. Monaghan, Wen Chiy Liew, Chido Mpamhanga, Jim Battey, Richard V. Benya, Robert T. Jensen, Sadashiva Karnik, Evi Kostenis, Eliot Spindel, Laura Storjohann, Kalyan Tirupula, Tom I. Bonner, Richard Neubig, Jean-Philippe Pin, Michael Spedding, Anthony Harmar.
Class A Orphans: GPR78. Last modified on 16/06/2015. Accessed on 19/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=116.