Top ▲

GPR78

Click here for help

Target not currently curated in GtoImmuPdb

Target id: 116

Nomenclature: GPR78

Family: Class A Orphans

Gene and Protein Information Click here for help
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 Click here for help
Specialist databases
GPCRDB gpr78_human (Hs)
Other databases
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Primary Transduction Mechanisms Click here for help
Transducer Effector/Response
Gs family Adenylyl cyclase stimulation
References:  1
Tissue Distribution Click here for help
Pituitary, placenta
Species:  Human
Technique:  Northern blot
References:  2
Brain (low expression), placenta
Species:  Human
Technique:  RT-PCR
References:  1
Functional Assays Click here for help
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 Click here for help
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

Show »

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 (1): 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

Show »

How to cite this page