<i>GPR148</i> | Class A Orphans | IUPHAR/BPS Guide to PHARMACOLOGY

GPR148

Target id: 134

Nomenclature: GPR148

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 GPR148 in GtoImmuPdb

Gene and Protein Information
class A G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 347 2q14.3 GPR148 G protein-coupled receptor 148
Previous and Unofficial Names
BTR | PGR6 | brain and testis restricted GPCR
Database Links
Specialist databases
GPCRDB gp148_human (Hs)
Other databases
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Tissue Distribution
Brain and testes
Species:  Human
Technique:  Expressed sequence tag
References:  1-2
Gene Expression and Pathophysiology Comments
Small rare recurrent deletion of chromosome 2q21.1, in which GPR148 might be the possible candidate gene, is pathogenic for developmental delay (DD)/intellectual disability (ID), attention-deficit hyperactivity disorder (ADHD), epilepsy and other neurobehavioral abnormalities [1].
Biologically Significant Variants
Type:  Single nucleotide polymorphism
Species:  Human
Amino acid change:  F159S
Global MAF (%):  2
Subpopulation MAF (%):  AFR|AMR: 6|1
Minor allele count:  C=0.016/34
Comment on frequency:  Low frequency (<10% in all tested populations)
SNP accession: 
Validation:  1000 Genomes, Frequency
Type:  Single nucleotide polymorphism
Species:  Human
Amino acid change:  A14G
Global MAF (%):  7
Subpopulation MAF (%):  AFR|AMR|EUR: 22|4|3
Minor allele count:  G=0.066/144
SNP accession: 
Validation:  1000 Genomes, Frequency
Type:  Single nucleotide polymorphism
Species:  Human
Amino acid change:  T317P
Global MAF (%):  5
Subpopulation MAF (%):  AFR|AMR|EUR: 4|5|8
Minor allele count:  A=0.045/99
Comment on frequency:  Low frequency (<10% in all tested populations)
SNP accession: 
Validation:  1000 Genomes, HapMap, Frequency
Type:  Single nucleotide polymorphism
Species:  Human
Amino acid change:  I292T
Global MAF (%):  1
Subpopulation MAF (%):  AFR|AMR: 4|1
Minor allele count:  C=0.009/20
Comment on frequency:  Low frequency (<10% in all tested populations)
SNP accession: 
Validation:  1000 Genomes, Frequency
Type:  Naturally occurring SNP
Species:  Human
Amino acid change:  R323H
Comment on frequency:  Low frequency (<10% in all tested populations)
SNP accession: 
Type:  Naturally occurring SNP
Species:  Human
Amino acid change:  T140P
SNP accession: 
General Comments
GPR148 is absent in the mouse and rat genomes.

References

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1. Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M et al.. (2012) Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum. Mol. Genet., 21 (15): 3345-55. [PMID:22543972]

2. Gloriam DE, Schiöth HB, Fredriksson R. (2005) Nine new human Rhodopsin family G-protein coupled receptors: identification, sequence characterisation and evolutionary relationship. Biochim. Biophys. Acta, 1722 (3): 235-46. [PMID:15777626]

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: GPR148. Last modified on 16/06/2015. Accessed on 15/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=134.