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GPR148

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Target not currently curated in GtoImmuPdb

Target id: 134

Nomenclature: GPR148

Family: Class A Orphans

Contents:

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 7 347 2q21.1 GPR148 G protein-coupled receptor 148
Previous and Unofficial Names Click here for help
BTR | PGR6 | brain and testis restricted GPCR
Database Links Click here for help
Specialist databases
GPCRdb gp148_human (Hs)
Other databases
Alphafold Q8TDV2 (Hs)
ChEMBL Target CHEMBL4523901 (Hs)
Ensembl Gene ENSG00000173302 (Hs)
Entrez Gene 344561 (Hs)
Human Protein Atlas ENSG00000173302 (Hs)
KEGG Gene hsa:344561 (Hs)
Pharos Q8TDV2 (Hs)
RefSeq Nucleotide NM_207364 (Hs)
RefSeq Protein NP_997247 (Hs)
UniProtKB Q8TDV2 (Hs)
Wikipedia GPR148 (Hs)
Tissue Distribution Click here for help
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 Click here for help
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:  rs79432147
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:  rs80008074
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:  rs272128
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:  rs138369389
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:  rs75671160
Type:  Naturally occurring SNP
Species:  Human
Amino acid change:  T140P
SNP accession:  rs78186490
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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