Gene and Protein Information
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

BTR | PGR6 | brain and testis restricted GPCR

Database Links
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
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:  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.