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
Alphafold	Q96P69 (Hs)
ChEMBL Target	CHEMBL4523908 (Hs)
Ensembl Gene	ENSG00000155269 (Hs)
Entrez Gene	27201 (Hs)
Human Protein Atlas	ENSG00000155269 (Hs)
KEGG Gene	hsa:27201 (Hs)
OMIM	606921 (Hs)
Pharos	Q96P69 (Hs)
RefSeq Nucleotide	NM_080819 (Hs)
RefSeq Protein	NP_543009 (Hs)
UniProtKB	Q96P69 (Hs)
Wikipedia	GPR78 (Hs)

Primary Transduction Mechanisms
Transducer	Effector/Response
Gs family	Adenylyl 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:  VAR_024258, rs17844778 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:  VAR_033474, rs11941659 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:  VAR_033475, rs9685931 Validation:  1000 Genomes, HapMap