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Gene: GPR52 (G protein-coupled receptor 52) Homo sapiens

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Symbol:

GPR52

Name:

G protein-coupled receptor 52

RGD ID:

1353875

HGNC Page

HGNC:4508

Description:

Enables G protein-coupled receptor activity. Involved in response to xenobiotic stimulus. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

G-protein coupled receptor 52; MGC111751; probable G-protein coupled receptor 52

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	174,447,964 - 174,449,545 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	174,447,964 - 174,449,545 (+)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	1	174,417,102 - 174,418,683 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	172,683,835 - 172,685,306 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	1	171,148,906 - 171,149,992	NCBI
Celera	1	147,526,602 - 147,528,073 (+)	NCBI		Celera
Cytogenetic Map	1	q25.1	NCBI
HuRef	1	145,642,851 - 145,644,322 (+)	NCBI		HuRef
CHM1_1	1	175,839,796 - 175,841,267 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	173,805,945 - 173,807,526 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

benzo[a]pyrene (EXP)

folic acid (ISO)

hydrogen peroxide (EXP)

ozone (EXP)

perfluorononanoic acid (ISO)

T-2 toxin (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to light stimulus (IBA)

detection of visible light (IEA)

G protein-coupled receptor signaling pathway (IBA,IEA,TAS)

locomotory behavior (ISO,ISS)

phototransduction (IBA)

response to xenobiotic stimulus (IDA)

signal transduction (IEA)

Cellular Component

membrane (IEA)

plasma membrane (IBA,IEA,TAS)

Molecular Function

G protein-coupled photoreceptor activity (IBA)

G protein-coupled receptor activity (IDA,IEA,TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9931487	PMID:12477932	PMID:15489334	PMID:16344560	PMID:16710414	PMID:21044950	PMID:21873635	PMID:23333304	PMID:24587241	PMID:25738228	PMID:26186194	PMID:28514442
PMID:32076264	PMID:32519845	PMID:32814053	PMID:33258587	PMID:33961781

Genomics

Comparative Map Data

GPR52
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	174,447,964 - 174,449,545 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	174,447,964 - 174,449,545 (+)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	1	174,417,102 - 174,418,683 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	172,683,835 - 172,685,306 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	1	171,148,906 - 171,149,992	NCBI
Celera	1	147,526,602 - 147,528,073 (+)	NCBI		Celera
Cytogenetic Map	1	q25.1	NCBI
HuRef	1	145,642,851 - 145,644,322 (+)	NCBI		HuRef
CHM1_1	1	175,839,796 - 175,841,267 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	173,805,945 - 173,807,526 (+)	NCBI		T2T-CHM13v2.0

Gpr52
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	160,402,287 - 160,407,274 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	160,402,289 - 160,407,590 (-)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	1	160,574,717 - 160,579,704 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	160,576,338 - 160,577,974 (-)	Ensembl		GRCm38.p6 Ensembl	mm10	GRCm38
MGSCv37	1	162,506,799 - 162,507,884 (-)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	1	162,413,345 - 162,414,430 (-)	NCBI		MGSCv36	mm8
Celera	1	162,983,200 - 162,984,285 (-)	NCBI		Celera
Cytogenetic Map	1	H2.1	NCBI
cM Map	1	69.75	NCBI

Gpr52
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	75,333,683 - 75,338,407 (-)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	13	75,332,901 - 75,339,351 (-)	Ensembl				GRCr8
mRatBN7.2	13	72,800,265 - 72,804,989 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	72,800,127 - 72,806,180 (-)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	13	75,391,748 - 75,396,473 (-)	NCBI	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	76,677,348 - 76,682,072 (-)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	73,936,899 - 73,941,623 (-)	NCBI	UTH_Rnor_WKY_Bbb_1.0
Dahl_SR_JrHsd	13	74,688,498 - 74,693,223 (-)	NCBI
Lyon_Normotensive	13	74,896,390 - 74,901,115 (-)	NCBI
Lyon_Hypertensive	13	74,850,495 - 74,855,219 (-)	NCBI
F344_StmMcwi	13	74,880,103 - 74,884,827 (-)	NCBI
Rnor_6.0	13	78,326,545 - 78,331,349 (-)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	78,326,545 - 78,329,680 (-)	Ensembl		Rnor_6.0 Ensembl	rn6	Rnor6.0
Celera	13	72,603,008 - 72,607,732 (-)	NCBI		Celera
Cytogenetic Map	13	q22	NCBI

Gpr52
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955406	14,415,252 - 14,420,251 (+)	Ensembl		ChiLan1.0 Ensembl
ChiLan1.0	NW_004955406	14,415,252 - 14,420,251 (+)	NCBI	ChiLan1.0	ChiLan1.0

GPR52
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	75,269,104 - 75,288,182 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	74,957,497 - 74,961,896 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	149,954,556 - 149,959,653 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	153,658,348 - 153,659,970 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2

GPR52
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	7	24,858,588 - 24,862,982 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	7	24,860,473 - 24,862,117 (-)	Ensembl		CanFam3.1 Ensembl	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	7	24,383,660 - 24,388,208 (-)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	7	24,599,380 - 24,603,928 (-)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	7	24,596,655 - 24,810,192 (-)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	7	24,512,474 - 24,517,022 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	7	24,602,982 - 24,607,530 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	7	24,747,842 - 24,752,390 (-)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Gpr52
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mIctTri1.hap1	10	8,035,796 - 8,042,287 (+)	NCBI		mIctTri1.hap1
HiC_Itri_2	NW_024409344	95,740,744 - 95,747,363 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936481	13,588,705 - 13,593,018 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GPR52
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	116,643,037 - 116,647,996 (+)	Ensembl		Sscrofa11.1 Ensembl	susScr11	Sscrofa11.1
Sscrofa11.1	9	116,639,223 - 116,648,001 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	128,322,434 - 128,326,761 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GPR52
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mChlSab1.0.hap1	25	55,258,473 - 55,285,241 (-)	NCBI		mChlSab1.0.hap1
Vero_WHO_p1.0	NW_023666055	56,311,993 - 56,315,653 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0
ChlSab1.1	25	54,757,376 - 54,758,761 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2

Gpr52
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624771	7,460,199 - 7,467,519 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2
HetGla_female_1.0 Ensembl	NW_004624771	7,463,809 - 7,467,044 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
Naked mole-rat maternal Ensembl	24	18,701,804 - 18,722,489 (+)	Ensembl

Gpr52
(Rattus rattus - black rat)

Black Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Black Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rrattus_CSIRO_v1	10	39,853,404 - 39,857,030 (-)	NCBI	Rrattus_CSIRO_v1	Rrattus_CSIRO_v1

Variants

Variants in GPR52
27 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	copy number gain	See cases [RCV000051854]	Chr1:1q23.1-25.1	pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	copy number gain	See cases [RCV000051856]	Chr1:1q23.3-25.2	pathogenic
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	copy number loss	Posteriorly rotated ears [RCV000053918]	Chr1:1q24.2-25.1	pathogenic
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000053917]	Chr1:1q24.1-25.1	pathogenic
NM_005684.4(GPR52):c.527C>T (p.Ser176Phe)	single nucleotide variant	Malignant melanoma [RCV000059994]	Chr1:174448638 [GRCh38] Chr1:174417776 [GRCh37] Chr1:172684399 [NCBI36] Chr1:1q25.1	not provided
NM_005684.4(GPR52):c.329A>T (p.Glu110Val)	single nucleotide variant	Malignant melanoma [RCV000064323]	Chr1:174448440 [GRCh38] Chr1:174417578 [GRCh37] Chr1:172684201 [NCBI36] Chr1:1q25.1	not provided
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	copy number gain	Generalized hypotonia [RCV000134876]	Chr1:1q24.3-31.1	pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	copy number loss	See cases [RCV000137128]	Chr1:1q24.2-25.2	pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000142369]	Chr1:1q24.3-31.2	pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	copy number loss	Cryptorchidism [RCV000143292]	Chr1:1q23.3-25.1	pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	copy number loss	Cleft palate [RCV000143688]	Chr1:1q24.2-31.1	pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	copy number gain	Pierre-Robin sequence [RCV000143515]	Chr1:1q21.2-25.2	pathogenic
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	copy number loss	Gastroesophageal reflux [RCV000239775]	Chr1:1q24.3-25.3	pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	copy number gain	not provided [RCV000767621]	Chr1:1q24.2-25.3	pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	copy number loss	not provided [RCV000767779]	Chr1:1q23.2-25.1	pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000447098]	Chr1:1q23.3-25.3	pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1	copy number loss	See cases [RCV000447593]	Chr1:169873155..181823980 [GRCh37] Chr1:1q24.2-25.3	pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1	copy number loss	See cases [RCV000448686]	Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	Syndactyly [RCV000510383]	Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:1p36.33-q44	pathogenic
NM_005684.5(GPR52):c.82C>T (p.Pro28Ser)	single nucleotide variant	not specified [RCV004301907]	Chr1:174448193 [GRCh38] Chr1:174417331 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.314C>T (p.Ser105Phe)	single nucleotide variant	not specified [RCV004298189]	Chr1:174448425 [GRCh38] Chr1:174417563 [GRCh37] Chr1:1q25.1	uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	copy number gain	See cases [RCV000512520]	Chr1:1q25.1-25.3	likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1	copy number loss	not provided [RCV000736717]	Chr1:159815642..177026983 [GRCh37] Chr1:1q23.2-25.2	pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1	copy number loss	not provided [RCV000736735]	Chr1:173131908..187406532 [GRCh37] Chr1:1q25.1-31.1	pathogenic
GRCh37/hg19 1q25.1(chr1:174303636-174444800)x3	copy number gain	not provided [RCV000736739]	Chr1:174303636..174444800 [GRCh37] Chr1:1q25.1	benign
GRCh37/hg19 1q25.1(chr1:174303636-174520161)x3	copy number gain	not provided [RCV000736740]	Chr1:174303636..174520161 [GRCh37] Chr1:1q25.1	benign
GRCh37/hg19 1q25.1(chr1:174329323-174493211)x3	copy number gain	not provided [RCV000736741]	Chr1:174329323..174493211 [GRCh37] Chr1:1q25.1	benign
GRCh37/hg19 1q25.1(chr1:174356463-174520161)x3	copy number gain	not provided [RCV000736742]	Chr1:174356463..174520161 [GRCh37] Chr1:1q25.1	benign
GRCh37/hg19 1q25.1(chr1:174374304-174444800)x3	copy number gain	not provided [RCV000736743]	Chr1:174374304..174444800 [GRCh37] Chr1:1q25.1	benign
GRCh37/hg19 1q25.1(chr1:174374368-174493211)x3	copy number gain	not provided [RCV000736744]	Chr1:174374368..174493211 [GRCh37] Chr1:1q25.1	benign
GRCh37/hg19 1q25.1(chr1:174384928-174444800)x3	copy number gain	not provided [RCV000736745]	Chr1:174384928..174444800 [GRCh37] Chr1:1q25.1	benign
Single allele	deletion	Brachycephaly [RCV000754969]	Chr1:169095250..175778910 [GRCh37] Chr1:1q24.2-25.1	pathogenic
NM_005684.5(GPR52):c.701C>T (p.Thr234Ile)	single nucleotide variant	not specified [RCV004317791]	Chr1:174448812 [GRCh38] Chr1:174417950 [GRCh37] Chr1:1q25.1	uncertain significance
GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	copy number loss	not provided [RCV001005149]	Chr1:1q24.2-25.1	pathogenic
NM_005684.5(GPR52):c.1063C>T (p.Arg355Trp)	single nucleotide variant	not provided [RCV000967811]	Chr1:174449174 [GRCh38] Chr1:174418312 [GRCh37] Chr1:1q25.1	benign
NC_000001.10:g.172652343_183538289del10885947	deletion	1q24q25 microdeletion syndrome [RCV000785662]	Chr1:172652343..183538289 [GRCh37] Chr1:1q24.3-25.3	pathogenic
GRCh37/hg19 1q25.1(chr1:174353465-174689925)x1	copy number loss	not provided [RCV000848231]	Chr1:1q25.1	uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	copy number gain	not provided [RCV001258487]	Chr1:1q25.1-25.3	pathogenic
GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1	copy number loss	not provided [RCV001258486]	Chr1:1q25.1-25.2	uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]	Chr1:1q12-44	uncertain significance
GRCh37/hg19 1q25.1(chr1:174330817-174607307)x1	copy number loss	not provided [RCV001834399]	Chr1:1q25.1	likely benign
NC_000001.11:g.173501975_175305010del	deletion	Deep vein thrombosis [RCV001779970]	Chr1:173501975..175305010 [GRCh38] Chr1:1q25.1	pathogenic
NC_000001.11:g.173848142_174816147del	deletion	Hereditary antithrombin deficiency [RCV001779992]	Chr1:173848142..174816147 [GRCh38] Chr1:1q25.1	pathogenic
NC_000001.11:g.173686375_176083118del	deletion	Arterial thrombosis [RCV001779974]	Chr1:173686375..176083118 [GRCh38] Chr1:1q25.1	pathogenic
NC_000001.11:g.172987296_174843232del	deletion	Pulmonary embolism [RCV001779981]	Chr1:172987296..174843232 [GRCh38] Chr1:1q24.3-25.1	pathogenic
GRCh37/hg19 1q25.1(chr1:173750496-174538509)	copy number gain	not specified [RCV002053747]	Chr1:1q25.1	uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	copy number loss	not specified [RCV002053736]	Chr1:1q24.3-31.3	pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	copy number loss	not specified [RCV002053713]	Chr1:1q24.2-25.3	pathogenic
GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	copy number loss	not specified [RCV002053725]	Chr1:1q24.3-25.1	pathogenic
NM_005684.5(GPR52):c.13A>G (p.Arg5Gly)	single nucleotide variant	not specified [RCV004137840]	Chr1:174448124 [GRCh38] Chr1:174417262 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.416G>A (p.Arg139His)	single nucleotide variant	not specified [RCV004116739]	Chr1:174448527 [GRCh38] Chr1:174417665 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.781C>T (p.Arg261Cys)	single nucleotide variant	not specified [RCV004095181]	Chr1:174448892 [GRCh38] Chr1:174418030 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.773G>T (p.Ser258Ile)	single nucleotide variant	not specified [RCV004109360]	Chr1:174448884 [GRCh38] Chr1:174418022 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.446A>G (p.Tyr149Cys)	single nucleotide variant	not specified [RCV005578569]	Chr1:174448557 [GRCh38] Chr1:174417695 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.1043A>G (p.Gln348Arg)	single nucleotide variant	not specified [RCV006432782]	Chr1:174449154 [GRCh38] Chr1:174418292 [GRCh37] Chr1:1q25.1	likely benign
GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3	copy number gain	not provided [RCV006437703]	Chr1:1q21.1-44	pathogenic
NM_005684.5(GPR52):c.974G>A (p.Arg325Gln)	single nucleotide variant	not specified [RCV006432779]	Chr1:174449085 [GRCh38] Chr1:174418223 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.97C>G (p.His33Asp)	single nucleotide variant	not specified [RCV006432780]	Chr1:174448208 [GRCh38] Chr1:174417346 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.403A>C (p.Ile135Leu)	single nucleotide variant	not specified [RCV005846038]	Chr1:174448514 [GRCh38] Chr1:174417652 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.358A>G (p.Ile120Val)	single nucleotide variant	not specified [RCV005846040]	Chr1:174448469 [GRCh38] Chr1:174417607 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.762G>T (p.Glu254Asp)	single nucleotide variant	not specified [RCV005846039]	Chr1:174448873 [GRCh38] Chr1:174418011 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.467G>C (p.Cys156Ser)	single nucleotide variant	not specified [RCV005578573]	Chr1:174448578 [GRCh38] Chr1:174417716 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.749A>C (p.Asp250Ala)	single nucleotide variant	not specified [RCV006432781]	Chr1:174448860 [GRCh38] Chr1:174417998 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.584C>T (p.Thr195Met)	single nucleotide variant	not specified [RCV006432778]	Chr1:174448695 [GRCh38] Chr1:174417833 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.1006T>A (p.Cys336Ser)	single nucleotide variant	not specified [RCV005578570]	Chr1:174449117 [GRCh38] Chr1:174418255 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.640C>G (p.Pro214Ala)	single nucleotide variant	not specified [RCV005578572]	Chr1:174448751 [GRCh38] Chr1:174417889 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.1012T>C (p.Ser338Pro)	single nucleotide variant	not specified [RCV005852346]	Chr1:174449123 [GRCh38] Chr1:174418261 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.474G>C (p.Leu158Phe)	single nucleotide variant	not specified [RCV004355702]	Chr1:174448585 [GRCh38] Chr1:174417723 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.817G>T (p.Val273Leu)	single nucleotide variant	not specified [RCV005846037]	Chr1:174448928 [GRCh38] Chr1:174418066 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.470G>C (p.Arg157Pro)	single nucleotide variant	not specified [RCV005852345]	Chr1:174448581 [GRCh38] Chr1:174417719 [GRCh37] Chr1:1q25.1	uncertain significance
GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	copy number loss	not provided [RCV003483966]	Chr1:1q23.3-25.1	pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	copy number gain	not specified [RCV003986506]	Chr1:1q25.1-25.3	pathogenic
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	copy number loss	not specified [RCV003987250]	Chr1:1q24.2-31.1	pathogenic
NM_005684.5(GPR52):c.1001C>A (p.Thr334Lys)	single nucleotide variant	not specified [RCV004391125]	Chr1:174449112 [GRCh38] Chr1:174418250 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.368T>C (p.Val123Ala)	single nucleotide variant	not specified [RCV004391127]	Chr1:174448479 [GRCh38] Chr1:174417617 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.233A>G (p.Tyr78Cys)	single nucleotide variant	not specified [RCV004623998]	Chr1:174448344 [GRCh38] Chr1:174417482 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.367G>T (p.Val123Phe)	single nucleotide variant	not specified [RCV004922451]	Chr1:174448478 [GRCh38] Chr1:174417616 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.142G>A (p.Val48Met)	single nucleotide variant	not specified [RCV004922455]	Chr1:174448253 [GRCh38] Chr1:174417391 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.1012T>A (p.Ser338Thr)	single nucleotide variant	not specified [RCV005351501]	Chr1:174449123 [GRCh38] Chr1:174418261 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.790G>A (p.Ala264Thr)	single nucleotide variant	not specified [RCV005351500]	Chr1:174448901 [GRCh38] Chr1:174418039 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.784C>T (p.Arg262Cys)	single nucleotide variant	not specified [RCV005852347]	Chr1:174448895 [GRCh38] Chr1:174418033 [GRCh37] Chr1:1q25.1	uncertain significance
GRCh38/hg38 1q21.1-25.3(chr1:143550435-185515177)x3	copy number gain	See cases [RCV006699099]	Chr1:1q21.1-25.3	pathogenic
NM_005684.5(GPR52):c.973C>T (p.Arg325Trp)	single nucleotide variant	not specified [RCV004922454]	Chr1:174449084 [GRCh38] Chr1:174418222 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.941G>A (p.Cys314Tyr)	single nucleotide variant	not specified [RCV006675829]	Chr1:174449052 [GRCh38] Chr1:174418190 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.773G>A (p.Ser258Asn)	single nucleotide variant	not specified [RCV004391129]	Chr1:174448884 [GRCh38] Chr1:174418022 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.509G>C (p.Cys170Ser)	single nucleotide variant	not specified [RCV004391128]	Chr1:174448620 [GRCh38] Chr1:174417758 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.250G>C (p.Ala84Pro)	single nucleotide variant	not specified [RCV004391126]	Chr1:174448361 [GRCh38] Chr1:174417499 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.14G>A (p.Arg5Lys)	single nucleotide variant	not specified [RCV004632518]	Chr1:174448125 [GRCh38] Chr1:174417263 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.890C>G (p.Thr297Ser)	single nucleotide variant	not specified [RCV004632519]	Chr1:174449001 [GRCh38] Chr1:174418139 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.1081A>G (p.Ile361Val)	single nucleotide variant	not specified [RCV004922452]	Chr1:174449192 [GRCh38] Chr1:174418330 [GRCh37] Chr1:1q25.1	uncertain significance
NM_005684.5(GPR52):c.136G>A (p.Val46Ile)	single nucleotide variant	not specified [RCV004922453]	Chr1:174448247 [GRCh38] Chr1:174417385 [GRCh37] Chr1:1q25.1	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	133
Count of miRNA genes:	123
Interacting mature miRNAs:	133
Transcripts:	ENST00000367685
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
628644153	GWAS2552382_H	hospitalisation, psychiatric disorder QTL GWAS2552382 (human)		0.000001	hospitalisation, psychiatric disorder		1	174448037	174448038	Human
628644862	GWAS2553091_H	hospitalisation, psychiatric disorder QTL GWAS2553091 (human)		0.0000007	hospitalisation, psychiatric disorder		1	174448037	174448038	Human

Markers in Region

SHGC-75884

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	174,415,356 - 174,415,449	UniSTS	GRCh37
Build 36	1	172,681,979 - 172,682,072	RGD	NCBI36
Celera	1	147,524,746 - 147,524,839	RGD
Cytogenetic Map	1	q24	UniSTS
HuRef	1	145,640,995 - 145,641,088	UniSTS
GeneMap99-GB4 RH Map	1	618.68	UniSTS

UniSTS:480957

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	174,417,250 - 174,418,335	UniSTS	GRCh37
Celera	1	147,526,640 - 147,527,725	UniSTS
HuRef	1	145,642,889 - 145,643,974	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
825	1537	1890	1438	4072	1171	1594	3	375	1357	247	1707	4315	4192	44	3272	464	1288	1181	136

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_005684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF096784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL022171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC067456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC067457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC067458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC067459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC067460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC095532	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA174341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB168074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HQ995526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000367685 ⟹ ENSP00000356658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	174,447,964 - 174,449,545 (+)	Ensembl

RefSeq Acc Id:

NM_005684 ⟹ NP_005675

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	174,447,964 - 174,449,545 (+)	NCBI
GRCh37	1	174,417,212 - 174,418,683 (+)	RGD
Build 36	1	172,683,835 - 172,685,306 (+)	NCBI Archive
Celera	1	147,526,602 - 147,528,073 (+)	RGD
HuRef	1	145,642,851 - 145,644,322 (+)	ENTREZGENE
CHM1_1	1	175,839,796 - 175,841,267 (+)	NCBI
T2T-CHM13v2.0	1	173,805,945 - 173,807,526 (+)	NCBI

Sequence:

show sequence

ACTCTCTGGGACTCTCAGCTGTGACAGAAGCACTGACACTGTCTACTGAAGCAGGTTCTGAAAC
ACTCATGTGCGGTGTTTAACAGATGCTGGGCAGGGCATCTGCTTGCTGTAGCCAAGTCTGCAGG
TGTCTTTAAATTTCCAAGCCATGAATGAATCCAGGTGGACTGAATGGAGGATCCTGAACATGAG
CAGTGGCATTGTGAATGTGTCCGAGCGTCACTCCTGCCCACTTGGATTTGGCCACTACAGTGTG
GTGGATGTCTGCATCTTCGAGACAGTGGTTATTGTGTTGCTGACATTTCTGATCATTGCTGGGA
ATCTAACAGTTATCTTTGTCTTTCATTGTGCTCCACTGTTACATCATTATACTACCAGCTATTT
CATTCAGACGATGGCATATGCTGATCTTTTCGTTGGAGTTAGCTGCTTGGTTCCTACTCTGTCA
CTTCTCCACTACTCCACAGGTGTCCACGAGTCATTGACTTGCCAGGTTTTTGGATATATCATCT
CAGTTCTAAAAAGTGTTTCTATGGCATGTCTTGCTTGCATCAGTGTGGATCGTTATCTTGCAAT
AACCAAGCCTCTTTCCTACAATCAACTGGTCACCCCTTGTCGCTTGAGAATTTGCATTATTTTG
ATCTGGATCTACTCCTGCCTAATTTTCTTGCCTTCCTTTTTTGGCTGGGGGAAACCTGGTTACC
ATGGTGACATTTTTGAATGGTGTGCCACGTCTTGGCTCACCAGTGCCTATTTTACTGGCTTTAT
TGTTTGTTTACTTTATGCTCCTGCTGCCTTTGTTGTCTGCTTCACTTACTTCCACATTTTCAAA
ATTTGCCGTCAGCACACCAAAGAGATAAATGACCGAAGAGCCCGATTCCCTAGTCATGAGGTAG
ATTCTTCCAGAGAGACTGGACACAGCCCTGACCGTCGCTACGCCATGGTTTTGTTTAGGATAAC
CAGTGTATTTTATATGCTGTGGCTCCCCTATATAATTTACTTTCTTCTAGAAAGCTCCCGGGTC
TTGGACAATCCAACTCTGTCCTTCTTAACAACCTGGCTTGCAATAAGTAATAGTTTTTGTAACT
GTGTAATATACAGCCTCTCCAACAGCGTTTTCCGGCTAGGCCTCCGAAGACTGTCTGAGACAAT
GTGCACATCCTGTATGTGTGTGAAGGATCAGGAAGCACAAGAACCCAAACCTAGGAAACGGGCT
AATTCTTGCTCCATTTGAAGAGAGCTACATAGTAAATCAAATGTAATCTGACAGTGGTTTTGGA
TCATATTCTAGATTCATCTGGAAATTTGCCATCAGAGAAATATTTACTTGAATAGTTGACTGTA
AAATGAAGTATGAGACTAAAGGTTTCTCTCTTTTTTTTTCTTTTTCATGGAAGAAACTAAAGGG
AAGGATGTATAGAGGGTTAGCTCATGAAATAATTATAGCATGTGAGTATTAGTGTGCAGTAATA
GGAAAAATTAAGCACTGAGATGAAAAAGAATATCTCAAATCTTCTGCAGGACATGAGCAAGCCC
CTTGGCTCAGCATTTCTGTCTTTCTGTCTGACTGTACCCTGCCTCT

hide sequence

Protein Sequences


Protein RefSeqs	NP_005675	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD22409	(Get FASTA)	NCBI Sequence Viewer
	AAH67456	(Get FASTA)	NCBI Sequence Viewer
	AAH67457	(Get FASTA)	NCBI Sequence Viewer
	AAH67458	(Get FASTA)	NCBI Sequence Viewer
	AAH67459	(Get FASTA)	NCBI Sequence Viewer
	AAH67460	(Get FASTA)	NCBI Sequence Viewer
	AAH69460	(Get FASTA)	NCBI Sequence Viewer
	AAH95532	(Get FASTA)	NCBI Sequence Viewer
	ADZ31971	(Get FASTA)	NCBI Sequence Viewer
	EAW90976	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000356658
	ENSP00000356658.2
GenBank Protein	Q9Y2T5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_005675 ⟸ NM_005684

- UniProtKB:

Q4VBL6 (UniProtKB/Swiss-Prot), O75654 (UniProtKB/Swiss-Prot), Q6ISM0 (UniProtKB/Swiss-Prot), Q9Y2T5 (UniProtKB/Swiss-Prot), F2YGU0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MNESRWTEWRILNMSSGIVNVSERHSCPLGFGHYSVVDVCIFETVVIVLLTFLIIAGNLTVIFV
FHCAPLLHHYTTSYFIQTMAYADLFVGVSCLVPTLSLLHYSTGVHESLTCQVFGYIISVLKSVS
MACLACISVDRYLAITKPLSYNQLVTPCRLRICIILIWIYSCLIFLPSFFGWGKPGYHGDIFEW
CATSWLTSAYFTGFIVCLLYAPAAFVVCFTYFHIFKICRQHTKEINDRRARFPSHEVDSSRETG
HSPDRRYAMVLFRITSVFYMLWLPYIIYFLLESSRVLDNPTLSFLTTWLAISNSFCNCVIYSLS
NSVFRLGLRRLSETMCTSCMCVKDQEAQEPKPRKRANSCSI

hide sequence

Ensembl Acc Id:

ENSP00000356658 ⟸ ENST00000367685

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y2T5-F1-model_v2	AlphaFold	Q9Y2T5	1-361	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4508	AgrOrtholog
COSMIC	GPR52	COSMIC
Ensembl Genes	ENSG00000203737	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000367685	ENTREZGENE
	ENST00000367685.5	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot
GTEx	ENSG00000203737	GTEx
HGNC ID	HGNC:4508	ENTREZGENE
Human Proteome Map	GPR52	Human Proteome Map
InterPro	GPCR_opsins	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot
KEGG Report	hsa:9293	UniProtKB/Swiss-Prot
NCBI Gene	9293	ENTREZGENE
OMIM	604106	OMIM
PANTHER	OPSIN	UniProtKB/Swiss-Prot
Pfam	7tm_1	UniProtKB/Swiss-Prot
PharmGKB	PA28897	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot
PROSITE	G_PROTEIN_RECEP_F1_1	UniProtKB/Swiss-Prot
	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot
UniProt	F2YGU0	ENTREZGENE, UniProtKB/TrEMBL
	GPR52_HUMAN	UniProtKB/Swiss-Prot
	O75654	ENTREZGENE
	Q4VBL6	ENTREZGENE
	Q6ISM0	ENTREZGENE
	Q9Y2T5	ENTREZGENE
UniProt Secondary	O75654	UniProtKB/Swiss-Prot
	Q4VBL6	UniProtKB/Swiss-Prot
	Q6ISM0	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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