GPRC5A (G protein-coupled receptor class C group 5 member A) - Rat Genome Database

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Gene: GPRC5A (G protein-coupled receptor class C group 5 member A) Homo sapiens
Analyze
Symbol: GPRC5A
Name: G protein-coupled receptor class C group 5 member A
RGD ID: 1603705
HGNC Page HGNC:9836
Description: Enables cadherin binding activity. Predicted to be involved in signal transduction. Located in nucleolus; plasma membrane; and vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: G protein-coupled receptor, class C, group 5, member A; G protein-coupled receptor, family C, group 5, member A; G-protein coupled receptor family C group 5 member A; GPCR5A; orphan G-protein-coupling receptor PEIG-1; PEIG-1; phorbol ester induced gene 1; phorbol ester induced protein-1; RAI3; RAIG-1; RAIG1; retinoic acid induced 3; retinoic acid responsive; retinoic acid-induced gene 1 protein; retinoic acid-induced protein 3; TIG1; TPA induced gene 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381212,891,562 - 12,917,937 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1212,890,782 - 12,917,937 (+)EnsemblGRCh38hg38GRCh38
GRCh371213,044,496 - 13,070,871 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361212,935,223 - 12,957,867 (+)NCBINCBI36Build 36hg18NCBI36
Celera1218,192,808 - 18,215,452 (+)NCBICelera
Cytogenetic Map12p13.1NCBI
HuRef1212,813,598 - 12,836,110 (+)NCBIHuRef
CHM1_11213,009,322 - 13,031,947 (+)NCBICHM1_1
T2T-CHM13v2.01212,765,164 - 12,791,546 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
7,12-dimethyltetraphene  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium sulfate  (EXP)
carbon nanotube  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ferroheme b  (ISO)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glycidol  (ISO)
Heliotrine  (EXP)
heme b  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
ivermectin  (EXP)
lipopolysaccharide  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
methotrexate  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
Salinomycin  (EXP)
SB 431542  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8832110   PMID:9857033   PMID:10783259   PMID:10945465   PMID:12477932   PMID:14702039   PMID:14706456   PMID:15489334   PMID:15659406   PMID:15951569   PMID:16565220   PMID:17055459  
PMID:18000218   PMID:18029348   PMID:19056867   PMID:19199708   PMID:19279407   PMID:19552806   PMID:20360068   PMID:20563252   PMID:21873635   PMID:22939629   PMID:23154545   PMID:23376485  
PMID:23533145   PMID:23632812   PMID:24470238   PMID:24984703   PMID:25311788   PMID:25468996   PMID:25744720   PMID:26227221   PMID:26496610   PMID:26618866   PMID:26638075   PMID:27273304  
PMID:27387124   PMID:27415424   PMID:27599526   PMID:27715394   PMID:28114355   PMID:28316092   PMID:28653505   PMID:28849235   PMID:28870805   PMID:29117863   PMID:29283424   PMID:29509190  
PMID:29635000   PMID:29636387   PMID:29949874   PMID:30021884   PMID:30639242   PMID:30707896   PMID:30745168   PMID:30901718   PMID:31115523   PMID:31276604   PMID:31324722   PMID:31536960  
PMID:31586073   PMID:31871319   PMID:32014253   PMID:32115889   PMID:32157214   PMID:32410473   PMID:32687490   PMID:32719397   PMID:32758941   PMID:32780723   PMID:33144569   PMID:33194618  
PMID:33545068   PMID:33788883   PMID:33961781   PMID:34079125   PMID:34350749   PMID:35198878   PMID:35559673   PMID:35676659   PMID:35696571   PMID:35844135   PMID:35941108   PMID:36526897  
PMID:36781501   PMID:37232246   PMID:37467514   PMID:37689310   PMID:38448858   PMID:38496616  


Genomics

Comparative Map Data
GPRC5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381212,891,562 - 12,917,937 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1212,890,782 - 12,917,937 (+)EnsemblGRCh38hg38GRCh38
GRCh371213,044,496 - 13,070,871 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361212,935,223 - 12,957,867 (+)NCBINCBI36Build 36hg18NCBI36
Celera1218,192,808 - 18,215,452 (+)NCBICelera
Cytogenetic Map12p13.1NCBI
HuRef1212,813,598 - 12,836,110 (+)NCBIHuRef
CHM1_11213,009,322 - 13,031,947 (+)NCBICHM1_1
T2T-CHM13v2.01212,765,164 - 12,791,546 (+)NCBIT2T-CHM13v2.0
Gprc5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396135,042,660 - 135,061,707 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6135,042,649 - 135,061,707 (+)EnsemblGRCm39 Ensembl
GRCm386135,065,662 - 135,084,709 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6135,065,651 - 135,084,709 (+)EnsemblGRCm38mm10GRCm38
MGSCv376135,015,680 - 135,034,727 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366135,031,380 - 135,050,396 (+)NCBIMGSCv36mm8
Celera6138,021,758 - 138,040,849 (+)NCBICelera
Cytogenetic Map6G1NCBI
cM Map665.83NCBI
Gprc5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84169,634,896 - 169,653,627 (+)NCBIGRCr8
mRatBN7.24167,903,542 - 167,922,276 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4167,903,542 - 167,922,260 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4174,198,776 - 174,217,507 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04169,980,000 - 169,998,731 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04168,604,005 - 168,622,716 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04168,832,937 - 168,851,650 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4168,832,910 - 168,851,652 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04233,105,139 - 233,123,586 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44171,987,364 - 172,006,276 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14172,232,300 - 172,251,197 (+)NCBI
Celera4156,499,535 - 156,518,603 (+)NCBICelera
Cytogenetic Map4q43NCBI
Gprc5a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554139,765,564 - 9,785,856 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554139,765,564 - 9,784,847 (+)NCBIChiLan1.0ChiLan1.0
GPRC5A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21018,349,864 - 18,372,499 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11218,346,629 - 18,369,246 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01212,905,682 - 12,928,596 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11213,282,865 - 13,309,963 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1213,282,865 - 13,305,727 (+)Ensemblpanpan1.1panPan2
GPRC5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12733,438,196 - 33,460,062 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2733,441,527 - 33,460,377 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2712,984,918 - 13,006,546 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02733,744,328 - 33,766,173 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2733,744,346 - 33,765,886 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12733,638,581 - 33,660,431 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02733,588,704 - 33,610,563 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02712,719,586 - 12,741,585 (+)NCBIUU_Cfam_GSD_1.0
Gprc5a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494594,699,562 - 94,715,710 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365874,427,189 - 4,443,351 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365874,427,208 - 4,443,302 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPRC5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl559,565,799 - 59,586,600 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1559,565,793 - 59,586,641 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GPRC5A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11112,800,517 - 12,820,861 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1112,816,729 - 12,820,805 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606922,498,236 - 22,519,706 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gprc5a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475225,061,379 - 25,065,560 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475225,061,475 - 25,077,029 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GPRC5A
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1 copy number loss See cases [RCV000050816] Chr12:11771233..13547775 [GRCh38]
Chr12:11924167..13700709 [GRCh37]
Chr12:11815434..13591976 [NCBI36]
Chr12:12p13.2-13.1		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1 copy number loss See cases [RCV000052780] Chr12:12388842..15540422 [GRCh38]
Chr12:12541776..15693356 [GRCh37]
Chr12:12433043..15584623 [NCBI36]
Chr12:12p13.2-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1 copy number loss See cases [RCV000135331] Chr12:12363649..15280588 [GRCh38]
Chr12:12514722..15433522 [GRCh37]
Chr12:12405989..15324789 [NCBI36]
Chr12:12p13.2-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 copy number loss See cases [RCV000142882] Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3 copy number gain Breast ductal adenocarcinoma [RCV000207111] Chr12:12419642..13256423 [GRCh37]
Chr12:12p13.2-13.1		 uncertain significance
chr12:10074776-18800953 complex variant complex Breast ductal adenocarcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_003979.4(GPRC5A):c.275G>C (p.Ser92Thr) single nucleotide variant Inborn genetic diseases [RCV003249348] Chr12:12908524 [GRCh38]
Chr12:13061458 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1 copy number loss not provided [RCV000683470] Chr12:10717428..14032860 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NC_000012.12:g.(?_12717002)_(13982130_?)dup duplication Intellectual disability, autosomal dominant 6 [RCV001032122] Chr12:12869936..14135064 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349) copy number loss Multiple endocrine neoplasia type 4 [RCV000767604] Chr12:10336209..13535349 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
NM_003979.4(GPRC5A):c.693C>T (p.Leu231=) single nucleotide variant not provided [RCV000896410] Chr12:12908942 [GRCh38]
Chr12:13061876 [GRCh37]
Chr12:12p13.1		 likely benign
NM_003979.4(GPRC5A):c.99G>A (p.Thr33=) single nucleotide variant not provided [RCV000896658] Chr12:12908348 [GRCh38]
Chr12:13061282 [GRCh37]
Chr12:12p13.1		 likely benign
NC_000012.12:g.(?_12717002)_(13982130_?)del deletion Intellectual disability, autosomal dominant 6 [RCV001032132] Chr12:12869936..14135064 [GRCh37]
Chr12:12p13.1		 pathogenic
NM_003979.4(GPRC5A):c.71C>G (p.Ala24Gly) single nucleotide variant not provided [RCV000962243] Chr12:12908320 [GRCh38]
Chr12:13061254 [GRCh37]
Chr12:12p13.1		 benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1 copy number loss not provided [RCV001006482] Chr12:11737824..16780886 [GRCh37]
Chr12:12p13.2-12.3		 pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142) copy number loss Intellectual disability [RCV003320282] Chr12:11463270..14019142 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
NC_000012.11:g.(?_12869936)_(14135064_?)dup duplication Mental retardation, autosomal dominant 6 [RCV001327933] Chr12:12869936..14135064 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.815G>A (p.Arg272Gln) single nucleotide variant Inborn genetic diseases [RCV003252564] Chr12:12909064 [GRCh38]
Chr12:13061998 [GRCh37]
Chr12:12p13.1		 likely benign
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.11:g.(?_11803062)_(15835885_?)dup duplication Intellectual disability, autosomal dominant 6 [RCV001931714]|not provided [RCV001946435] Chr12:11803062..15835885 [GRCh37]
Chr12:12p13.2-12.3		 uncertain significance|no classifications from unflagged records
NM_003979.4(GPRC5A):c.742G>A (p.Ala248Thr) single nucleotide variant Inborn genetic diseases [RCV002759465] Chr12:12908991 [GRCh38]
Chr12:13061925 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.755A>G (p.Asn252Ser) single nucleotide variant Inborn genetic diseases [RCV002788939] Chr12:12909004 [GRCh38]
Chr12:13061938 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.245C>T (p.Thr82Ile) single nucleotide variant Inborn genetic diseases [RCV002675354] Chr12:12908494 [GRCh38]
Chr12:13061428 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.173A>G (p.Asp58Gly) single nucleotide variant Inborn genetic diseases [RCV002832035] Chr12:12908422 [GRCh38]
Chr12:13061356 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.137T>C (p.Met46Thr) single nucleotide variant Inborn genetic diseases [RCV002988955] Chr12:12908386 [GRCh38]
Chr12:13061320 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_003979.4(GPRC5A):c.520A>T (p.Asn174Tyr) single nucleotide variant Inborn genetic diseases [RCV003202674] Chr12:12908769 [GRCh38]
Chr12:13061703 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.1067G>A (p.Gly356Asp) single nucleotide variant Inborn genetic diseases [RCV003179184] Chr12:12912532 [GRCh38]
Chr12:13065466 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.932A>G (p.Glu311Gly) single nucleotide variant Inborn genetic diseases [RCV003181331] Chr12:12912093 [GRCh38]
Chr12:13065027 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.112G>A (p.Gly38Arg) single nucleotide variant Inborn genetic diseases [RCV003178747] Chr12:12908361 [GRCh38]
Chr12:13061295 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.520A>C (p.Asn174His) single nucleotide variant Inborn genetic diseases [RCV003264719] Chr12:12908769 [GRCh38]
Chr12:13061703 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_003979.4(GPRC5A):c.763G>A (p.Val255Met) single nucleotide variant Inborn genetic diseases [RCV003354178] Chr12:12909012 [GRCh38]
Chr12:13061946 [GRCh37]
Chr12:12p13.1		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_003979.4(GPRC5A):c.544A>G (p.Thr182Ala) single nucleotide variant not provided [RCV003396246] Chr12:12908793 [GRCh38]
Chr12:13061727 [GRCh37]
Chr12:12p13.1		 likely benign
NM_003979.4(GPRC5A):c.258C>T (p.Ile86=) single nucleotide variant not provided [RCV003396245] Chr12:12908507 [GRCh38]
Chr12:13061441 [GRCh37]
Chr12:12p13.1		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3388
Count of miRNA genes:1235
Interacting mature miRNAs:1571
Transcripts:ENST00000014914, ENST00000534831, ENST00000537783, ENST00000540125, ENST00000542056
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.

Markers in Region
RH99002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,066,318 - 13,066,476UniSTSGRCh37
Build 361212,957,585 - 12,957,743RGDNCBI36
Celera1218,215,170 - 18,215,328RGD
Cytogenetic Map12p13-p12.3UniSTS
HuRef1212,835,828 - 12,835,986UniSTS
GeneMap99-GB4 RH Map1264.61UniSTS
D12S2123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,054,508 - 13,054,650UniSTSGRCh37
Build 361212,945,775 - 12,945,917RGDNCBI36
Celera1218,203,360 - 18,203,502RGD
Cytogenetic Map12p13-p12.3UniSTS
HuRef1212,824,018 - 12,824,160UniSTS
GeneMap99-G3 RH Map12737.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 2 2 3 3 4
Medium 911 1175 752 152 108 23 1177 143 102 131 720 1511 141 657 753 1
Low 1499 962 580 130 491 101 2468 1208 1330 253 698 51 31 547 1429 3
Below cutoff 26 823 347 295 1173 295 709 838 2266 32 32 43 1 1 605

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF095448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF506289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI587426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE519991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000014914   ⟹   ENSP00000014914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,891,562 - 12,917,937 (+)Ensembl
RefSeq Acc Id: ENST00000534831   ⟹   ENSP00000441627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,891,974 - 12,909,070 (+)Ensembl
RefSeq Acc Id: ENST00000537783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,891,559 - 12,909,876 (+)Ensembl
RefSeq Acc Id: ENST00000540125   ⟹   ENSP00000439430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,909,069 - 12,912,509 (+)Ensembl
RefSeq Acc Id: ENST00000542056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,891,579 - 12,913,133 (+)Ensembl
RefSeq Acc Id: ENST00000648791   ⟹   ENSP00000497831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,908,244 - 12,913,411 (+)Ensembl
RefSeq Acc Id: ENST00000713574   ⟹   ENSP00000518866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,890,782 - 12,913,632 (+)Ensembl
RefSeq Acc Id: NM_003979   ⟹   NP_003970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,891,562 - 12,917,937 (+)NCBI
GRCh371213,043,956 - 13,066,600 (+)ENTREZGENE
Build 361212,935,223 - 12,957,867 (+)NCBI Archive
HuRef1212,813,598 - 12,836,110 (+)ENTREZGENE
CHM1_11213,009,322 - 13,031,947 (+)NCBI
T2T-CHM13v2.01212,765,164 - 12,791,546 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_003970   ⟸   NM_003979
- UniProtKB: B3KV45 (UniProtKB/Swiss-Prot),   O95357 (UniProtKB/Swiss-Prot),   Q8NFJ5 (UniProtKB/Swiss-Prot),   A8K556 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497831   ⟸   ENST00000648791
RefSeq Acc Id: ENSP00000441627   ⟸   ENST00000534831
RefSeq Acc Id: ENSP00000014914   ⟸   ENST00000014914
RefSeq Acc Id: ENSP00000439430   ⟸   ENST00000540125
RefSeq Acc Id: ENSP00000518866   ⟸   ENST00000713574
Protein Domains
G-protein coupled receptors family 3 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NFJ5-F1-model_v2 AlphaFold Q8NFJ5 1-357 view protein structure

Promoters
RGD ID:7223249
Promoter ID:EPDNEW_H17370
Type:initiation region
Name:GPRC5A_1
Description:G protein-coupled receptor class C group 5 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17369  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,891,565 - 12,891,625EPDNEW
RGD ID:6790087
Promoter ID:HG_KWN:15080
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000014914,   UC001RAZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361212,935,434 - 12,935,934 (+)MPROMDB
RGD ID:6810289
Promoter ID:HG_ACW:15913
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:GPRC5A.DAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361212,950,531 - 12,951,031 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9836 AgrOrtholog
COSMIC GPRC5A COSMIC
Ensembl Genes ENSG00000013588 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000014914 ENTREZGENE
  ENST00000014914.6 UniProtKB/Swiss-Prot
  ENST00000534831.1 UniProtKB/TrEMBL
  ENST00000540125.1 UniProtKB/TrEMBL
  ENST00000648791.1 UniProtKB/TrEMBL
GTEx ENSG00000013588 GTEx
HGNC ID HGNC:9836 ENTREZGENE
Human Proteome Map GPRC5A Human Proteome Map
InterPro GPCR_3_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9052 UniProtKB/Swiss-Prot
NCBI Gene 9052 ENTREZGENE
OMIM 604138 OMIM
PANTHER G PROTEIN COUPLED RECEPTOR, CLASS C, GROUP 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINOIC ACID-INDUCED PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34194 PharmGKB
UniProt A0A3B3ITN8_HUMAN UniProtKB/TrEMBL
  A8K556 ENTREZGENE, UniProtKB/TrEMBL
  B3KV45 ENTREZGENE
  F5GWG3_HUMAN UniProtKB/TrEMBL
  H0YFN2_HUMAN UniProtKB/TrEMBL
  O95357 ENTREZGENE
  Q8NFJ5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KV45 UniProtKB/Swiss-Prot
  O95357 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 GPRC5A  G protein-coupled receptor class C group 5 member A  GPRC5A  G protein-coupled receptor, class C, group 5, member A  Symbol and/or name change 5135510 APPROVED
2014-02-04 GPRC5A  G protein-coupled receptor, class C, group 5, member A  GPRC5A  G protein-coupled receptor, family C, group 5, member A  Symbol and/or name change 5135510 APPROVED