GPR20 (G protein-coupled receptor 20) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GPR20 (G protein-coupled receptor 20) Homo sapiens
Analyze
Symbol: GPR20
Name: G protein-coupled receptor 20
RGD ID: 733771
HGNC Page HGNC
Description: Exhibits G protein-coupled receptor activity. Predicted to be involved in positive regulation of Rho protein signal transduction and positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway. Localizes to cytosol; integral component of plasma membrane; and receptor complex; INTERACTS WITH amphotericin B; benzo[a]pyrene; butanal.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CTD-3064M3.3; G-protein coupled receptor 20
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
GRCh38.p13 Ensembl8141,356,470 - 141,367,286 (-)EnsemblGRCh38hg38GRCh38
GRCh388141,356,470 - 141,367,286 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378142,366,570 - 142,377,386 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368142,435,767 - 142,446,547 (-)NCBINCBI36hg18NCBI36
Build 348142,436,128 - 142,437,205NCBI
Celera8138,534,610 - 138,545,390 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8137,677,384 - 137,688,164 (-)NCBIHuRef
CHM1_18142,406,651 - 142,417,431 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9073069   PMID:12477932   PMID:18347022   PMID:21873635   PMID:21926972   PMID:21988832   PMID:23382219  


Genomics

Comparative Map Data
GPR20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8141,356,470 - 141,367,286 (-)EnsemblGRCh38hg38GRCh38
GRCh388141,356,470 - 141,367,286 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378142,366,570 - 142,377,386 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368142,435,767 - 142,446,547 (-)NCBINCBI36hg18NCBI36
Build 348142,436,128 - 142,437,205NCBI
Celera8138,534,610 - 138,545,390 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8137,677,384 - 137,688,164 (-)NCBIHuRef
CHM1_18142,406,651 - 142,417,431 (-)NCBICHM1_1
Gpr20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391573,560,346 - 73,579,354 (-)NCBIGRCm39mm39
GRCm39 Ensembl1573,566,453 - 73,579,354 (-)Ensembl
GRCm381573,688,497 - 73,707,505 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1573,694,604 - 73,707,505 (-)EnsemblGRCm38mm10GRCm38
MGSCv371573,525,037 - 73,537,935 (-)NCBIGRCm37mm9NCBIm37
MGSCv361573,521,862 - 73,534,760 (-)NCBImm8
Celera1575,200,869 - 75,213,649 (-)NCBICelera
Cytogenetic Map15D3NCBI
Gpr20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27105,601,761 - 105,611,959 (-)NCBI
Rnor_6.0 Ensembl7114,944,282 - 114,945,344 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07114,943,675 - 114,953,977 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07114,865,346 - 114,875,413 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47111,405,379 - 111,406,441 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17111,439,608 - 111,440,671 (-)NCBI
Celera7102,009,987 - 102,011,049 (-)NCBICelera
Cytogenetic Map7q34NCBI
Gpr20
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955454379,024 - 380,100 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955454379,024 - 380,100 (-)NCBIChiLan1.0ChiLan1.0
GPR20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18141,105,479 - 141,119,209 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8141,108,910 - 141,109,986 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08138,024,139 - 138,037,886 (-)NCBIMhudiblu_PPA_v0panPan3
GPR20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11335,820,979 - 35,835,553 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1335,682,392 - 35,694,568 (-)NCBI
ROS_Cfam_1.01336,208,986 - 36,221,100 (-)NCBI
UMICH_Zoey_3.11335,929,133 - 35,941,301 (-)NCBI
UNSW_CanFamBas_1.01336,018,881 - 36,031,076 (-)NCBI
UU_Cfam_GSD_1.01336,439,287 - 36,451,461 (-)NCBI
Gpr20
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053032,675,848 - 2,676,936 (+)NCBI
SpeTri2.0NW_00493647010,101,950 - 10,103,020 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPR20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl42,404,291 - 2,408,812 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.142,395,295 - 2,408,828 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,902,150 - 1,919,561 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GPR20
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18135,593,457 - 135,604,594 (-)NCBI
ChlSab1.1 Ensembl8135,593,960 - 135,595,039 (-)Ensembl
Gpr20
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473515,025,245 - 15,029,286 (+)NCBI

Position Markers
RH71251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378142,366,997 - 142,367,139UniSTSGRCh37
Build 368142,436,179 - 142,436,321RGDNCBI36
Celera8138,535,022 - 138,535,164RGD
Cytogenetic Map8q24.3UniSTS
HuRef8137,677,796 - 137,677,938UniSTS
GeneMap99-GB4 RH Map8543.99UniSTS
NCBI RH Map81602.4UniSTS
UniSTS:486971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378142,366,855 - 142,368,116UniSTSGRCh37
Celera8138,534,880 - 138,536,141UniSTS
HuRef8137,677,654 - 137,678,915UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:203
Count of miRNA genes:189
Interacting mature miRNAs:196
Transcripts:ENST00000377741
Prediction methods:Miranda, Rnahybrid
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.


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 pharyngeal arch
High
Medium 43 264 2 1 13 1 196 11 1 1 30 2 3 195
Low 2210 1710 762 110 341 68 2860 1295 868 162 944 1268 52 1 1032 1681 3 1
Below cutoff 126 705 819 411 690 297 1210 850 2382 188 428 251 117 167 895 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000377741   ⟹   ENSP00000366970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8141,356,470 - 141,367,286 (-)Ensembl
RefSeq Acc Id: NM_005293   ⟹   NP_005284
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,356,470 - 141,367,286 (-)NCBI
GRCh378142,366,585 - 142,377,365 (-)RGD
Build 368142,435,767 - 142,446,547 (-)NCBI Archive
Celera8138,534,610 - 138,545,390 (-)RGD
HuRef8137,677,384 - 137,688,164 (-)RGD
CHM1_18142,406,651 - 142,417,431 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005284   ⟸   NM_005293
- UniProtKB: Q99678 (UniProtKB/Swiss-Prot),   Q59GP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000366970   ⟸   ENST00000377741
Protein Domains
G_PROTEIN_RECEP_F1_2

Promoters
RGD ID:6806782
Promoter ID:HG_KWN:62211
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000377741
Position:
Human AssemblyChrPosition (strand)Source
Build 368142,446,206 - 142,446,706 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141131265-142117372)x3 copy number gain See cases [RCV000052186] Chr8:141131265..142117372 [GRCh38]
Chr8:142141364..143198733 [GRCh37]
Chr8:142210546..143196640 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_005293.2(GPR20):c.1041C>T (p.Ala347=) single nucleotide variant Malignant melanoma [RCV000068184] Chr8:141356883 [GRCh38]
Chr8:142366983 [GRCh37]
Chr8:142436165 [NCBI36]
Chr8:8q24.3
not provided
NM_005293.2(GPR20):c.1040C>T (p.Ala347Val) single nucleotide variant Malignant melanoma [RCV000068185] Chr8:141356884 [GRCh38]
Chr8:142366984 [GRCh37]
Chr8:142436166 [NCBI36]
Chr8:8q24.3
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141850516-143511413)x3 copy number gain See cases [RCV000512275] Chr8:141850516..143511413 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005293.3(GPR20):c.1038C>T (p.His346=) single nucleotide variant not provided [RCV000962934] Chr8:141356886 [GRCh38]
Chr8:142366986 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4475 AgrOrtholog
COSMIC GPR20 COSMIC
Ensembl Genes ENSG00000204882 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000275181 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000366970 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479665 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377741 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613887 UniProtKB/Swiss-Prot
GTEx ENSG00000204882 GTEx
  ENSG00000275181 GTEx
HGNC ID HGNC:4475 ENTREZGENE
Human Proteome Map GPR20 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2843 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2843 ENTREZGENE
OMIM 601908 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28863 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt GPR20_HUMAN UniProtKB/Swiss-Prot
  Q59GP3 ENTREZGENE, UniProtKB/TrEMBL
  Q99678 ENTREZGENE
UniProt Secondary Q17R96 UniProtKB/Swiss-Prot