RGS20 (regulator of G protein signaling 20) - Rat Genome Database

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Gene: RGS20 (regulator of G protein signaling 20) Homo sapiens
Analyze
Symbol: RGS20
Name: regulator of G protein signaling 20
RGD ID: 1312560
HGNC Page HGNC:14600
Description: Predicted to enable GTPase activator activity and GTPase activity. Predicted to be involved in G protein-coupled receptor signaling pathway and regulation of G protein-coupled receptor signaling pathway. Part of trans-Golgi network.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: g(z)GAP; gz-GAP; gz-selective GTPase-activating protein; regulator of G-protein signaling 20; regulator of G-protein signaling 20 variant 2; regulator of G-protein signaling Z1; regulator of G-protein signalling 20; regulator of Gz-selective protein signaling 1; RGSZ1; ZGAP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38853,851,795 - 53,959,303 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl853,851,795 - 53,959,303 (+)EnsemblGRCh38hg38GRCh38
GRCh37854,764,355 - 54,871,863 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36854,926,921 - 55,034,416 (+)NCBINCBI36Build 36hg18NCBI36
Build 34854,926,920 - 55,034,416NCBI
Celera850,754,534 - 50,862,294 (+)NCBICelera
Cytogenetic Map8q11.23NCBI
HuRef850,231,893 - 50,339,515 (+)NCBIHuRef
CHM1_1854,816,161 - 54,923,378 (+)NCBICHM1_1
T2T-CHM13v2.0854,229,188 - 54,336,699 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9748279   PMID:9748280   PMID:10791963   PMID:11735229   PMID:11829488   PMID:11882662   PMID:12379657   PMID:12414994   PMID:12477932   PMID:12826607   PMID:14702039   PMID:14872136  
PMID:15488169   PMID:15489334   PMID:17126529   PMID:17353931   PMID:17474147   PMID:18360038   PMID:18407463   PMID:20627871   PMID:20859254   PMID:21516116   PMID:23088713   PMID:24561123  
PMID:24722188   PMID:25416956   PMID:27107014   PMID:27495875   PMID:28237701   PMID:28502923   PMID:28514442   PMID:29484420   PMID:29892012   PMID:31212130   PMID:31515488   PMID:32296183  
PMID:33961781   PMID:36949045   PMID:38496616  


Genomics

Comparative Map Data
RGS20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38853,851,795 - 53,959,303 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl853,851,795 - 53,959,303 (+)EnsemblGRCh38hg38GRCh38
GRCh37854,764,355 - 54,871,863 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36854,926,921 - 55,034,416 (+)NCBINCBI36Build 36hg18NCBI36
Build 34854,926,920 - 55,034,416NCBI
Celera850,754,534 - 50,862,294 (+)NCBICelera
Cytogenetic Map8q11.23NCBI
HuRef850,231,893 - 50,339,515 (+)NCBIHuRef
CHM1_1854,816,161 - 54,923,378 (+)NCBICHM1_1
T2T-CHM13v2.0854,229,188 - 54,336,699 (+)NCBIT2T-CHM13v2.0
Rgs20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914,976,342 - 5,140,528 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14,979,799 - 5,140,508 (-)EnsemblGRCm39 Ensembl
GRCm3814,909,573 - 5,070,299 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14,909,576 - 5,070,285 (-)EnsemblGRCm38mm10GRCm38
MGSCv3714,899,657 - 5,060,366 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614,900,326 - 5,009,967 (-)NCBIMGSCv36mm8
Celera14,920,984 - 5,081,194 (-)NCBICelera
Cytogenetic Map1A1NCBI
cM Map11.8NCBI
Rgs20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8519,282,249 - 19,412,122 (+)NCBIGRCr8
mRatBN7.2514,484,436 - 14,614,317 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl514,534,775 - 14,614,084 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx516,676,816 - 17,279,107 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0518,284,572 - 18,882,373 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0518,011,498 - 18,613,725 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0514,367,498 - 14,494,048 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl514,415,606 - 14,494,756 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0519,197,565 - 19,275,548 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4514,737,677 - 14,816,606 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera513,906,964 - 13,985,237 (+)NCBICelera
Cytogenetic Map5q12NCBI
Rgs20
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545413,238,596 - 13,304,789 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545413,271,409 - 13,305,730 (+)NCBIChiLan1.0ChiLan1.0
RGS20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2769,516,347 - 69,597,914 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1845,241,161 - 45,322,695 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0850,277,765 - 50,386,289 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1847,655,584 - 47,763,411 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl847,655,584 - 47,763,411 (+)Ensemblpanpan1.1panPan2
RGS20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1295,520,858 - 5,606,028 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl295,521,641 - 5,605,405 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha295,896,985 - 5,981,029 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0295,600,289 - 5,682,211 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl295,600,562 - 5,682,211 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1295,558,943 - 5,618,770 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0295,741,151 - 5,824,526 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0295,823,542 - 5,907,602 (+)NCBIUU_Cfam_GSD_1.0
Rgs20
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530373,919,030 - 73,990,753 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936496794,945 - 864,234 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936496794,968 - 864,714 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RGS20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl477,141,945 - 77,209,533 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1477,141,935 - 77,185,209 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2484,213,610 - 84,280,766 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RGS20
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1849,934,043 - 50,041,914 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl849,934,940 - 50,041,051 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603991,897,557 - 92,005,525 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rgs20
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247351,710,957 - 1,785,400 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RGS20
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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
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
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q11.23(chr8:53790469-54207499)x3 copy number gain See cases [RCV000135369] Chr8:53790469..54207499 [GRCh38]
Chr8:54703029..55120059 [GRCh37]
Chr8:54865582..55282612 [NCBI36]
Chr8:8q11.23		 uncertain significance
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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 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 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 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1		 pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3		 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
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
NM_003702.5(RGS20):c.104G>A (p.Arg35Gln) single nucleotide variant not specified [RCV004295776] Chr8:53939610 [GRCh38]
Chr8:54852170 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
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 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
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 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_003702.5(RGS20):c.722C>T (p.Ala241Val) single nucleotide variant not specified [RCV004300292] Chr8:53958454 [GRCh38]
Chr8:54871014 [GRCh37]
Chr8:8q11.23		 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 8q11.1-11.23(chr8:46863521-55218838)x3 copy number gain not provided [RCV000683033] Chr8:46863521..55218838 [GRCh37]
Chr8:8q11.1-11.23		 uncertain significance
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
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1		 pathogenic
NM_003702.5(RGS20):c.154G>A (p.Gly52Arg) single nucleotide variant not specified [RCV004295861] Chr8:53939660 [GRCh38]
Chr8:54852220 [GRCh37]
Chr8:8q11.23		 uncertain significance
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 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
NM_170587.4(RGS20):c.336G>A (p.Pro112=) single nucleotide variant not provided [RCV000959029] Chr8:53879428 [GRCh38]
Chr8:54791988 [GRCh37]
Chr8:8q11.23		 benign
NM_170587.4(RGS20):c.203C>T (p.Ala68Val) single nucleotide variant not specified [RCV004662955] Chr8:53879295 [GRCh38]
Chr8:54791855 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_170587.4(RGS20):c.243C>A (p.Ser81Arg) single nucleotide variant not specified [RCV004662956] Chr8:53879335 [GRCh38]
Chr8:54791895 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.161G>A (p.Gly54Glu) single nucleotide variant not provided [RCV000931756] Chr8:53939667 [GRCh38]
Chr8:54852227 [GRCh37]
Chr8:8q11.23		 likely benign
NM_003702.5(RGS20):c.324A>G (p.Glu108=) single nucleotide variant not provided [RCV000956617] Chr8:53954097 [GRCh38]
Chr8:54866657 [GRCh37]
Chr8:8q11.23		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3 copy number gain not provided [RCV001258408] Chr8:52605905..54913501 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_170587.4(RGS20):c.394G>C (p.Gly132Arg) single nucleotide variant not specified [RCV004192092] Chr8:53879486 [GRCh38]
Chr8:54792046 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.122A>G (p.Gln41Arg) single nucleotide variant not specified [RCV004136963] Chr8:53939628 [GRCh38]
Chr8:54852188 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_170587.4(RGS20):c.100T>C (p.Tyr34His) single nucleotide variant not specified [RCV004244387] Chr8:53851999 [GRCh38]
Chr8:54764559 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.662T>G (p.Phe221Cys) single nucleotide variant not specified [RCV004151332] Chr8:53958394 [GRCh38]
Chr8:54870954 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.166C>T (p.Arg56Cys) single nucleotide variant not specified [RCV004184015] Chr8:53939672 [GRCh38]
Chr8:54852232 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.231A>C (p.Arg77Ser) single nucleotide variant not specified [RCV004145345] Chr8:53946677 [GRCh38]
Chr8:54859237 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.553C>T (p.Arg185Trp) single nucleotide variant not specified [RCV004084270] Chr8:53958285 [GRCh38]
Chr8:54870845 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.133G>A (p.Gly45Ser) single nucleotide variant not specified [RCV004091389] Chr8:53939639 [GRCh38]
Chr8:54852199 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.119C>T (p.Ala40Val) single nucleotide variant not specified [RCV004217333] Chr8:53939625 [GRCh38]
Chr8:54852185 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_170587.4(RGS20):c.289G>A (p.Ala97Thr) single nucleotide variant not specified [RCV004264006] Chr8:53879381 [GRCh38]
Chr8:54791941 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_170587.4(RGS20):c.290C>A (p.Ala97Asp) single nucleotide variant not specified [RCV004264007] Chr8:53879382 [GRCh38]
Chr8:54791942 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_170587.4(RGS20):c.172C>A (p.Pro58Thr) single nucleotide variant not specified [RCV004342962] Chr8:53879264 [GRCh38]
Chr8:54791824 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.554G>A (p.Arg185Gln) single nucleotide variant not specified [RCV004342910] Chr8:53958286 [GRCh38]
Chr8:54870846 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8q11.23(chr8:54798193-55200535)x3 copy number gain not provided [RCV003484739] Chr8:54798193..55200535 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.9G>C (p.Thr3=) single nucleotide variant not provided [RCV003423924] Chr8:53881024 [GRCh38]
Chr8:54793584 [GRCh37]
Chr8:8q11.23		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_003702.5(RGS20):c.446A>G (p.Glu149Gly) single nucleotide variant not specified [RCV004449161] Chr8:53954219 [GRCh38]
Chr8:54866779 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_003702.5(RGS20):c.175A>C (p.Asn59His) single nucleotide variant not specified [RCV004449160] Chr8:53939681 [GRCh38]
Chr8:54852241 [GRCh37]
Chr8:8q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2432
Count of miRNA genes:619
Interacting mature miRNAs:673
Transcripts:ENST00000276500, ENST00000297313, ENST00000344277, ENST00000517405, ENST00000517659, ENST00000518286, ENST00000522225, ENST00000523064, ENST00000523280, ENST00000523414
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406953505GWAS602481_Hurinary albumin to creatinine ratio QTL GWAS602481 (human)0.0000006urinary albumin to creatinine ratiourine albumin level to urine creatinine level ratio (CMO:0000384)85394642153946422Human
406986624GWAS635600_Hprogression free survival, ovarian serous carcinoma QTL GWAS635600 (human)0.000006progression free survival, ovarian serous carcinomasurvival measurement (CMO:0001021)85390818453908185Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
406922310GWAS571286_Hchronic obstructive pulmonary disease QTL GWAS571286 (human)0.000004chronic obstructive pulmonary disease85387569153875692Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human
407046220GWAS695196_Huric acid measurement QTL GWAS695196 (human)0.000009uric acid measurementblood uric acid level (CMO:0000501)85387378153873782Human

Markers in Region
D8S1737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37854,786,804 - 54,786,997UniSTSGRCh37
Build 36854,949,357 - 54,949,550RGDNCBI36
Celera850,776,973 - 50,777,166RGD
Cytogenetic Map8q11.23UniSTS
HuRef850,254,339 - 50,254,532UniSTS
Marshfield Genetic Map867.27UniSTS
Marshfield Genetic Map867.27RGD
Genethon Genetic Map865.8UniSTS
deCODE Assembly Map867.4UniSTS
RH102850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37854,871,587 - 54,871,730UniSTSGRCh37
Build 36855,034,140 - 55,034,283RGDNCBI36
Celera850,862,018 - 50,862,161RGD
Cytogenetic Map8q11.23UniSTS
HuRef850,339,239 - 50,339,382UniSTS
GeneMap99-GB4 RH Map8302.57UniSTS
G60566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37854,786,718 - 54,786,996UniSTSGRCh37
Build 36854,949,271 - 54,949,549RGDNCBI36
Celera850,776,887 - 50,777,165RGD
Cytogenetic Map8q11.23UniSTS
HuRef850,254,253 - 50,254,531UniSTS
TNG Radiation Hybrid Map827358.0UniSTS
SHGC-148290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37854,853,668 - 54,853,998UniSTSGRCh37
Build 36855,016,221 - 55,016,551RGDNCBI36
Celera850,844,083 - 50,844,413RGD
Cytogenetic Map8q11.23UniSTS
HuRef850,321,180 - 50,321,510UniSTS
TNG Radiation Hybrid Map827414.0UniSTS
RGS20_782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37854,871,166 - 54,872,010UniSTSGRCh37
Build 36855,033,719 - 55,034,563RGDNCBI36
Celera850,861,597 - 50,862,441RGD
HuRef850,338,818 - 50,339,662UniSTS
RH45828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37854,826,124 - 54,826,273UniSTSGRCh37
Build 36854,988,677 - 54,988,826RGDNCBI36
Celera850,816,539 - 50,816,688RGD
Cytogenetic Map8q11.23UniSTS
HuRef850,293,667 - 50,293,816UniSTS
GeneMap99-GB4 RH Map8312.3UniSTS
NCBI RH Map8785.4UniSTS


Expression

RNA-SEQ Expression

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
visual system
1187 2081 2519 2042 4949 1528 2127 3 447 1494 289 2264 6046 5678 47 3727 786 1699 1586 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_170587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC100821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC113194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF074979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF366054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF366055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF366056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF366057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ308180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000276500   ⟹   ENSP00000276500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,880,872 - 53,959,303 (+)Ensembl
Ensembl Acc Id: ENST00000297313   ⟹   ENSP00000297313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,851,795 - 53,959,303 (+)Ensembl
Ensembl Acc Id: ENST00000344277   ⟹   ENSP00000344630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,851,900 - 53,959,303 (+)Ensembl
Ensembl Acc Id: ENST00000517405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,945,325 - 53,958,697 (+)Ensembl
Ensembl Acc Id: ENST00000517659   ⟹   ENSP00000428795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,851,900 - 53,959,303 (+)Ensembl
Ensembl Acc Id: ENST00000518286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,879,884 - 53,954,142 (+)Ensembl
Ensembl Acc Id: ENST00000522225   ⟹   ENSP00000430627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,880,872 - 53,959,296 (+)Ensembl
Ensembl Acc Id: ENST00000523064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,880,901 - 53,913,922 (+)Ensembl
Ensembl Acc Id: ENST00000523280   ⟹   ENSP00000429897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,851,900 - 53,959,303 (+)Ensembl
Ensembl Acc Id: ENST00000523414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl853,880,000 - 53,954,223 (+)Ensembl
RefSeq Acc Id: NM_001286673   ⟹   NP_001273602
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,851,795 - 53,959,303 (+)NCBI
HuRef850,231,893 - 50,339,516 (+)NCBI
CHM1_1854,816,161 - 54,923,379 (+)NCBI
T2T-CHM13v2.0854,229,188 - 54,336,699 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286674   ⟹   NP_001273603
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,851,795 - 53,959,303 (+)NCBI
HuRef850,231,893 - 50,339,516 (+)NCBI
CHM1_1854,816,161 - 54,923,379 (+)NCBI
T2T-CHM13v2.0854,229,188 - 54,336,699 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286675   ⟹   NP_001273604
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,851,795 - 53,959,303 (+)NCBI
HuRef850,231,893 - 50,339,516 (+)NCBI
CHM1_1854,816,161 - 54,923,379 (+)NCBI
T2T-CHM13v2.0854,229,188 - 54,336,699 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003702   ⟹   NP_003693
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,880,872 - 53,959,303 (+)NCBI
GRCh37854,764,368 - 54,871,863 (+)ENTREZGENE
Build 36854,956,118 - 55,034,416 (+)NCBI Archive
HuRef850,231,893 - 50,339,516 (+)NCBI
CHM1_1854,845,225 - 54,923,379 (+)NCBI
T2T-CHM13v2.0854,258,265 - 54,336,699 (+)NCBI
Sequence:
RefSeq Acc Id: NM_170587   ⟹   NP_733466
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,851,795 - 53,959,303 (+)NCBI
GRCh37854,764,368 - 54,871,863 (+)NCBI
Build 36854,926,921 - 55,034,416 (+)NCBI Archive
HuRef850,231,893 - 50,339,516 (+)NCBI
CHM1_1854,816,161 - 54,923,379 (+)NCBI
T2T-CHM13v2.0854,229,188 - 54,336,699 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104578
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,881,016 - 53,913,922 (+)NCBI
HuRef850,231,893 - 50,339,516 (+)NCBI
CHM1_1854,845,225 - 54,878,270 (+)NCBI
T2T-CHM13v2.0854,258,409 - 54,291,308 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104579
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,881,016 - 53,959,303 (+)NCBI
HuRef850,231,893 - 50,339,516 (+)NCBI
CHM1_1854,845,225 - 54,923,379 (+)NCBI
T2T-CHM13v2.0854,258,409 - 54,336,699 (+)NCBI
Sequence:
RefSeq Acc Id: NP_733466   ⟸   NM_170587
- Peptide Label: isoform a
- UniProtKB: Q96BG9 (UniProtKB/Swiss-Prot),   O76081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003693   ⟸   NM_003702
- Peptide Label: isoform b
- UniProtKB: H9NIM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273602   ⟸   NM_001286673
- Peptide Label: isoform c
- UniProtKB: O76081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273604   ⟸   NM_001286675
- Peptide Label: isoform e
- UniProtKB: O76081 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273603   ⟸   NM_001286674
- Peptide Label: isoform d
- UniProtKB: O76081 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000428795   ⟸   ENST00000517659
Ensembl Acc Id: ENSP00000297313   ⟸   ENST00000297313
Ensembl Acc Id: ENSP00000430627   ⟸   ENST00000522225
Ensembl Acc Id: ENSP00000429897   ⟸   ENST00000523280
Ensembl Acc Id: ENSP00000276500   ⟸   ENST00000276500
Ensembl Acc Id: ENSP00000344630   ⟸   ENST00000344277
Protein Domains
RGS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O76081-F1-model_v2 AlphaFold O76081 1-388 view protein structure

Promoters
RGD ID:7213305
Promoter ID:EPDNEW_H12398
Type:initiation region
Name:RGS20_2
Description:regulator of G protein signaling 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12399  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,851,795 - 53,851,855EPDNEW
RGD ID:7213307
Promoter ID:EPDNEW_H12399
Type:initiation region
Name:RGS20_1
Description:regulator of G protein signaling 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12398  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38853,880,872 - 53,880,932EPDNEW
RGD ID:6806997
Promoter ID:HG_KWN:61292
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003XRR.1,   UC003XRS.1,   UC003XRT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36854,955,121 - 54,956,387 (+)MPROMDB
RGD ID:6813499
Promoter ID:HG_ACW:77117
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:RGS20.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36854,956,786 - 54,957,557 (+)MPROMDB
RGD ID:6814803
Promoter ID:HG_XEF:7953
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001002431,   NM_001076327,   NM_001128030
Position:
Human AssemblyChrPosition (strand)Source
Build 36855,014,066 - 55,014,566 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14600 AgrOrtholog
COSMIC RGS20 COSMIC
Ensembl Genes ENSG00000147509 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000276500 ENTREZGENE
  ENST00000276500.5 UniProtKB/Swiss-Prot
  ENST00000297313 ENTREZGENE
  ENST00000297313.8 UniProtKB/Swiss-Prot
  ENST00000344277 ENTREZGENE
  ENST00000344277.10 UniProtKB/Swiss-Prot
  ENST00000517659.5 UniProtKB/TrEMBL
  ENST00000522225 ENTREZGENE
  ENST00000522225.5 UniProtKB/TrEMBL
  ENST00000523064 ENTREZGENE
  ENST00000523280.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.167.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.196.10 UniProtKB/TrEMBL
GTEx ENSG00000147509 GTEx
HGNC ID HGNC:14600 ENTREZGENE
Human Proteome Map RGS20 Human Proteome Map
InterPro RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_subdom1/3 UniProtKB/TrEMBL
  RGS_subdomain_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8601 UniProtKB/Swiss-Prot
NCBI Gene 8601 ENTREZGENE
OMIM 607193 OMIM
PANTHER REGULATOR OF G PROTEIN SIGNALING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  REGULATOR OF G-PROTEIN SIGNALING 20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34373 PharmGKB
PRINTS RGSPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48097 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KSW4_HUMAN UniProtKB/TrEMBL
  E5RGA3_HUMAN UniProtKB/TrEMBL
  E5RH54_HUMAN UniProtKB/TrEMBL
  H9NIM5 ENTREZGENE, UniProtKB/TrEMBL
  O76081 ENTREZGENE
  Q96BG9 ENTREZGENE
  RGS20_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96BG9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-04-18 RGS20  regulator of G protein signaling 20    regulator of G-protein signaling 20  Symbol and/or name change 5135510 APPROVED