AGTR2 (angiotensin II receptor type 2) - Rat Genome Database

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Gene: AGTR2 (angiotensin II receptor type 2) Homo sapiens
Analyze
Symbol: AGTR2
Name: angiotensin II receptor type 2
RGD ID: 619558
HGNC Page HGNC
Description: Exhibits angiotensin type II receptor activity. Involved in several processes, including positive regulation of phosphoprotein phosphatase activity; regulation of signal transduction; and vasodilation. Predicted to localize to plasma membrane. Implicated in IgA glomerulonephritis; end stage renal disease; hypoglycemia; intellectual disability; and vesicoureteral reflux. Biomarker of IgA glomerulonephritis; dilated cardiomyopathy; pancreatic cancer; renal cell carcinoma; and vesicoureteral reflux.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: angiotensin II receptor, type 2; angiotensin II type-2 receptor; AT2; ATGR2; MRX88; type-2 angiotensin II receptor
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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX116,170,744 - 116,174,974 (+)EnsemblGRCh38hg38GRCh38
GRCh38X116,170,744 - 116,174,974 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X115,301,997 - 115,306,227 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X115,215,986 - 115,220,253 (+)NCBINCBI36hg18NCBI36
Build 34X115,113,884 - 115,117,702NCBI
CeleraX115,832,555 - 115,836,822 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX104,838,955 - 104,843,260 (+)NCBIHuRef
CHM1_1X115,212,791 - 115,217,059 (+)NCBICHM1_1
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
(+)-pilocarpine  (ISO)
(R)-noradrenaline  (ISO)
(S)-nicotine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3',5'-cyclic GMP  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(5,6,7,8-tetrahydroimidazo[1,5-a]pyridin-5-yl)benzonitrile  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
aldosterone  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
angiotensin II  (ISO)
benzalkonium chloride  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
caffeine  (ISO)
candesartan  (EXP,ISO)
Candesartan cilexetil  (ISO)
CGP-42112A  (ISO)
cholesterol  (ISO)
cilazapril monohydrate  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
curcumin  (ISO)
dexamethasone  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
edaravone  (ISO)
enalapril  (ISO)
entinostat  (EXP)
esculetin  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fructose  (ISO)
genistein  (ISO)
glycidol  (ISO)
GW 3965  (ISO)
hydrogen peroxide  (ISO)
Ile(5)-angiotensin II  (ISO)
lipopolysaccharide  (ISO)
lithium chloride  (ISO)
losartan  (ISO)
Methylthiouracil  (ISO)
mevinphos  (ISO)
mifepristone  (ISO)
Nandrolone decanoate  (ISO)
nicotine  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
p-menthan-3-ol  (EXP)
paraquat  (EXP)
PD123319  (EXP,ISO)
peroxynitrous acid  (ISO)
phenylephrine  (ISO)
picrotoxin  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium bromate  (ISO)
reserpine  (ISO)
rotenone  (ISO)
sodium chloride  (ISO)
spironolactone  (ISO)
streptozocin  (ISO)
taurine  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vinclozolin  (ISO)
XL147  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aldosterone secretion  (IEA,ISO)
angiotensin-activated signaling pathway  (IEA)
angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure  (ISO)
blood vessel remodeling  (TAS)
brain development  (NAS)
brain renin-angiotensin system  (ISO)
cell growth involved in cardiac muscle cell development  (IEA,ISO)
cell surface receptor signaling pathway  (IDA)
cellular response to dexamethasone stimulus  (IEA)
cellular sodium ion homeostasis  (IEA,ISO)
cerebellar cortex development  (IEA,ISO)
dopamine biosynthetic process  (IEA,ISO)
exploration behavior  (ISO)
G protein-coupled receptor signaling pathway  (IBA,IC,TAS)
G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger  (ISS)
inflammatory response  (IBA,ISO)
intracellular signal transduction  (ISS)
kidney development  (ISO)
kidney morphogenesis  (IEA,ISO)
negative regulation of blood vessel endothelial cell migration  (NAS)
negative regulation of cell growth  (TAS)
negative regulation of fibroblast proliferation  (IEA,ISO)
negative regulation of heart rate  (ISS)
negative regulation of icosanoid secretion  (IEA,ISO)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of neurotrophin TRK receptor signaling pathway  (IMP)
negative regulation of norepinephrine secretion  (IEA,ISO)
negative regulation of signaling receptor activity  (IEA)
nitric oxide mediated signal transduction  (IC,TAS)
positive regulation of branching involved in ureteric bud morphogenesis  (IEA)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of cytokine production  (IEA,ISO)
positive regulation of extrinsic apoptotic signaling pathway  (IMP)
positive regulation of metanephric glomerulus development  (ISO)
positive regulation of nitric oxide biosynthetic process  (IC)
positive regulation of nitric-oxide synthase activity  (ISS)
positive regulation of phosphoprotein phosphatase activity  (IDA)
positive regulation of renal sodium excretion  (IEA,ISO)
positive regulation of transcription, DNA-templated  (ISO)
regulation of blood pressure  (TAS)
regulation of metanephros size  (ISO)
regulation of protein import into nucleus  (IEA,ISO)
regulation of systemic arterial blood pressure by circulatory renin-angiotensin  (ISS)
renin-angiotensin regulation of aldosterone production  (IEA,ISO)
response to organonitrogen compound  (ISO)
vasodilation  (IDA,ISO)

Cellular Component

Molecular Function

References

References - curated
1. Arumugam S, etal., Toxicology. 2012 Jan 27;291(1-3):139-45. doi: 10.1016/j.tox.2011.11.008. Epub 2011 Nov 23.
2. Benndorf RA, etal., Kidney Int. 2009 May;75(10):1039-49. Epub 2009 Feb 11.
3. Bibeau K, etal., J Endocrinol. 2011 Apr;209(1):85-94. Epub 2011 Feb 8.
4. Bonnet F, etal., J Hypertens. 2002 Aug;20(8):1615-24.
5. Bose KS and Sarma RH, Biochem Biophys Res Commun 1975 Oct 27;66(4):1173-9.
6. Cao Z, etal., J Am Soc Nephrol. 2002 Jul;13(7):1773-87.
7. Chan LY, etal., J Am Soc Nephrol. 2005 Aug;16(8):2306-17. Epub 2005 Jun 1.
8. Chertin B, etal., J Pediatr Surg. 2002 Feb;37(2):251-5.
9. da Silva AQ, etal., Brain Res. 2011 Jan 12;1368:231-8. Epub 2010 Oct 30.
10. de Gasparo M, etal., Pharmacol Rev. 2000 Sep;52(3):415-72.
11. Dolley-Hitze T, etal., Br J Cancer. 2010 Nov 23;103(11):1698-705.
12. Esteban V, etal., J Am Soc Nephrol. 2004 Jun;15(6):1514-29.
13. Flores-Munoz M, etal., Hypertension. 2012 Feb;59(2):300-7. Epub 2011 Dec 19.
14. Gao L, etal., Hypertension. 2008 Oct;52(4):708-14. Epub 2008 Sep 2.
15. Gelosa P, etal., J Hypertens. 2009 Dec;27(12):2444-51.
16. Ghosh S, etal., Am J Med Sci. 2002 Dec;324(6):296-304.
17. GOA_HUMAN data from the GO Consortium
18. Goto M, etal., Hypertens Res. 2002 Jan;25(1):125-33.
19. Hahn H, etal., Pediatr Nephrol. 2005 Nov;20(11):1541-4. Epub 2005 Aug 25.
20. Hashikawa-Hobara N, etal., Diabetes. 2012 Apr;61(4):925-32. Epub 2012 Feb 22.
21. Ichiki T, etal., Nature 1995 Oct 26;377(6551):748-50.
22. Johren O, etal., Cardiovasc Res. 2004 Jun 1;62(3):460-7.
23. Kim HJ, etal., J Pharmacol Exp Ther. 2011 Feb 25.
24. Laksmi NK, etal., J Pediatr Urol. 2010 Dec;6(6):560-6. Epub 2010 Feb 10.
25. Lam KY and Leung PS, Eur J Endocrinol. 2002 Apr;146(4):567-72.
26. Lee JH, etal., Am J Physiol Regul Integr Comp Physiol. 2008 Jul;295(1):R144-54. Epub 2008 May 7.
27. Lee S, etal., Exp Transl Stroke Med. 2012 Aug 24;4(1):16.
28. Lopez-Aguilera F, etal., Neuroscience. 2012 Aug 2;216:1-9. Epub 2012 May 6.
29. Lukkarinen H, etal., Pediatr Res. 2004 Feb;55(2):326-33. Epub 2003 Nov 6.
30. Matavelli LC, etal., Hypertension. 2011 Feb;57(2):308-13. Epub 2010 Dec 28.
31. McCarthy CA, etal., Stroke. 2009 Apr;40(4):1482-9. Epub 2009 Feb 26.
32. Mii A, etal., Lab Invest. 2009 Feb;89(2):164-77. Epub 2009 Jan 12.
33. Moulder JE, etal., Radiat Res. 2004 Mar;161(3):312-7.
34. Naito T, etal., Am J Physiol Renal Physiol. 2010 Mar;298(3):F683-91. Epub 2009 Dec 30.
35. Nishimura H, etal., Mol Cell 1999 Jan;3(1):1-10.
36. Nogueira-Silva C, etal., Mol Med. 2012 Mar 27;18(1):231-43. doi: 10.2119/molmed.2011.00210.
37. OMIM Disease Annotation Pipeline
38. Padia SH and Carey RM, Pflugers Arch. 2013 Jan;465(1):99-110. doi: 10.1007/s00424-012-1146-3. Epub 2012 Sep 5.
39. Padia SH, etal., Hypertension. 2006 Mar;47(3):537-44. Epub 2005 Dec 27.
40. Palm F, etal., Hypertension. 2008 Feb;51(2):345-51. Epub 2007 Dec 24.
41. Pedersen-Bjergaard U, etal., Am J Med. 2008 Mar;121(3):246.e1-8.
42. Pipeline to import KEGG annotations from KEGG into RGD
43. Reaux A, etal., Trends Endocrinol Metab. 2001 May-Jun;12(4):157-62.
44. RGD automated import pipeline for gene-chemical interactions
45. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
46. Rigoli L, etal., Pediatr Res. 2004 Dec;56(6):988-93. Epub 2004 Oct 6.
47. Sakai N, etal., J Hypertens. 2008 Apr;26(4):780-90.
48. Senbonmatsu T, etal., EMBO J. 2003 Dec 15;22(24):6471-82.
49. Shao Y, etal., Acta Pharmacol Sin. 2008 Jul;29(7):829-37.
50. Sourris KC, etal., Diabetologia. 2010 Nov;53(11):2442-51. Epub 2010 Jul 15.
51. Tsutsumi Y, etal., Circ Res. 1998 Nov 16;83(10):1035-46.
52. Venegas-Pont M, etal., Am J Physiol Regul Integr Comp Physiol. 2011 Nov;301(5):R1286-92. Epub 2011 Sep 7.
53. Vervoort VS, etal., Science 2002 Jun 28;296(5577):2401-3.
54. Wang T, etal., Chin Med J (Engl). 2008 Nov 20;121(22):2312-9.
55. Waseda Y, etal., Respir Res. 2008 May 23;9:43.
56. Yamaguchi N, etal., Peptides. 2006 Sep;27(9):2258-70. Epub 2006 May 24.
57. Yoneda A, etal., J Urol. 2002 Sep;168(3):1138-41.
58. Yoon HJ, etal., J Korean Med Sci. 2009 Jan;24 Suppl:S38-43. Epub 2009 Jan 28.
59. Yvan-Charvet L, etal., Diabetes. 2005 Apr;54(4):991-9.
60. Zong WN, etal., Acta Pharmacol Sin. 2011 Nov;32(11):1345-50. doi: 10.1038/aps.2011.96. Epub 2011 Oct 3.
Additional References at PubMed
PMID:1550596   PMID:2834384   PMID:7477266   PMID:7719706   PMID:7733925   PMID:7790004   PMID:7945336   PMID:7999093   PMID:8185599   PMID:8502225   PMID:8552595   PMID:8663053  
PMID:8957548   PMID:9099917   PMID:9884335   PMID:10406457   PMID:10710290   PMID:11053482   PMID:11055978   PMID:11081769   PMID:11153734   PMID:11200871   PMID:11324803   PMID:11446495  
PMID:11459796   PMID:11544438   PMID:11709400   PMID:11733189   PMID:11819093   PMID:11880254   PMID:12133421   PMID:12453540   PMID:12464615   PMID:12477932   PMID:12522467   PMID:12531525  
PMID:12544508   PMID:12579398   PMID:12660887   PMID:12746399   PMID:12800945   PMID:12881481   PMID:12911547   PMID:12924622   PMID:12925562   PMID:14598163   PMID:14627490   PMID:14764974  
PMID:14987254   PMID:15013293   PMID:15013322   PMID:15013333   PMID:15117835   PMID:15123239   PMID:15123577   PMID:15123706   PMID:15221785   PMID:15385810   PMID:15458433   PMID:15489334  
PMID:15638358   PMID:15710780   PMID:15772651   PMID:15914614   PMID:16080803   PMID:16109806   PMID:16112405   PMID:16283672   PMID:16289034   PMID:16344560   PMID:16395664   PMID:16522324  
PMID:16550310   PMID:16598200   PMID:16609364   PMID:16944335   PMID:16954165   PMID:17000928   PMID:17159079   PMID:17159080   PMID:17160213   PMID:17261659   PMID:17270098   PMID:17336987  
PMID:17393691   PMID:17433630   PMID:17499413   PMID:17515833   PMID:17522061   PMID:17548686   PMID:17620959   PMID:17630322   PMID:17653210   PMID:17707359   PMID:17944121   PMID:18049304  
PMID:18059164   PMID:18188697   PMID:18205097   PMID:18240029   PMID:18254975   PMID:18296263   PMID:18331441   PMID:18344519   PMID:18404604   PMID:18417209   PMID:18437528   PMID:18488444  
PMID:18534055   PMID:18577758   PMID:18594540   PMID:18660489   PMID:18848837   PMID:19023273   PMID:19074439   PMID:19074441   PMID:19082699   PMID:19155782   PMID:19274051   PMID:19288324  
PMID:19308748   PMID:19344625   PMID:19357319   PMID:19397700   PMID:19404281   PMID:19509012   PMID:19524223   PMID:19578796   PMID:19716087   PMID:19759061   PMID:19779016   PMID:19781541  
PMID:19820429   PMID:19861345   PMID:19861347   PMID:19861349   PMID:19861351   PMID:19861352   PMID:19861353   PMID:19913121   PMID:19948975   PMID:19959718   PMID:19959996   PMID:19996275  
PMID:20181281   PMID:20237496   PMID:20300066   PMID:20304486   PMID:20371166   PMID:20467270   PMID:20486282   PMID:20592051   PMID:20606419   PMID:20628086   PMID:20714875   PMID:20732682  
PMID:20837730   PMID:20844184   PMID:21163866   PMID:21436209   PMID:21602797   PMID:21671168   PMID:21740964   PMID:21850060   PMID:21873635   PMID:21937042   PMID:22162314   PMID:22407459  
PMID:22710646   PMID:22869520   PMID:22987376   PMID:23122839   PMID:23176211   PMID:23255326   PMID:23406015   PMID:23597562   PMID:24385301   PMID:24391821   PMID:24440243   PMID:24674681  
PMID:24796630   PMID:24887114   PMID:24917146   PMID:24995698   PMID:25138435   PMID:25172908   PMID:25487516   PMID:25682288   PMID:25713419   PMID:25816156   PMID:26163449   PMID:26225830  
PMID:26616438   PMID:26850942   PMID:26857745   PMID:26867007   PMID:27000216   PMID:27062416   PMID:27285537   PMID:27339867   PMID:27477281   PMID:28106497   PMID:28379944   PMID:28599664  
PMID:28641212   PMID:28697804   PMID:28722118   PMID:28792482   PMID:28877031   PMID:29038523   PMID:29436482   PMID:29455433   PMID:29561708   PMID:29676528   PMID:29714512   PMID:29967536  
PMID:29976627   PMID:30621494   PMID:31072913   PMID:31520674   PMID:31989676   PMID:32250244   PMID:32336612   PMID:32633718   PMID:32661792   PMID:32669569  


Genomics

Comparative Map Data
AGTR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX116,170,744 - 116,174,974 (+)EnsemblGRCh38hg38GRCh38
GRCh38X116,170,744 - 116,174,974 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X115,301,997 - 115,306,227 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X115,215,986 - 115,220,253 (+)NCBINCBI36hg18NCBI36
Build 34X115,113,884 - 115,117,702NCBI
CeleraX115,832,555 - 115,836,822 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX104,838,955 - 104,843,260 (+)NCBIHuRef
CHM1_1X115,212,791 - 115,217,059 (+)NCBICHM1_1
Agtr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X21,350,863 - 21,355,072 (+)NCBIGRCm39mm39
GRCm39 EnsemblX21,350,783 - 21,355,403 (+)Ensembl
GRCm38X21,484,624 - 21,488,833 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX21,484,544 - 21,489,164 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X21,061,752 - 21,065,957 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X20,641,585 - 20,646,123 (+)NCBImm8
CeleraX19,607,387 - 19,611,593 (+)NCBICelera
Cytogenetic MapXA2NCBI
cM MapX16.71NCBI
Agtr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X112,119,673 - 112,124,060 (+)NCBI
Rnor_6.0 EnsemblX119,390,013 - 119,393,842 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X119,389,480 - 119,393,845 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X119,534,483 - 119,538,667 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX111,375,374 - 111,376,465 (+)NCBICelera
Cytogenetic MapXq34NCBI
Agtr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555343,653,157 - 3,654,248 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555343,653,112 - 3,654,248 (-)NCBIChiLan1.0ChiLan1.0
AGTR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X115,670,022 - 115,674,287 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX115,671,594 - 115,672,685 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X105,252,903 - 105,257,171 (+)NCBIMhudiblu_PPA_v0panPan3
AGTR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X88,703,551 - 88,708,451 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX88,705,765 - 88,706,853 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX74,841,362 - 74,845,718 (+)NCBI
ROS_Cfam_1.0X90,431,596 - 90,435,944 (+)NCBI
UMICH_Zoey_3.1X87,892,846 - 87,897,203 (+)NCBI
UNSW_CanFamBas_1.0X89,651,006 - 89,655,363 (+)NCBI
UU_Cfam_GSD_1.0X89,385,692 - 89,390,050 (+)NCBI
Agtr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X87,731,904 - 87,736,189 (+)NCBI
SpeTri2.0NW_00493647913,252,678 - 13,255,570 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGTR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX95,269,300 - 95,270,388 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X95,267,709 - 95,272,237 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X109,822,530 - 109,826,739 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AGTR2
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Agtr2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624967327,627 - 332,000 (-)NCBI

Position Markers
GDB:360300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X115,303,531 - 115,304,625UniSTSGRCh37
Build 36X115,217,559 - 115,218,653RGDNCBI36
CeleraX115,834,155 - 115,835,249RGD
Cytogenetic MapXq22-q23UniSTS
HuRefX104,840,526 - 104,841,620UniSTS
PMC153509P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X115,304,023 - 115,304,304UniSTSGRCh37
Build 36X115,218,051 - 115,218,332RGDNCBI36
CeleraX115,834,476 - 115,834,757RGD
Cytogenetic MapXq22-q23UniSTS
HuRefX104,841,018 - 104,841,299UniSTS
STS-U20860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X115,304,642 - 115,304,789UniSTSGRCh37
Build 36X115,218,670 - 115,218,817RGDNCBI36
CeleraX115,833,991 - 115,834,138RGD
Cytogenetic MapXq22-q23UniSTS
HuRefX104,841,637 - 104,841,784UniSTS
GeneMap99-GB4 RH MapX289.62UniSTS
AGTR2__4208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X115,304,945 - 115,305,861UniSTSGRCh37
Build 36X115,218,973 - 115,219,889RGDNCBI36
CeleraX115,832,919 - 115,833,835RGD
HuRefX104,841,940 - 104,842,896UniSTS
AGTR2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X115,303,821 - 115,304,009UniSTSGRCh37
CeleraX115,834,771 - 115,834,959UniSTS
HuRefX104,840,816 - 104,841,004UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:935
Count of miRNA genes:635
Interacting mature miRNAs:717
Transcripts:ENST00000371906
Prediction methods:Miranda, Pita
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
High
Medium 3 5 1 2 6 20 42 106 1 1 2
Low 179 287 57 6 89 7 14 44 127 16 135 297 2 1 46
Below cutoff 1020 1192 378 72 350 45 701 807 820 81 382 378 28 481 456

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH013177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI911273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY322542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY324607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY536522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR738498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA538369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L34579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U10273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U16957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U27478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371906   ⟹   ENSP00000360973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX116,170,744 - 116,174,974 (+)Ensembl
RefSeq Acc Id: ENST00000680409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX116,171,813 - 116,173,430 (+)Ensembl
RefSeq Acc Id: ENST00000681852   ⟹   ENSP00000505750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX116,170,747 - 116,173,372 (+)Ensembl
RefSeq Acc Id: NM_000686   ⟹   NP_000677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X116,170,744 - 116,174,974 (+)NCBI
GRCh37X115,301,958 - 115,306,225 (+)ENTREZGENE
Build 36X115,215,986 - 115,220,253 (+)NCBI Archive
HuRefX104,838,955 - 104,843,260 (+)ENTREZGENE
CHM1_1X115,212,791 - 115,217,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385624   ⟹   NP_001372553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X116,170,744 - 116,174,974 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_000677   ⟸   NM_000686
- Peptide Label: isoform 1
- UniProtKB: P50052 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360973   ⟸   ENST00000371906
RefSeq Acc Id: NP_001372553   ⟸   NM_001385624
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000505750   ⟸   ENST00000681852

Protein Structures
Name Modeller Protein Id AA Range Protein Structure Video
AT2 I-TASSER model P50052 1-363 view protein structure  

Promoters
RGD ID:13627916
Promoter ID:EPDNEW_H29233
Type:multiple initiation site
Name:AGTR2_1
Description:angiotensin II receptor type 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X116,170,751 - 116,170,811EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000686.5(AGTR2):c.817C>A (p.His273Asn) single nucleotide variant not provided [RCV000521675] ChrX:116173097 [GRCh38]
ChrX:115304350 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720985]|X-Linked Mental Retardation 88 [RCV000604777]|not provided [RCV000088651]|not specified [RCV000116283] ChrX:116172342 [GRCh38]
ChrX:115303595 [GRCh37]
ChrX:Xq23
benign|likely benign|uncertain significance
NM_000686.5(AGTR2):c.402del (p.Phe134fs) deletion not provided [RCV000088652]|not specified [RCV000378040] ChrX:116172675 [GRCh38]
ChrX:115303928 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
NM_000686.5(AGTR2):c.971G>A (p.Arg324Gln) single nucleotide variant not provided [RCV000088653] ChrX:116173251 [GRCh38]
ChrX:115304504 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.157A>T (p.Ile53Phe) single nucleotide variant not provided [RCV000088654] ChrX:116172437 [GRCh38]
ChrX:115303690 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.1009A>G (p.Ile337Val) single nucleotide variant not provided [RCV000088655] ChrX:116173289 [GRCh38]
ChrX:115304542 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000686.5(AGTR2):c.121G>A (p.Asp41Asn) single nucleotide variant not provided [RCV000079212] ChrX:116172401 [GRCh38]
ChrX:115303654 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.743G>A (p.Arg248Lys) single nucleotide variant not provided [RCV000971093]|not specified [RCV000079213] ChrX:116173023 [GRCh38]
ChrX:115304276 [GRCh37]
ChrX:Xq23
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq23(chrX:112920714-116408703)x0 copy number loss See cases [RCV000139029] ChrX:112920714..116408703 [GRCh38]
ChrX:112163942..115539863 [GRCh37]
ChrX:112050598..115453891 [NCBI36]
ChrX:Xq23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000686.5(AGTR2):c.231G>T (p.Lys77Asn) single nucleotide variant not provided [RCV000152760] ChrX:116172511 [GRCh38]
ChrX:115303764 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000686.5(AGTR2):c.871G>A (p.Glu291Lys) single nucleotide variant not provided [RCV000521268] ChrX:116173151 [GRCh38]
ChrX:115304404 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.443A>G (p.Tyr148Cys) single nucleotide variant not provided [RCV000522966] ChrX:116172723 [GRCh38]
ChrX:115303976 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000686.5(AGTR2):c.298T>C (p.Trp100Arg) single nucleotide variant not provided [RCV000425261] ChrX:116172578 [GRCh38]
ChrX:115303831 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000686.5(AGTR2):c.559A>G (p.Ile187Val) single nucleotide variant not provided [RCV000422112] ChrX:116172839 [GRCh38]
ChrX:115304092 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.1012A>G (p.Thr338Ala) single nucleotide variant not provided [RCV000443861] ChrX:116173292 [GRCh38]
ChrX:115304545 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.722C>T (p.Thr241Met) single nucleotide variant not provided [RCV000443904] ChrX:116173002 [GRCh38]
ChrX:115304255 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.930C>A (p.Asn310Lys) single nucleotide variant not provided [RCV000420566] ChrX:116173210 [GRCh38]
ChrX:115304463 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000686.5(AGTR2):c.61G>A (p.Gly21Arg) single nucleotide variant not provided [RCV000484129] ChrX:116172341 [GRCh38]
ChrX:115303594 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3 copy number gain See cases [RCV000510739] ChrX:111149921..117993284 [GRCh37]
ChrX:Xq23-24
likely pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_000686.5(AGTR2):c.498T>C (p.Leu166=) single nucleotide variant History of neurodevelopmental disorder [RCV000721062]|not provided [RCV000918574] ChrX:116172778 [GRCh38]
ChrX:115304031 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_000686.5(AGTR2):c.1011T>A (p.Ile337=) single nucleotide variant History of neurodevelopmental disorder [RCV000721061]|not provided [RCV000918575] ChrX:116173291 [GRCh38]
ChrX:115304544 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq23(chrX:115060366-115439852)x3 copy number gain not provided [RCV000753722] ChrX:115060366..115439852 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_000686.5(AGTR2):c.691T>C (p.Tyr231His) single nucleotide variant not provided [RCV000901996] ChrX:116172971 [GRCh38]
ChrX:115304224 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000686.5(AGTR2):c.378G>A (p.Leu126=) single nucleotide variant not provided [RCV000914559] ChrX:116172658 [GRCh38]
ChrX:115303911 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:338 AgrOrtholog
COSMIC AGTR2 COSMIC
Ensembl Genes ENSG00000180772 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000360973 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000505750 ENTREZGENE
Ensembl Transcript ENST00000371906 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000681852 ENTREZGENE
GTEx ENSG00000180772 GTEx
HGNC ID HGNC:338 ENTREZGENE
Human Proteome Map AGTR2 Human Proteome Map
InterPro ATII_AT2_rcpt UniProtKB/Swiss-Prot
  ATII_rcpt UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
KEGG Report hsa:186 UniProtKB/Swiss-Prot
NCBI Gene 186 ENTREZGENE
OMIM 300034 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB AGTR2 RGD, PharmGKB
PRINTS ANGIOTENSINR UniProtKB/Swiss-Prot
  ANGIOTENSN2R UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
UniProt AGTR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R9V1 UniProtKB/Swiss-Prot
  Q13016 UniProtKB/Swiss-Prot
  Q6FGY7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 AGTR2  angiotensin II receptor type 2    angiotensin II receptor, type 2  Symbol and/or name change 5135510 APPROVED