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:338
Description: Enables angiotensin type II receptor activity. Involved in cell surface receptor signaling pathway; regulation of signal transduction; and vasodilation. Predicted to be located in membrane. Predicted to be active in 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
Previously known as: angiotensin II receptor, type 2; angiotensin II type-2 receptor; AT2; AT2 receptor; 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
GRCh38X116,170,744 - 116,174,974 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX116,170,744 - 116,174,974 (+)EnsemblGRCh38hg38GRCh38
GRCh37X115,301,997 - 115,306,227 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X115,215,986 - 115,220,253 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X115,113,884 - 115,117,702NCBI
CeleraX115,832,555 - 115,836,822 (-)NCBICelera
Cytogenetic MapXq23NCBI
HuRefX104,838,955 - 104,843,260 (+)NCBIHuRef
CHM1_1X115,212,791 - 115,217,059 (+)NCBICHM1_1
T2T-CHM13v2.0X114,580,328 - 114,584,558 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
AIDS-Associated Nephropathy  (ISO)
Alveolar Bone Loss  (ISO)
asthma  (ISO)
autistic disorder  (IAGP)
Brain Hypoxia-Ischemia  (ISO)
breast lobular carcinoma  (EXP)
chronic kidney disease  (ISO)
congenital diaphragmatic hernia  (ISO)
congestive heart failure  (ISO)
Diabetic Cardiomyopathies  (EXP)
Diabetic Nephropathies  (ISO)
dilated cardiomyopathy  (IEP,ISO)
end stage renal disease  (IAGP,ISO)
Endotoxemia  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Mammary Neoplasms  (EXP)
Experimental Radiation Injuries  (ISO)
Fetal Growth Retardation  (ISO)
Fibrosis  (ISO)
focal segmental glomerulosclerosis  (ISO)
genetic disease  (IAGP)
glomerulonephritis  (ISO)
glomerulosclerosis  (ISO)
hypertension  (EXP,ISO)
hypoglycemia  (IAGP)
IgA glomerulonephritis  (IAGP,IEP)
Inflammation  (ISO)
Insulin Resistance  (ISO)
intellectual disability  (IAGP,IDA)
Left Ventricular Hypertrophy  (EXP)
meconium aspiration syndrome  (ISO)
Neoplasm Metastasis  (EXP)
non-syndromic X-linked intellectual disability 88  (IAGP)
obesity  (ISO)
ovarian cyst  (EXP)
pancreatic cancer  (IEP)
Prenatal Exposure Delayed Effects  (ISO)
pulmonary fibrosis  (ISO)
renal cell carcinoma  (IEP)
renovascular hypertension  (ISO)
Reperfusion Injury  (ISO)
Stomach Neoplasms  (EXP)
Stroke  (ISO)
syndromic X-linked intellectual disability Lubs type  (IAGP)
systemic lupus erythematosus  (ISO)
type 2 diabetes mellitus  (ISO)
Urogenital Abnormalities  (IAGP)
Vascular System Injuries  (EXP)
vesicoureteral reflux  (IAGP,IEP)
X-Linked Intellectual Developmental Disorders  (EXP)

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)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
aldehydo-D-glucose  (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)
D-glucose  (ISO)
dexamethasone  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dopaminechrome (enol form)  (ISO)
doxorubicin  (ISO)
edaravone  (ISO)
enalapril  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
esculetin  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fructose  (ISO)
genistein  (ISO)
glucose  (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 arsenite  (ISO)
sodium chloride  (ISO)
spironolactone  (ISO)
streptozocin  (ISO)
taurine  (ISO)
telmisartan  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
triclosan  (EXP)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vinclozolin  (ISO)
XL147  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Candesartan cilexetil protects from cardiac myosin induced cardiotoxicity via reduction of endoplasmic reticulum stress and apoptosis in rats: involvement of ACE2-Ang (1-7)-mas axis. 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. Angiotensin II type 2 receptor deficiency aggravates renal injury and reduces survival in chronic kidney disease in mice. Benndorf RA, etal., Kidney Int. 2009 May;75(10):1039-49. Epub 2009 Feb 11.
3. Differential responses to salt supplementation in adult male and female rat adrenal glands following intrauterine growth restriction. Bibeau K, etal., J Endocrinol. 2011 Apr;209(1):85-94. Epub 2011 Feb 8.
4. Renal expression of angiotensin receptors in long-term diabetes and the effects of angiotensin type 1 receptor blockade. Bonnet F, etal., J Hypertens. 2002 Aug;20(8):1615-24.
5. Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution. Bose KS and Sarma RH, Biochem Biophys Res Commun 1975 Oct 27;66(4):1173-9.
6. Telmisartan Prevents Alveolar Bone Loss by Decreasing the Expression of Osteoclasts Markers in Hypertensive Rats With Periodontal Disease. Brito VGB, etal., Front Pharmacol. 2020 Nov 11;11:579926. doi: 10.3389/fphar.2020.579926. eCollection 2020.
7. Angiotensin type 2 receptor antagonism confers renal protection in a rat model of progressive renal injury. Cao Z, etal., J Am Soc Nephrol. 2002 Jul;13(7):1773-87.
8. Tubular expression of angiotensin II receptors and their regulation in IgA nephropathy. Chan LY, etal., J Am Soc Nephrol. 2005 Aug;16(8):2306-17. Epub 2005 Jun 1.
9. Upregulation of angiotensin II receptors in reflux nephropathy. Chertin B, etal., J Pediatr Surg. 2002 Feb;37(2):251-5.
10. Chronic infusion of angiotensin receptor antagonists in the hypothalamic paraventricular nucleus prevents hypertension in a rat model of sleep apnea. da Silva AQ, etal., Brain Res. 2011 Jan 12;1368:231-8. Epub 2010 Oct 30.
11. International union of pharmacology. XXIII. The angiotensin II receptors. de Gasparo M, etal., Pharmacol Rev. 2000 Sep;52(3):415-72.
12. Angiotensin-2 receptors (AT1-R and AT2-R), new prognostic factors for renal clear-cell carcinoma? Dolley-Hitze T, etal., Br J Cancer. 2010 Nov 23;103(11):1698-705.
13. Angiotensin II, via AT1 and AT2 receptors and NF-kappaB pathway, regulates the inflammatory response in unilateral ureteral obstruction. Esteban V, etal., J Am Soc Nephrol. 2004 Jun;15(6):1514-29.
14. Angiotensin-(1-9) attenuates cardiac fibrosis in the stroke-prone spontaneously hypertensive rat via the angiotensin type 2 receptor. Flores-Munoz M, etal., Hypertension. 2012 Feb;59(2):300-7. Epub 2011 Dec 19.
15. Imbalance of angiotensin type 1 receptor and angiotensin II type 2 receptor in the rostral ventrolateral medulla: potential mechanism for sympathetic overactivity in heart failure. Gao L, etal., Hypertension. 2008 Oct;52(4):708-14. Epub 2008 Sep 2.
16. Stimulation of AT2 receptor exerts beneficial effects in stroke-prone rats: focus on renal damage. Gelosa P, etal., J Hypertens. 2009 Dec;27(12):2444-51.
17. The role of the renin-angiotensin system in cholesterol and puromycin mediated renal injury. Ghosh S, etal., Am J Med Sci. 2002 Dec;324(6):296-304.
18. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
19. Expression and role of angiotensin II type 2 receptor in the kidney and mesangial cells of spontaneously hypertensive rats. Goto M, etal., Hypertens Res. 2002 Jan;25(1):125-33.
20. Implication of genetic variations in congenital obstructive nephropathy. Hahn H, etal., Pediatr Nephrol. 2005 Nov;20(11):1541-4. Epub 2005 Aug 25.
21. Candesartan cilexetil improves angiotensin II type 2 receptor-mediated neurite outgrowth via the PI3K-Akt pathway in fructose-induced insulin-resistant rats. Hashikawa-Hobara N, etal., Diabetes. 2012 Apr;61(4):925-32. Epub 2012 Feb 22.
22. Maternal Tryptophan Supplementation Protects Adult Rat Offspring against Hypertension Programmed by Maternal Chronic Kidney Disease: Implication of Tryptophan-Metabolizing Microbiome and Aryl Hydrocarbon Receptor. Hsu CN, etal., Int J Mol Sci. 2020 Jun 26;21(12):4552. doi: 10.3390/ijms21124552.
23. Effects on blood pressure and exploratory behaviour of mice lacking angiotensin II type-2 receptor. Ichiki T, etal., Nature 1995 Oct 26;377(6551):748-50.
24. Cardiovascular and renal function of angiotensin II type-2 receptors. Johren O, etal., Cardiovasc Res. 2004 Jun 1;62(3):460-7.
25. Role of intra-renal angiotensin system activation, oxidative stress, inflammation and impaired Nrf2 activity in the progression of focal glomerulosclerosis. Kim HJ, etal., J Pharmacol Exp Ther. 2011 Feb 25.
26. Association of angiotensin converting enzyme and angiotensin type 2 receptor gene polymorphisms with renal damage in posterior urethral valves. Laksmi NK, etal., J Pediatr Urol. 2010 Dec;6(6):560-6. Epub 2010 Feb 10.
27. Regulation and expression of a renin-angiotensin system in human pancreas and pancreatic endocrine tumours. Lam KY and Leung PS, Eur J Endocrinol. 2002 Apr;146(4):567-72.
28. Upregulation of AT2 receptor and iNOS impairs angiotensin II-induced contraction without endothelium influence in young normotensive diabetic rats. Lee JH, etal., Am J Physiol Regul Integr Comp Physiol. 2008 Jul;295(1):R144-54. Epub 2008 May 7.
29. Neuroprotective effect of an angiotensin receptor type 2 agonist following cerebral ischemia in vitro and in vivo. Lee S, etal., Exp Transl Stroke Med. 2012 Aug 24;4(1):16.
30. Hypoxic preconditioning induces an AT2-R/VEGFR-2(Flk-1) interaction in the neonatal brain microvasculature for neuroprotection. Lopez-Aguilera F, etal., Neuroscience. 2012 Aug 2;216:1-9. Epub 2012 May 6.
31. Angiotensin II receptor blockade inhibits pneumocyte apoptosis in experimental meconium aspiration. Lukkarinen H, etal., Pediatr Res. 2004 Feb;55(2):326-33. Epub 2003 Nov 6.
32. Angiotensin AT(2) receptor stimulation inhibits early renal inflammation in renovascular hypertension. Matavelli LC, etal., Hypertension. 2011 Feb;57(2):308-13. Epub 2010 Dec 28.
33. Angiotensin AT2 receptor stimulation causes neuroprotection in a conscious rat model of stroke. McCarthy CA, etal., Stroke. 2009 Apr;40(4):1482-9. Epub 2009 Feb 26.
34. Angiotensin II receptor blockade inhibits acute glomerular injuries with the alteration of receptor expression. Mii A, etal., Lab Invest. 2009 Feb;89(2):164-77. Epub 2009 Jan 12.
35. Impact of angiotensin II type 2 receptor blockade on experimental radiation nephropathy. Moulder JE, etal., Radiat Res. 2004 Mar;161(3):312-7.
36. Angiotensin type 2 receptor actions contribute to angiotensin type 1 receptor blocker effects on kidney fibrosis. Naito T, etal., Am J Physiol Renal Physiol. 2010 Mar;298(3):F683-91. Epub 2009 Dec 30.
37. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Nishimura H, etal., Mol Cell 1999 Jan;3(1):1-10.
38. Local fetal lung renin-angiotensin system as a target to treat congenital diaphragmatic hernia. Nogueira-Silva C, etal., Mol Med. 2012 Mar 27;18(1):231-43. doi: 10.2119/molmed.2011.00210.
39. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
40. AT2 receptors: beneficial counter-regulatory role in cardiovascular and renal function. Padia SH and Carey RM, Pflugers Arch. 2013 Jan;465(1):99-110. doi: 10.1007/s00424-012-1146-3. Epub 2012 Sep 5.
41. Renal angiotensin type 2 receptors mediate natriuresis via angiotensin III in the angiotensin II type 1 receptor-blocked rat. Padia SH, etal., Hypertension. 2006 Mar;47(3):537-44. Epub 2005 Dec 27.
42. Angiotensin II type 2 receptors and nitric oxide sustain oxygenation in the clipped kidney of early Goldblatt hypertensive rats. Palm F, etal., Hypertension. 2008 Feb;51(2):345-51. Epub 2007 Dec 24.
43. Genetic variation and activity of the renin-angiotensin system and severe hypoglycemia in type 1 diabetes. Pedersen-Bjergaard U, etal., Am J Med. 2008 Mar;121(3):246.e1-8.
44. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
45. Angiotensin III: a central regulator of vasopressin release and blood pressure. Reaux A, etal., Trends Endocrinol Metab. 2001 May-Jun;12(4):157-62.
46. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
47. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
48. Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies. Rigoli L, etal., Pediatr Res. 2004 Dec;56(6):988-93. Epub 2004 Oct 6.
49. The renin-angiotensin system contributes to renal fibrosis through regulation of fibrocytes. Sakai N, etal., J Hypertens. 2008 Apr;26(4):780-90.
50. A novel angiotensin II type 2 receptor signaling pathway: possible role in cardiac hypertrophy. Senbonmatsu T, etal., EMBO J. 2003 Dec 15;22(24):6471-82.
51. Chronic angiotensin (1-7) injection accelerates STZ-induced diabetic renal injury. Shao Y, etal., Acta Pharmacol Sin. 2008 Jul;29(7):829-37.
52. Receptor for AGEs (RAGE) blockade may exert its renoprotective effects in patients with diabetic nephropathy via induction of the angiotensin II type 2 (AT2) receptor. Sourris KC, etal., Diabetologia. 2010 Nov;53(11):2442-51. Epub 2010 Jul 15.
53. Angiotensin II type 2 receptor is upregulated in human heart with interstitial fibrosis, and cardiac fibroblasts are the major cell type for its expression. Tsutsumi Y, etal., Circ Res. 1998 Nov 16;83(10):1035-46.
54. Blood pressure and renal hemodynamic responses to acute angiotensin II infusion are enhanced in a female mouse model of systemic lupus erythematosus. Venegas-Pont M, etal., Am J Physiol Regul Integr Comp Physiol. 2011 Nov;301(5):R1286-92. Epub 2011 Sep 7.
55. AGTR2 mutations in X-linked mental retardation. Vervoort VS, etal., Science 2002 Jun 28;296(5577):2401-3.
56. Effect of valsartan on the expression of angiotensin II receptors in the lung of chronic antigen exposure rats. Wang T, etal., Chin Med J (Engl). 2008 Nov 20;121(22):2312-9.
57. Angiotensin II type 2 receptor antagonist reduces bleomycin-induced pulmonary fibrosis in mice. Waseda Y, etal., Respir Res. 2008 May 23;9:43.
58. Time-dependent expression of renal vaso-regulatory molecules in LPS-induced endotoxemia in rat. Yamaguchi N, etal., Peptides. 2006 Sep;27(9):2258-70. Epub 2006 May 24.
59. Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux. Yoneda A, etal., J Urol. 2002 Sep;168(3):1138-41.
60. Association of angiotensin II type 2 receptor gene A1818T polymorphism with progression of immunoglobulin A nephropathy in Korean patients. Yoon HJ, etal., J Korean Med Sci. 2009 Jan;24 Suppl:S38-43. Epub 2009 Jan 28.
61. Deletion of the angiotensin type 2 receptor (AT2R) reduces adipose cell size and protects from diet-induced obesity and insulin resistance. Yvan-Charvet L, etal., Diabetes. 2005 Apr;54(4):991-9.
62. Regulation of angiotensin-(1-7) and angiotensin II type 1 receptor by telmisartan and losartan in adriamycin-induced rat heart failure. 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: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:31899086   PMID:31989676   PMID:32250244   PMID:32336612   PMID:32451494   PMID:32633718   PMID:32661792   PMID:32669569   PMID:32750889  
PMID:33758348   PMID:34043993   PMID:34175388   PMID:34365920   PMID:34428252   PMID:35486619   PMID:35885894   PMID:36226438   PMID:37455310   PMID:37823205   PMID:38061417  


Genomics

Comparative Map Data
AGTR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X116,170,744 - 116,174,974 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX116,170,744 - 116,174,974 (+)EnsemblGRCh38hg38GRCh38
GRCh37X115,301,997 - 115,306,227 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X115,215,986 - 115,220,253 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X115,113,884 - 115,117,702NCBI
CeleraX115,832,555 - 115,836,822 (-)NCBICelera
Cytogenetic MapXq23NCBI
HuRefX104,838,955 - 104,843,260 (+)NCBIHuRef
CHM1_1X115,212,791 - 115,217,059 (+)NCBICHM1_1
T2T-CHM13v2.0X114,580,328 - 114,584,558 (+)NCBIT2T-CHM13v2.0
Agtr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X21,350,863 - 21,355,072 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX21,350,783 - 21,355,403 (+)EnsemblGRCm39 Ensembl
GRCm38X21,484,624 - 21,488,833 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX21,484,544 - 21,489,164 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X21,061,752 - 21,065,957 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X20,641,585 - 20,646,123 (+)NCBIMGSCv36mm8
CeleraX19,607,387 - 19,611,593 (+)NCBICelera
Cytogenetic MapXA2NCBI
cM MapX16.71NCBI
Agtr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X116,914,320 - 116,918,504 (+)NCBIGRCr8
mRatBN7.2X112,119,876 - 112,124,060 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX112,120,228 - 112,124,057 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX114,138,672 - 114,139,763 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X117,629,475 - 117,630,566 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X115,194,251 - 115,195,342 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X119,389,480 - 119,393,845 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX119,390,013 - 119,393,842 (+)EnsemblRnor6.0rn6Rnor6.0
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
NHGRI_mPanPan1-v2X115,602,235 - 115,606,464 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X115,605,843 - 115,610,072 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X105,252,903 - 105,257,171 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X115,670,022 - 115,674,287 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX115,671,594 - 115,672,685 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X90,431,596 - 90,435,944 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX90,433,258 - 90,434,346 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X87,892,846 - 87,897,203 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X89,651,006 - 89,655,363 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X89,385,692 - 89,390,050 (+)NCBIUU_Cfam_GSD_1.0
Agtr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X87,731,904 - 87,736,189 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647913,252,678 - 13,255,570 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606528,955,602 - 28,958,335 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agtr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624967329,284 - 330,372 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624967327,627 - 332,000 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGTR2
35 total Variants

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 Inborn genetic diseases [RCV002316191]|Intellectual disability, X-linked 88 [RCV000604777]|not provided [RCV000088651]|not specified [RCV000116283] ChrX:116172342 [GRCh38]
ChrX:115303595 [GRCh37]
ChrX:Xq23
benign|likely benign|conflicting interpretations of pathogenicity|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 Inborn genetic diseases [RCV002381397]|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
likely benign|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|uncertain significance
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 Inborn genetic diseases [RCV002318883]|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 Inborn genetic diseases [RCV002318882]|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 Autism [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
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [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 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28
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
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) copy number gain not specified [RCV002053166] ChrX:101982475..116885339 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000686.5(AGTR2):c.812C>T (p.Pro271Leu) single nucleotide variant Inborn genetic diseases [RCV002421321] ChrX:116173092 [GRCh38]
ChrX:115304345 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24
pathogenic
NM_000686.5(AGTR2):c.926C>A (p.Thr309Asn) single nucleotide variant Inborn genetic diseases [RCV003287292] ChrX:116173206 [GRCh38]
ChrX:115304459 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.86A>G (p.Asn29Ser) single nucleotide variant Inborn genetic diseases [RCV002449716] ChrX:116172366 [GRCh38]
ChrX:115303619 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.440T>A (p.Ile147Asn) single nucleotide variant Inborn genetic diseases [RCV002333810] ChrX:116172720 [GRCh38]
ChrX:115303973 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.902C>T (p.Pro301Leu) single nucleotide variant Inborn genetic diseases [RCV002905452] ChrX:116173182 [GRCh38]
ChrX:115304435 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.550G>A (p.Val184Ile) single nucleotide variant Inborn genetic diseases [RCV002733573] ChrX:116172830 [GRCh38]
ChrX:115304083 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.76T>C (p.Ser26Pro) single nucleotide variant Inborn genetic diseases [RCV002870291] ChrX:116172356 [GRCh38]
ChrX:115303609 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.314C>G (p.Ser105Cys) single nucleotide variant Inborn genetic diseases [RCV002737894] ChrX:116172594 [GRCh38]
ChrX:115303847 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.109C>G (p.Gln37Glu) single nucleotide variant Inborn genetic diseases [RCV002986059] ChrX:116172389 [GRCh38]
ChrX:115303642 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.665T>C (p.Ile222Thr) single nucleotide variant Inborn genetic diseases [RCV002702827] ChrX:116172945 [GRCh38]
ChrX:115304198 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.211T>A (p.Cys71Ser) single nucleotide variant Inborn genetic diseases [RCV002674572]|not provided [RCV003434674] ChrX:116172491 [GRCh38]
ChrX:115303744 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
NM_000686.5(AGTR2):c.601C>T (p.Pro201Ser) single nucleotide variant Inborn genetic diseases [RCV002807873] ChrX:116172881 [GRCh38]
ChrX:115304134 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.711C>G (p.His237Gln) single nucleotide variant Inborn genetic diseases [RCV003258210] ChrX:116172991 [GRCh38]
ChrX:115304244 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.145A>G (p.Ile49Val) single nucleotide variant Inborn genetic diseases [RCV003309343] ChrX:116172425 [GRCh38]
ChrX:115303678 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25
pathogenic
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2 copy number gain not provided [RCV003483973] ChrX:110921170..124327177 [GRCh37]
ChrX:Xq23-25
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24
pathogenic
NM_000686.5(AGTR2):c.236C>G (p.Ser79Cys) single nucleotide variant not provided [RCV003489542] ChrX:116172516 [GRCh38]
ChrX:115303769 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.403dup (p.Ile135fs) duplication not provided [RCV003489545] ChrX:116172682..116172683 [GRCh38]
ChrX:115303935..115303936 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.411C>A (p.Cys137Ter) single nucleotide variant not provided [RCV003489543] ChrX:116172691 [GRCh38]
ChrX:115303944 [GRCh37]
ChrX:Xq23
uncertain significance
NM_000686.5(AGTR2):c.402dup (p.Ile135fs) duplication not provided [RCV003489544] ChrX:116172674..116172675 [GRCh38]
ChrX:115303927..115303928 [GRCh37]
ChrX:Xq23
uncertain significance
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.

Markers in Region
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


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
  CP068255 (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

RefSeq Acc Id: ENST00000371906   ⟹   ENSP00000360973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX116,170,744 - 116,174,974 (+)Ensembl
RefSeq Acc Id: ENST00000680409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX116,171,813 - 116,173,430 (+)Ensembl
RefSeq Acc Id: ENST00000681852   ⟹   ENSP00000505750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X114,580,328 - 114,584,558 (+)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
T2T-CHM13v2.0X114,580,328 - 114,584,558 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000677   ⟸   NM_000686
- Peptide Label: isoform 1
- UniProtKB: Q13016 (UniProtKB/Swiss-Prot),   B2R9V1 (UniProtKB/Swiss-Prot),   Q6FGY7 (UniProtKB/Swiss-Prot),   P50052 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360973   ⟸   ENST00000371906
RefSeq Acc Id: NP_001372553   ⟸   NM_001385624
- Peptide Label: isoform 1
- UniProtKB: Q13016 (UniProtKB/Swiss-Prot),   P50052 (UniProtKB/Swiss-Prot),   B2R9V1 (UniProtKB/Swiss-Prot),   Q6FGY7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000505750   ⟸   ENST00000681852

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AT2 I-TASSER model P50052 1-363 view protein structure
AF-P50052-F1-model_v2 AlphaFold 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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:338 AgrOrtholog
COSMIC AGTR2 COSMIC
Ensembl Genes ENSG00000180772 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371906 ENTREZGENE
  ENST00000371906.5 UniProtKB/Swiss-Prot
  ENST00000681852 ENTREZGENE
  ENST00000681852.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
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
PANTHER CELL ADHESION MOLECULE UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
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
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt AGTR2_HUMAN UniProtKB/Swiss-Prot
  B2R9V1 ENTREZGENE
  P50052 ENTREZGENE
  Q13016 ENTREZGENE
  Q6FGY7 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