ADORA2A (adenosine A2a receptor) - Rat Genome Database

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Gene: ADORA2A (adenosine A2a receptor) Homo sapiens
Analyze
Symbol: ADORA2A
Name: adenosine A2a receptor
RGD ID: 730999
HGNC Page HGNC
Description: Exhibits G protein-coupled adenosine receptor activity; enzyme binding activity; and identical protein binding activity. Involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Localizes to integral component of plasma membrane. Implicated in asthma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A2aR; adenosine A2 receptor; adenosine receptor A2a; adenosine receptor subtype A2a; ADORA2; hA2aR; RDC8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2224,417,879 - 24,442,357 (+)EnsemblGRCh38hg38GRCh38
GRCh382224,423,597 - 24,442,357 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372224,819,565 - 24,838,325 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,153,530 - 23,168,325 (+)NCBINCBI36hg18NCBI36
Build 342223,153,645 - 23,162,878NCBI
Celera228,623,253 - 8,638,061 (+)NCBI
Cytogenetic Map22q11.23NCBI
HuRef227,769,458 - 7,788,241 (+)NCBIHuRef
CHM1_12224,778,238 - 24,796,999 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(D-Ala(2)-mephe(4)-gly-ol(5))enkephalin  (ISO)
(S)-AMPA  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
8-(3-chlorostyryl)caffeine  (ISO)
acetamide  (ISO)
acetylcholine  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (EXP)
adenosine  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (EXP,ISO)
aripiprazole  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
cadmium selenide  (EXP)
caffeine  (EXP,ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
CGS-21680  (EXP,ISO)
cisplatin  (EXP)
clozapine  (ISO)
cocaine  (ISO)
cordycepin  (ISO)
curcumin  (ISO)
cytidine  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dioxygen  (EXP,ISO)
doxorubicin  (ISO)
DPCPX  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
gamma-aminobutyric acid  (ISO)
graphite  (ISO)
guanosine 5'-[gamma-thio]triphosphate  (ISO)
haloperidol  (ISO)
istradefylline  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
methamphetamine  (EXP)
methotrexate  (EXP,ISO)
modafinil  (ISO)
morphine  (ISO)
Moxonidine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotine  (ISO)
nicotinic acid  (ISO)
ochratoxin A  (EXP)
orphenadrine  (ISO)
oxidopamine  (ISO)
ozone  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
pentetrazol  (ISO)
phencyclidine  (ISO)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
piroxicam  (EXP)
prazosin  (ISO)
prednisolone  (EXP)
propanal  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
rotenone  (ISO)
sarin  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium aurothiomalate  (EXP)
Soman  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
taurine  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IDA,ISO)
adenylate cyclase-modulating G protein-coupled receptor signaling pathway  (TAS)
apoptotic process  (TAS)
astrocyte activation  (IEA,ISO)
blood circulation  (TAS)
blood coagulation  (TAS)
cell-cell signaling  (TAS)
cellular defense response  (TAS)
cellular protein metabolic process  (TAS)
central nervous system development  (TAS)
eating behavior  (IEA,ISO)
excitatory postsynaptic potential  (IEA,ISO)
G protein-coupled adenosine receptor signaling pathway  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IEA,ISO,TAS)
inflammatory response  (TAS)
inhibitory postsynaptic potential  (ISO)
locomotory behavior  (IEA,ISO)
membrane depolarization  (IEA,ISO)
negative regulation of alpha-beta T cell activation  (ISO)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IEA,ISO)
negative regulation of inflammatory response  (ISO)
negative regulation of inflammatory response to antigenic stimulus  (TAS)
negative regulation of locomotion  (IEA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of protein kinase activity  (IEA,ISO)
negative regulation of vascular permeability  (IEA,ISO)
neuron projection morphogenesis  (IEA,ISO)
phagocytosis  (TAS)
positive regulation of acetylcholine secretion, neurotransmission  (IEA,ISO)
positive regulation of apoptotic signaling pathway  (ISO)
positive regulation of circadian sleep/wake cycle, sleep  (IEA,ISO)
positive regulation of glutamate secretion  (IEA,ISO)
positive regulation of long-term synaptic potentiation  (IEA,ISO)
positive regulation of protein secretion  (IEA,ISO)
positive regulation of renal sodium excretion  (IEA,ISO)
positive regulation of synaptic transmission, GABAergic  (ISO)
positive regulation of synaptic transmission, glutamatergic  (IEA,ISO)
positive regulation of urine volume  (IEA,ISO)
prepulse inhibition  (IEA,ISO)
protein kinase C-activating G protein-coupled receptor signaling pathway  (IEA,ISO)
regulation of calcium ion transport  (IEA,ISO)
regulation of mitochondrial membrane potential  (IEA,ISO)
regulation of norepinephrine secretion  (IEA,ISO)
regulation of synaptic vesicle exocytosis  (IEA)
regulation of transcription, DNA-templated  (IEA,ISO)
response to alkaloid  (ISO)
response to amphetamine  (ISO)
response to caffeine  (IEA,ISO)
response to drug  (IEA,ISO)
sensory perception  (TAS)
synaptic transmission, cholinergic  (IEA,ISO)
synaptic transmission, dopaminergic  (ISO)
synaptic transmission, glutamatergic  (IEA,ISO)
vasodilation  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
Seizure  (IAGP)
References

References - curated
1. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Bonneau O, etal., Am J Physiol Lung Cell Mol Physiol. 2006 May;290(5):L1036-43. Epub 2005 Dec 9.
3. Chen CM, etal., Crit Care Med. 2009 Jul;37(7):2235-41.
4. Duarte JM, etal., Neurochem Int. 2006 Jan;48(2):144-50. Epub 2005 Oct 26.
5. Ellman PI, etal., J Surg Res. 2008 Sep;149(1):3-8. Epub 2007 Sep 12.
6. GOA_HUMAN data from the GO Consortium
7. Hasko G, etal., Crit Care Med. 2006 Apr;34(4):1119-25.
8. Kim SH, etal., Respir Med. 2009 Mar;103(3):356-63. Epub 2008 Nov 18.
9. Lau CL, etal., Ann Thorac Surg. 2009 Oct;88(4):1071-8.
10. Ledent C, etal., Nature 1997 Aug 14;388(6643):674-8.
11. Mohsenin A, etal., Am J Physiol Lung Cell Mol Physiol. 2007 Sep;293(3):L753-61. Epub 2007 Jun 29.
12. Nadeem A, etal., Am J Physiol Lung Cell Mol Physiol. 2007 Jun;292(6):L1335-44. Epub 2007 Feb 9.
13. Ohta A and Sitkovsky M, Nature 2001 Dec 20-27;414(6866):916-20.
14. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
15. Pipeline to import SMPDB annotations from SMPDB into RGD
16. Ponnoth DS, etal., Am J Physiol Heart Circ Physiol. 2008 May;294(5):H2158-65. Epub 2008 Feb 29.
17. Reutershan J, etal., J Immunol. 2007 Jul 15;179(2):1254-63.
18. RGD automated import pipeline for gene-chemical interactions
19. Scheibner KA, etal., Am J Respir Cell Mol Biol. 2009 Mar;40(3):251-9. Epub 2008 Aug 14.
20. Sharma AK, etal., J Thorac Cardiovasc Surg. 2010 Feb;139(2):474-82. Epub 2009 Nov 11.
21. Wallace KL and Linden J, Blood. 2010 Dec 2;116(23):5010-20. Epub 2010 Aug 26.
22. Wright K, etal., J Hypertens. 2004 Aug;22(8):1519-22.
23. Zimmer MB and Goshgarian HG, Exp Neurol. 2007 Jul;206(1):137-45. Epub 2007 May 8.
Additional References at PubMed
PMID:1331670   PMID:1426003   PMID:1662665   PMID:1835521   PMID:2541503   PMID:7775460   PMID:7818494   PMID:8020991   PMID:8088373   PMID:8135838   PMID:8360491   PMID:8522976  
PMID:8670304   PMID:8794889   PMID:9369973   PMID:10051547   PMID:10326835   PMID:10391209   PMID:10899090   PMID:10945659   PMID:10951119   PMID:10974209   PMID:11125033   PMID:11140838  
PMID:11515749   PMID:11532976   PMID:11571652   PMID:11717194   PMID:11734617   PMID:11934694   PMID:12036966   PMID:12080047   PMID:12189203   PMID:12237741   PMID:12406340   PMID:12429726  
PMID:12477932   PMID:12634474   PMID:12784121   PMID:12804599   PMID:12825092   PMID:12837758   PMID:12856413   PMID:12933819   PMID:14525968   PMID:14666117   PMID:14702039   PMID:14715520  
PMID:15146197   PMID:15351206   PMID:15461468   PMID:15461802   PMID:15489334   PMID:15539641   PMID:15704067   PMID:15719154   PMID:15734651   PMID:15774265   PMID:15987888   PMID:16022683  
PMID:16027149   PMID:16118787   PMID:16184606   PMID:16280366   PMID:16339847   PMID:16344560   PMID:16361356   PMID:16481441   PMID:16805430   PMID:16818375   PMID:16824773   PMID:16917093  
PMID:16939974   PMID:16969271   PMID:17132707   PMID:17257240   PMID:17329997   PMID:17356572   PMID:17474152   PMID:17512749   PMID:17558310   PMID:17591446   PMID:17599669   PMID:17616786  
PMID:17689978   PMID:17872970   PMID:18057956   PMID:18197085   PMID:18215030   PMID:18218631   PMID:18240029   PMID:18246094   PMID:18305461   PMID:18331682   PMID:18434504   PMID:18442791  
PMID:18486613   PMID:18508500   PMID:18524886   PMID:18539621   PMID:18541693   PMID:18629431   PMID:18675812   PMID:18759349   PMID:18772204   PMID:18832607   PMID:18996102   PMID:19013155  
PMID:19019012   PMID:19086053   PMID:19156168   PMID:19159073   PMID:19262506   PMID:19287996   PMID:19303140   PMID:19386617   PMID:19508402   PMID:19525944   PMID:19538256   PMID:19541651  
PMID:19565319   PMID:19591938   PMID:19632986   PMID:19694902   PMID:19776336   PMID:19794965   PMID:19801629   PMID:19883624   PMID:19902562   PMID:19913121   PMID:19948975   PMID:20021407  
PMID:20029460   PMID:20045081   PMID:20085598   PMID:20089670   PMID:20197060   PMID:20334879   PMID:20354569   PMID:20371613   PMID:20386734   PMID:20392501   PMID:20396431   PMID:20413899  
PMID:20468064   PMID:20512606   PMID:20520601   PMID:20628086   PMID:20666933   PMID:20691427   PMID:20799992   PMID:20842321   PMID:20926384   PMID:21040702   PMID:21062422   PMID:21062644  
PMID:21088442   PMID:21256133   PMID:21258856   PMID:21281405   PMID:21335481   PMID:21393508   PMID:21480628   PMID:21486776   PMID:21501622   PMID:21542986   PMID:21550361   PMID:21590734  
PMID:21593763   PMID:21606452   PMID:21633321   PMID:21638125   PMID:21646447   PMID:21658325   PMID:21739164   PMID:21840298   PMID:21885291   PMID:21950736   PMID:21966389   PMID:22012471  
PMID:22033526   PMID:22079667   PMID:22119961   PMID:22130015   PMID:22146575   PMID:22170367   PMID:22213163   PMID:22217884   PMID:22238572   PMID:22240468   PMID:22249219   PMID:22333316  
PMID:22336631   PMID:22356216   PMID:22367999   PMID:22403020   PMID:22462821   PMID:22585593   PMID:22705363   PMID:22740769   PMID:22754043   PMID:22792196   PMID:22798613   PMID:22844517  
PMID:22923002   PMID:22940476   PMID:22963436   PMID:23005256   PMID:23071116   PMID:23093781   PMID:23168167   PMID:23171222   PMID:23193172   PMID:23241554   PMID:23296780   PMID:23332182  
PMID:23377438   PMID:23385980   PMID:23429888   PMID:23454349   PMID:23478188   PMID:23483627   PMID:23489072   PMID:23500543   PMID:23514445   PMID:23535492   PMID:23535933   PMID:23583199  
PMID:23593569   PMID:23594931   PMID:23657626   PMID:23663495   PMID:23678995   PMID:23679925   PMID:23682121   PMID:23685887   PMID:23695433   PMID:23749290   PMID:23789814   PMID:23856527  
PMID:23965991   PMID:24166702   PMID:24321892   PMID:24359090   PMID:24433848   PMID:24509856   PMID:24517244   PMID:24589267   PMID:24652540   PMID:24722188   PMID:24892887   PMID:24943643  
PMID:25175458   PMID:25203160   PMID:25262373   PMID:25285959   PMID:25384972   PMID:25445670   PMID:25473121   PMID:25573092   PMID:25622143   PMID:25629231   PMID:25644539   PMID:25720391  
PMID:25725488   PMID:25745823   PMID:25770019   PMID:25779930   PMID:25818344   PMID:25819143   PMID:25872644   PMID:25935416   PMID:25936513   PMID:25992797   PMID:26066465   PMID:26100888  
PMID:26264576   PMID:26317759   PMID:26355151   PMID:26539478   PMID:26589317   PMID:26710963   PMID:26810542   PMID:26873858   PMID:27038930   PMID:27043281   PMID:27144352   PMID:27167478  
PMID:27216911   PMID:27239843   PMID:27241126   PMID:27262510   PMID:27334985   PMID:27399166   PMID:27462812   PMID:27476546   PMID:27510168   PMID:27577981   PMID:27595240   PMID:27650530  
PMID:27666664   PMID:27846189   PMID:28060732   PMID:28102227   PMID:28130124   PMID:28135712   PMID:28179537   PMID:28215251   PMID:28298427   PMID:28418405   PMID:28441750   PMID:28548944  
PMID:28606618   PMID:28734904   PMID:28743501   PMID:28921456   PMID:28941407   PMID:28984574   PMID:29126977   PMID:29217157   PMID:29229601   PMID:29524036   PMID:29552726   PMID:29568380  
PMID:29593213   PMID:29636462   PMID:29726815   PMID:29729889   PMID:30511252   PMID:30513523   PMID:30581046   PMID:30629951   PMID:30633335   PMID:30664812   PMID:30713025   PMID:30940903  
PMID:30946941   PMID:31275983   PMID:31286866   PMID:31324842   PMID:31340557   PMID:31444994   PMID:31578448   PMID:31599329   PMID:31614517   PMID:31817803   PMID:32182774   PMID:32296183  
PMID:32298258   PMID:32367186   PMID:32432317   PMID:32488862   PMID:32709103   PMID:33027906   PMID:33233484  


Genomics

Comparative Map Data
ADORA2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2224,417,879 - 24,442,357 (+)EnsemblGRCh38hg38GRCh38
GRCh382224,423,597 - 24,442,357 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372224,819,565 - 24,838,325 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,153,530 - 23,168,325 (+)NCBINCBI36hg18NCBI36
Build 342223,153,645 - 23,162,878NCBI
Celera228,623,253 - 8,638,061 (+)NCBI
Cytogenetic Map22q11.23NCBI
HuRef227,769,458 - 7,788,241 (+)NCBIHuRef
CHM1_12224,778,238 - 24,796,999 (+)NCBICHM1_1
Adora2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391075,152,711 - 75,170,626 (+)NCBIGRCm39mm39
GRCm39 Ensembl1075,152,711 - 75,170,618 (+)Ensembl
GRCm381075,316,877 - 75,334,792 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1075,316,877 - 75,334,784 (+)EnsemblGRCm38mm10GRCm38
MGSCv371074,779,688 - 74,797,533 (+)NCBIGRCm37mm9NCBIm37
MGSCv361074,769,745 - 74,777,652 (+)NCBImm8
Celera1076,364,032 - 76,382,114 (+)NCBICelera
Cytogenetic Map10C1NCBI
Adora2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22013,315,848 - 13,333,386 (-)NCBI
Rnor_6.0 Ensembl2014,265,252 - 14,282,873 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02014,265,251 - 14,282,873 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02016,449,385 - 16,466,147 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42013,815,719 - 13,834,131 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12013,815,944 - 13,825,845 (-)NCBI
Celera2014,801,379 - 14,818,841 (-)NCBICelera
Cytogenetic Map20p12NCBI
Adora2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554557,895,974 - 7,906,505 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554557,886,720 - 7,906,214 (+)NCBIChiLan1.0ChiLan1.0
ADORA2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12222,099,404 - 22,114,189 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2222,104,253 - 22,114,189 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0225,233,876 - 5,248,622 (+)NCBIMhudiblu_PPA_v0panPan3
ADORA2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12628,141,076 - 28,150,600 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2628,141,076 - 28,150,598 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2627,207,866 - 27,225,894 (+)NCBI
ROS_Cfam_1.02629,536,347 - 29,554,384 (+)NCBI
UMICH_Zoey_3.12627,619,698 - 27,637,726 (+)NCBI
UNSW_CanFamBas_1.02627,237,300 - 27,255,320 (+)NCBI
UU_Cfam_GSD_1.02628,226,384 - 28,244,417 (+)NCBI
Adora2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118142,136,447 - 142,156,176 (-)NCBI
SpeTri2.0NW_004936619597,970 - 618,564 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADORA2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1449,468,862 - 49,485,841 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11449,467,186 - 49,485,845 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21452,914,635 - 52,931,654 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADORA2A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1197,691,678 - 7,706,781 (-)NCBI
ChlSab1.1 Ensembl197,691,536 - 7,706,926 (-)Ensembl
Adora2a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247479,846,254 - 9,860,938 (+)NCBI

Position Markers
ADORA2A_7742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,837,494 - 24,838,408UniSTSGRCh37
Build 362223,167,494 - 23,168,408RGDNCBI36
Celera228,637,229 - 8,638,144RGD
HuRef227,787,406 - 7,788,321UniSTS
ADORA2A  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,837,564 - 24,837,754UniSTSGRCh37
Build 362223,167,564 - 23,167,754RGDNCBI36
Celera228,637,299 - 8,637,489RGD
HuRef227,787,476 - 7,787,666UniSTS
WI-18996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,837,636 - 24,837,888UniSTSGRCh37
Build 362223,167,636 - 23,167,888RGDNCBI36
Celera228,637,371 - 8,637,623RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,787,548 - 7,787,800UniSTS
GeneMap99-GB4 RH Map2249.55UniSTS
Whitehead-RH Map2260.9UniSTS
NCBI RH Map2266.9UniSTS
G27964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,835,617 - 24,835,745UniSTSGRCh37
Build 362223,165,617 - 23,165,745RGDNCBI36
Celera228,635,352 - 8,635,480RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,785,529 - 7,785,657UniSTS
D22S1263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,837,466 - 24,837,795UniSTSGRCh37
Build 362223,167,466 - 23,167,795RGDNCBI36
Celera228,637,201 - 8,637,530RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,787,378 - 7,787,707UniSTS
GeneMap99-GB4 RH Map2279.3UniSTS
Whitehead-RH Map2245.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3959
Count of miRNA genes:1006
Interacting mature miRNAs:1209
Transcripts:ENST00000337539, ENST00000424232, ENST00000436735, ENST00000439591, ENST00000444262, ENST00000464977, ENST00000467385, ENST00000472248, ENST00000486108, ENST00000486351, ENST00000496258, ENST00000496497
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 adipose tissue appendage entire extraembryonic component
High
Medium 58 677 81 5 868 5 3 7 745 11 29 389 1 3 3
Low 2193 2296 1517 549 929 388 4043 2120 2879 198 1164 947 164 1200 2753
Below cutoff 128 6 110 61 136 64 272 60 86 171 197 239 6 1 32 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH003248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY136747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG686029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA307692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN408252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA270141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA687739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA781734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA942067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA983859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU036687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU036688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU036689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU036690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU036691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU036692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU036693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU036694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY102778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY249059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337539   ⟹   ENSP00000336630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,427,599 - 24,442,357 (+)Ensembl
RefSeq Acc Id: ENST00000424232   ⟹   ENSP00000404497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,423,597 - 24,433,667 (+)Ensembl
RefSeq Acc Id: ENST00000436735   ⟹   ENSP00000397071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,432,167 - 24,433,597 (+)Ensembl
RefSeq Acc Id: ENST00000439591   ⟹   ENSP00000400190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,432,840 - 24,433,634 (+)Ensembl
RefSeq Acc Id: ENST00000444262   ⟹   ENSP00000414802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,424,409 - 24,441,345 (+)Ensembl
RefSeq Acc Id: ENST00000464977   ⟹   ENSP00000474895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,424,398 - 24,433,423 (+)Ensembl
RefSeq Acc Id: ENST00000467385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,417,879 - 24,433,192 (+)Ensembl
RefSeq Acc Id: ENST00000472248   ⟹   ENSP00000475000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,432,119 - 24,433,492 (+)Ensembl
RefSeq Acc Id: ENST00000486108   ⟹   ENSP00000473799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,423,631 - 24,433,729 (+)Ensembl
RefSeq Acc Id: ENST00000486351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,422,488 - 24,433,208 (+)Ensembl
RefSeq Acc Id: ENST00000496258   ⟹   ENSP00000474097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,427,562 - 24,433,654 (+)Ensembl
RefSeq Acc Id: ENST00000496497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,427,627 - 24,441,173 (+)Ensembl
RefSeq Acc Id: ENST00000610595   ⟹   ENSP00000480012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,432,119 - 24,442,356 (+)Ensembl
RefSeq Acc Id: ENST00000611543   ⟹   ENSP00000483102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,423,597 - 24,442,356 (+)Ensembl
RefSeq Acc Id: ENST00000618076   ⟹   ENSP00000481552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,432,119 - 24,442,356 (+)Ensembl
RefSeq Acc Id: NM_000675   ⟹   NP_000666
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,427,599 - 24,442,357 (+)NCBI
GRCh372224,819,565 - 24,838,328 (+)NCBI
Build 362223,153,530 - 23,168,325 (+)NCBI Archive
HuRef227,769,458 - 7,788,241 (+)NCBI
CHM1_12224,782,200 - 24,796,999 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278497   ⟹   NP_001265426
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,432,248 - 24,442,357 (+)NCBI
GRCh372224,819,565 - 24,838,328 (+)NCBI
HuRef227,769,458 - 7,788,241 (+)NCBI
CHM1_12224,786,757 - 24,796,999 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278498   ⟹   NP_001265427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,432,248 - 24,442,357 (+)NCBI
GRCh372224,819,565 - 24,838,328 (+)NCBI
HuRef227,769,458 - 7,788,241 (+)NCBI
CHM1_12224,786,757 - 24,796,999 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278499   ⟹   NP_001265428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,427,599 - 24,442,357 (+)NCBI
GRCh372224,819,565 - 24,838,328 (+)NCBI
HuRef227,769,458 - 7,788,241 (+)NCBI
CHM1_12224,782,200 - 24,796,999 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278500   ⟹   NP_001265429
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,423,597 - 24,442,357 (+)NCBI
HuRef227,769,458 - 7,788,241 (+)NCBI
CHM1_12224,778,238 - 24,796,999 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103543
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,427,599 - 24,442,357 (+)NCBI
GRCh372224,819,565 - 24,838,328 (+)NCBI
HuRef227,769,458 - 7,788,241 (+)NCBI
CHM1_12224,782,200 - 24,796,999 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103544
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,427,599 - 24,442,357 (+)NCBI
GRCh372224,819,565 - 24,838,328 (+)NCBI
HuRef227,769,458 - 7,788,241 (+)NCBI
CHM1_12224,782,200 - 24,796,999 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000666 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265426 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265427 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265428 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265429 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA58356 (Get FASTA)   NCBI Sequence Viewer  
  AAA83270 (Get FASTA)   NCBI Sequence Viewer  
  AAB18370 (Get FASTA)   NCBI Sequence Viewer  
  AAH13780 (Get FASTA)   NCBI Sequence Viewer  
  AAN01273 (Get FASTA)   NCBI Sequence Viewer  
  AAP35645 (Get FASTA)   NCBI Sequence Viewer  
  ABS89237 (Get FASTA)   NCBI Sequence Viewer  
  ABS89238 (Get FASTA)   NCBI Sequence Viewer  
  ABS89239 (Get FASTA)   NCBI Sequence Viewer  
  ABS89240 (Get FASTA)   NCBI Sequence Viewer  
  ABS89241 (Get FASTA)   NCBI Sequence Viewer  
  ABS89242 (Get FASTA)   NCBI Sequence Viewer  
  ABS89243 (Get FASTA)   NCBI Sequence Viewer  
  ABS89244 (Get FASTA)   NCBI Sequence Viewer  
  AHW56401 (Get FASTA)   NCBI Sequence Viewer  
  BAF82560 (Get FASTA)   NCBI Sequence Viewer  
  BAG35787 (Get FASTA)   NCBI Sequence Viewer  
  BAG53866 (Get FASTA)   NCBI Sequence Viewer  
  BAG62949 (Get FASTA)   NCBI Sequence Viewer  
  CAG30253 (Get FASTA)   NCBI Sequence Viewer  
  CBX47617 (Get FASTA)   NCBI Sequence Viewer  
  EAW59658 (Get FASTA)   NCBI Sequence Viewer  
  P29274 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000666   ⟸   NM_000675
- UniProtKB: P29274 (UniProtKB/Swiss-Prot),   B3KVQ4 (UniProtKB/TrEMBL),   X5DNB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265429   ⟸   NM_001278500
- UniProtKB: P29274 (UniProtKB/Swiss-Prot),   X5DNB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265428   ⟸   NM_001278499
- UniProtKB: P29274 (UniProtKB/Swiss-Prot),   X5DNB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265426   ⟸   NM_001278497
- UniProtKB: P29274 (UniProtKB/Swiss-Prot),   A8K1F6 (UniProtKB/TrEMBL),   X5DNB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265427   ⟸   NM_001278498
- UniProtKB: P29274 (UniProtKB/Swiss-Prot),   A8K1F6 (UniProtKB/TrEMBL),   X5DNB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000404497   ⟸   ENST00000424232
RefSeq Acc Id: ENSP00000400190   ⟸   ENST00000439591
RefSeq Acc Id: ENSP00000474895   ⟸   ENST00000464977
RefSeq Acc Id: ENSP00000480012   ⟸   ENST00000610595
RefSeq Acc Id: ENSP00000483102   ⟸   ENST00000611543
RefSeq Acc Id: ENSP00000336630   ⟸   ENST00000337539
RefSeq Acc Id: ENSP00000474097   ⟸   ENST00000496258
RefSeq Acc Id: ENSP00000414802   ⟸   ENST00000444262
RefSeq Acc Id: ENSP00000473799   ⟸   ENST00000486108
RefSeq Acc Id: ENSP00000481552   ⟸   ENST00000618076
RefSeq Acc Id: ENSP00000475000   ⟸   ENST00000472248
RefSeq Acc Id: ENSP00000397071   ⟸   ENST00000436735
Protein Domains
G_PROTEIN_RECEP_F1_2

Promoters
RGD ID:6799656
Promoter ID:HG_KWN:42034
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000319972,   OTTHUMT00000319975,   OTTHUMT00000319976,   OTTHUMT00000319984
Position:
Human AssemblyChrPosition (strand)Source
Build 362223,149,784 - 23,150,284 (+)MPROMDB
RGD ID:6799657
Promoter ID:HG_KWN:42035
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000319971,   OTTHUMT00000319974,   OTTHUMT00000319985
Position:
Human AssemblyChrPosition (strand)Source
Build 362223,153,336 - 23,153,836 (+)MPROMDB
RGD ID:6800481
Promoter ID:HG_KWN:42037
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000406084,   OTTHUMT00000319978,   OTTHUMT00000319979,   OTTHUMT00000319982,   UC003AAB.1,   UC003AAC.1,   UC010GUN.1,   UC010GUO.1,   UC010GUP.1,   UC010GUQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362223,158,156 - 23,159,592 (+)MPROMDB
RGD ID:13603488
Promoter ID:EPDNEW_H27928
Type:initiation region
Name:ADORA2A_2
Description:adenosine A2a receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27929  EPDNEW_H27930  EPDNEW_H27931  EPDNEW_H27933  EPDNEW_H27932  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,423,631 - 24,423,691EPDNEW
RGD ID:13603490
Promoter ID:EPDNEW_H27929
Type:initiation region
Name:ADORA2A_1
Description:adenosine A2a receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27928  EPDNEW_H27930  EPDNEW_H27931  EPDNEW_H27933  EPDNEW_H27932  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,423,932 - 24,423,992EPDNEW
RGD ID:13603492
Promoter ID:EPDNEW_H27930
Type:multiple initiation site
Name:ADORA2A_4
Description:adenosine A2a receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27928  EPDNEW_H27929  EPDNEW_H27931  EPDNEW_H27933  EPDNEW_H27932  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,424,223 - 24,424,283EPDNEW
RGD ID:13603494
Promoter ID:EPDNEW_H27931
Type:initiation region
Name:ADORA2A_3
Description:adenosine A2a receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27928  EPDNEW_H27929  EPDNEW_H27930  EPDNEW_H27933  EPDNEW_H27932  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,427,600 - 24,427,660EPDNEW
RGD ID:13603498
Promoter ID:EPDNEW_H27932
Type:initiation region
Name:ADORA2A_5
Description:adenosine A2a receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27928  EPDNEW_H27929  EPDNEW_H27930  EPDNEW_H27931  EPDNEW_H27933  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,432,248 - 24,432,308EPDNEW
RGD ID:13603496
Promoter ID:EPDNEW_H27933
Type:initiation region
Name:ADORA2A_6
Description:adenosine A2a receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27928  EPDNEW_H27929  EPDNEW_H27930  EPDNEW_H27931  EPDNEW_H27932  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,432,867 - 24,432,927EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.23(chr22:23720171-25065576) copy number gain Cerebellar ataxia [RCV000626496] Chr22:23720171..25065576 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 copy number gain See cases [RCV000053174] Chr22:23338443..24610403 [GRCh38]
Chr22:23680630..25006370 [GRCh37]
Chr22:22010630..23336370 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 copy number gain See cases [RCV000053175] Chr22:23338443..24577664 [GRCh38]
Chr22:23680630..24973632 [GRCh37]
Chr22:22010630..23303632 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 copy number gain See cases [RCV000053176] Chr22:23354221..24541945 [GRCh38]
Chr22:23696408..24937913 [GRCh37]
Chr22:22026408..23267913 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 copy number gain See cases [RCV000053177] Chr22:23369950..24669609 [GRCh38]
Chr22:23712137..25065576 [GRCh37]
Chr22:22042137..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 copy number gain See cases [RCV000053178] Chr22:23377784..24564000 [GRCh38]
Chr22:23719971..24959968 [GRCh37]
Chr22:22049971..23289968 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000053179] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] Chr22:23377984..24669609 [GRCh38]
Chr22:23720171..25065576 [GRCh37]
Chr22:22050171..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 copy number gain See cases [RCV000053182] Chr22:23414627..24563859 [GRCh38]
Chr22:23756814..24959827 [GRCh37]
Chr22:22086814..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 copy number gain See cases [RCV000053164] Chr22:23285152..24723136 [GRCh38]
Chr22:23627339..25119103 [GRCh37]
Chr22:21957339..23449103 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_000675.6(ADORA2A):c.-275+1797C>T single nucleotide variant caffeine response - Toxicity/ADR [RCV000660765] Chr22:24429543 [GRCh38]
Chr22:24825511 [GRCh37]
Chr22:22q11.23
drug response
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 copy number gain See cases [RCV000137701] Chr22:23311976..24644628 [GRCh38]
Chr22:23654163..25040595 [GRCh37]
Chr22:21984163..23370595 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 copy number gain See cases [RCV000137178] Chr22:23804407..24669609 [GRCh38]
Chr22:24146594..25065576 [GRCh37]
Chr22:22476594..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3
pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 copy number gain See cases [RCV000137995] Chr22:23311976..24600238 [GRCh38]
Chr22:23654163..24996205 [GRCh37]
Chr22:21984163..23326205 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 copy number gain See cases [RCV000139440] Chr22:23311976..24669609 [GRCh38]
Chr22:23654163..25065576 [GRCh37]
Chr22:21984163..23395576 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 copy number gain See cases [RCV000141802] Chr22:23308686..24647020 [GRCh38]
Chr22:23650873..25042987 [GRCh37]
Chr22:21980873..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 copy number gain See cases [RCV000143627] Chr22:23348201..24647020 [GRCh38]
Chr22:23690388..25042987 [GRCh37]
Chr22:22020388..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 copy number gain See cases [RCV000143562] Chr22:23310399..24643051 [GRCh38]
Chr22:23652586..25039018 [GRCh37]
Chr22:21982586..23369018 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000148169] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 copy number gain See cases [RCV000203419] Chr22:23891773..24991691 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 copy number gain See cases [RCV000239808] Chr22:23258229..25046803 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3 copy number gain See cases [RCV000240545] Chr22:24401196..25010751 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258938-25002659)x3 copy number gain See cases [RCV000446585] Chr22:23258938..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 copy number gain See cases [RCV000445819] Chr22:23258229..25046758 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 copy number gain See cases [RCV000448006] Chr22:23652517..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_23667751)_(25041986_?)dup duplication Schizophrenia [RCV000416698] Chr22:23667751..25041986 [GRCh37]
Chr22:21997751..23371986 [NCBI36]
Chr22:22q11.23
likely pathogenic
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23
likely pathogenic
NC_000022.10:g.(?_23667751)_(24991609_?)dup duplication Schizophrenia [RCV000416915] Chr22:23667751..24991609 [GRCh37]
Chr22:21997751..23321609 [NCBI36]
Chr22:22q11.23
likely pathogenic
NM_000675.5(ADORA2A):c.-275+1797C>A single nucleotide variant caffeine response - Toxicity/ADR [RCV000417154] Chr22:24429543 [GRCh38]
Chr22:24825511 [GRCh37]
Chr22:22q11.23
drug response
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3 copy number gain not provided [RCV000509448] Chr22:24652837..25970705 [GRCh37]
Chr22:22q11.23-12.1
not provided
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 copy number gain See cases [RCV000511883] Chr22:23690387..25039018 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 copy number gain See cases [RCV000511837] Chr22:23690387..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3
pathogenic
GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 copy number gain See cases [RCV000512168] Chr22:23653979..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 copy number gain See cases [RCV000512454] Chr22:23652549..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 copy number gain not provided [RCV000684494] Chr22:23650871..25002659 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic|likely pathogenic
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754258] Chr22:23317839..24597843 [GRCh38]
Chr22:22q11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754259] Chr22:23317839..24654160 [GRCh38]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_000675.6(ADORA2A):c.439G>A (p.Gly147Ser) single nucleotide variant not provided [RCV000948124] Chr22:24440689 [GRCh38]
Chr22:24836657 [GRCh37]
Chr22:22q11.23
benign
NM_000675.6(ADORA2A):c.711C>A (p.Ile237=) single nucleotide variant not provided [RCV000948125] Chr22:24440961 [GRCh38]
Chr22:24836929 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:23653987-25158391) copy number gain not provided [RCV000767635] Chr22:23653987..25158391 [GRCh37]
Chr22:22q11.23
likely pathogenic
NC_000022.10:g.(?_24129357)_(24836024_?)dup duplication not provided [RCV001031059] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000675.6(ADORA2A):c.1044C>T (p.Asn348=) single nucleotide variant not provided [RCV000961730] Chr22:24441294 [GRCh38]
Chr22:24837262 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788073] Chr22:23652517..25002659 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV001007176] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 copy number gain not provided [RCV000849234] Chr22:23650200..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
NM_000675.6(ADORA2A):c.432C>T (p.Asn144=) single nucleotide variant not provided [RCV000963730] Chr22:24440682 [GRCh38]
Chr22:24836650 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 copy number gain not provided [RCV000849671] Chr22:23698818..25042987 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV000845636] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
NM_000675.6(ADORA2A):c.885C>T (p.Phe295=) single nucleotide variant not provided [RCV000954529] Chr22:24441135 [GRCh38]
Chr22:24837103 [GRCh37]
Chr22:22q11.23
benign
NM_000675.6(ADORA2A):c.332+9G>A single nucleotide variant not provided [RCV000936694] Chr22:24433745 [GRCh38]
Chr22:24829713 [GRCh37]
Chr22:22q11.23
likely benign
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3 copy number gain See cases [RCV001007417] Chr22:24311474..26075188 [GRCh37]
Chr22:22q11.23-12.1
uncertain significance
NC_000022.10:g.(?_24129357)_(24836024_?)del deletion not provided [RCV001031302] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3 copy number gain not provided [RCV001258774] Chr22:23258368..25059827 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 copy number gain not provided [RCV001258776] Chr22:23650873..25043046 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 copy number gain See cases [RCV001263027] Chr22:23720181..25066484 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_23915453)_(24921762_?)dup duplication Agammaglobulinemia 2, autosomal recessive [RCV001301073] Chr22:23915453..24921762 [GRCh37]
Chr22:22q11.23
uncertain significance
Single allele duplication Epilepsy [RCV001293375] Chr22:23699269..24992266 [GRCh37]
Chr22:22q11.23
pathogenic
NC_000022.10:g.(?_24129357)_(24836024_?)dup duplication not provided [RCV001324555] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:263 AgrOrtholog
COSMIC ADORA2A COSMIC
Ensembl Genes ENSG00000128271 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000336630 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397071 UniProtKB/TrEMBL
  ENSP00000400190 UniProtKB/TrEMBL
  ENSP00000404497 UniProtKB/TrEMBL
  ENSP00000414802 UniProtKB/TrEMBL
  ENSP00000473799 UniProtKB/TrEMBL
  ENSP00000474097 UniProtKB/TrEMBL
  ENSP00000475000 UniProtKB/TrEMBL
  ENSP00000480012 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481552 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483102 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424232 UniProtKB/TrEMBL
  ENST00000436735 UniProtKB/TrEMBL
  ENST00000439591 UniProtKB/TrEMBL
  ENST00000444262 UniProtKB/TrEMBL
  ENST00000472248 UniProtKB/TrEMBL
  ENST00000486108 UniProtKB/TrEMBL
  ENST00000496258 UniProtKB/TrEMBL
  ENST00000610595 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611543 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000618076 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000128271 GTEx
HGNC ID HGNC:263 ENTREZGENE
Human Proteome Map ADORA2A Human Proteome Map
InterPro Adeno_A2A_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adenosn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:135 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 135 ENTREZGENE
OMIM 102776 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ADORA2A RGD, PharmGKB
PRINTS ADENOSINA2AR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADENOSINER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K1F6 ENTREZGENE, UniProtKB/TrEMBL
  AA2AR_HUMAN UniProtKB/Swiss-Prot
  B3KVQ4 ENTREZGENE, UniProtKB/TrEMBL
  C9J0Z4_HUMAN UniProtKB/TrEMBL
  C9J3T2_HUMAN UniProtKB/TrEMBL
  C9JFS2_HUMAN UniProtKB/TrEMBL
  C9JQD8_HUMAN UniProtKB/TrEMBL
  P29274 ENTREZGENE
  S4R2Z8_HUMAN UniProtKB/TrEMBL
  S4R3A7_HUMAN UniProtKB/TrEMBL
  S4R429_HUMAN UniProtKB/TrEMBL
  X5DNB4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R7E0 UniProtKB/Swiss-Prot