mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ADORA2A
Gene summary
Basic gene Info.Gene symbolADORA2A
Gene nameadenosine A2a receptor
SynonymsA2aR|ADORA2|RDC8
CytomapUCSC genome browser: 22q11.23
Type of geneprotein-coding
RefGenesNM_000675.5,
NM_001278497.1,NM_001278498.1,NM_001278499.1,NM_001278500.1,
NR_103543.1,NR_103544.1,
Descriptionadenosine receptor A2aadenosine receptor subtype A2a
Modification date20141215
dbXrefs MIM : 102776
HGNC : HGNC
Ensembl : ENSG00000128271
Ensembl : ENSG00000258555
HPRD : 00043
Vega : OTTHUMG00000150761
ProteinUniProt: P29274
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ADORA2A
BioGPS: 135
PathwayNCI Pathway Interaction Database: ADORA2A
KEGG: ADORA2A
REACTOME: ADORA2A
Pathway Commons: ADORA2A
ContextiHOP: ADORA2A
ligand binding site mutation search in PubMed: ADORA2A
UCL Cancer Institute: ADORA2A
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0010579positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway21393508


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Ligand binding site mutations for ADORA2A

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
L167A165VCOAD2
S281S281LCOAD1
H278H278NCOAD1
I92I92MLUAD1
H264A265TLUSC1
A72F70LUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for ADORA2A
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
L167A165V0.42294456
I92I92M-0.9173127
H278H278N-0.86808114
H264A265T-0.80514869
A72F70L-0.67603756
S281S281L-0.28460658
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for ADORA2A from PDB
PDB IDPDB titlePDB structure
2YDOTHERMOSTABILISED HUMAN A2A RECEPTOR WITH ADENOSINE BOUND

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Differential gene expression and gene-gene network for ADORA2A
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of ADORA2A and the right PPI network was created from samples without mutations in the LBS of ADORA2A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for ADORA2A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0003469Anxiety Disorders12Biomarker, GeneticVariation
umls:C0030319Panic Disorder8Biomarker, GeneticVariation
umls:C0020649Hypotension3Biomarker
umls:C0038587Substance Withdrawal Syndrome3Biomarker
umls:C0021603Sleep Initiation and Maintenance Disorders2Biomarker, GeneticVariation
umls:C0036572Seizures2Biomarker
umls:C0236733Amphetamine-Related Disorders1Biomarker, GeneticVariation
umls:C0013182Drug Hypersensitivity1Biomarker, GeneticVariation
umls:C0033941Psychoses, Substance-Induced1Biomarker, GeneticVariation
umls:C0878544Cardiomyopathies1Therapeutic
umls:C3658338Drug-Related Side Effects and Adverse Reactions1Biomarker
umls:C0314657Genetic Predisposition to Disease1Biomarker
umls:C0424295Hyperkinesis1Therapeutic
umls:C0023893Liver Cirrhosis, Experimental1Biomarker
umls:C0040822Tremor1Biomarker
umls:C0242973Ventricular Dysfunction1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for ADORA2A

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00201CaffeineSmall molecule
ApprovedDB00277TheophyllineSmall molecule
ApprovedDB00358MefloquineSmall molecule
Approved|investigationalDB00640AdenosineSmall molecule
ApprovedDB00651DyphyllineSmall molecule
Approved|investigationalDB00806PentoxifyllineSmall molecule
ApprovedDB00824EnprofyllineSmall molecule
ApprovedDB01303OxtriphyllineSmall molecule
ApprovedDB01412TheobromineSmall molecule
InvestigationalDB04853BinodenosonSmall molecule
Approved|investigationalDB04932DefibrotideBiotech
InvestigationalDB05009ApadenosonSmall molecule
InvestigationalDB05191Atl146eSmall molecule
ApprovedDB06213RegadenosonSmall molecule
ExperimentalDB087704-{2-[(7-amino-2-furan-2-yl[1,2,4]triazolo[1,5-a][1,3,5]triazin-5-yl)amino]ethyl}phenolSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ADORA2A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CLRCHOLESTEROL4eiyAA72
ZMA4-{2-[(7-AMINO-2-FURAN-2-YL[1,2,4]TRIAZOLO[1,5-A][1,3,5]TRIAZIN-5-YL)AMINO]ETHYL}PHENOL3emlAH264
ZMA4-{2-[(7-AMINO-2-FURAN-2-YL[1,2,4]TRIAZOLO[1,5-A][1,3,5]TRIAZIN-5-YL)AMINO]ETHYL}PHENOL4eiyAH264
NGI2-[P-(2-CARBOXYETHYL)PHENYLETHYL-AMINO]-5'-N- ETHYLCARBOXAMIDO ADENOSINE4ug2AH264 H278
NGI2-[P-(2-CARBOXYETHYL)PHENYLETHYL-AMINO]-5'-N- ETHYLCARBOXAMIDO ADENOSINE4ug2BH264 H278
ADNADENOSINE2ydoAH278
NECNECA2ydvAH278
T4G6-(2,6-DIMETHYLPYRIDIN-4-YL)-5-PHENYL-1,2,4-TRIAZIN-3-AMINE3uzaAH278
T4E4-(3-AMINO-5-PHENYL-1,2,4-TRIAZIN-6-YL)-2-CHLOROPHENOL3uzcAH278
NGI2-[P-(2-CARBOXYETHYL)PHENYLETHYL-AMINO]-5'-N- ETHYLCARBOXAMIDO ADENOSINE4uhrAH278
UKA6-(2,2-DIPHENYLETHYLAMINO)-9-[(2R,3R,4S,5S)-5-(ETHYLCARBAMOYL)-3,4-DIHYDROXY-OXOLAN-2-YL]-N-[2-[(1-PYRIDIN-2-YLPIPERIDIN-4-YL)CARBAMOYLAMINO]ETHYL]PURINE-2-CARBOXAMIDE3qakAI92 L167 H264 H278
NASODIUM(1+)4eiyAS281


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Conservation information for LBS of ADORA2A
Multiple alignments for P29274 in multiple species
LBSAA sequence# speciesSpecies
A63LAIPFAITIST4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
A72STGFCAACHGC3Homo sapiens, Mus musculus, Rattus norvegicus
A72STGFCAACHNC1Canis lupus familiaris
A73TGFCAACHGCL3Homo sapiens, Mus musculus, Rattus norvegicus
A73TGFCAACHNCL1Canis lupus familiaris
A81GCLFFACFVLV2Mus musculus, Rattus norvegicus
A81GCLFIACFVLV1Homo sapiens
A81NCLFFACFVLV1Canis lupus familiaris
C254LHIINCFTFFC4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
C259CFTFFCPDCSH1Homo sapiens
C259CFTFFCSTCQH1Mus musculus
C259CFTFFCSTCRH1Rattus norvegicus
C259CFTFFCPECSH1Canis lupus familiaris
C262FFCPDCSHAPL1Homo sapiens
C262FFCSTCQHAPP1Mus musculus
C262FFCSTCRHAPP1Rattus norvegicus
C262FFCPECSHAPL1Canis lupus familiaris
D52SLAAADIAVGV4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
E169VACLFEDVVPM2Homo sapiens, Canis lupus familiaris
E169VTCLFEDVVPM2Mus musculus, Rattus norvegicus
F168QVACLFEDVVP2Homo sapiens, Canis lupus familiaris
F168RVTCLFEDVVP2Mus musculus, Rattus norvegicus
F255HIINCFTFFCP2Homo sapiens, Canis lupus familiaris
F255HIINCFTFFCS2Mus musculus, Rattus norvegicus
F258NCFTFFCPDCS1Homo sapiens
F258NCFTFFCSTCQ1Mus musculus
F258NCFTFFCSTCR1Rattus norvegicus
F258NCFTFFCPECS1Canis lupus familiaris
F62VLAIPFAITIS4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
G76CAACHGCLFFA2Mus musculus, Rattus norvegicus
G76CAACHGCLFIA1Homo sapiens
G76CAACHNCLFFA1Canis lupus familiaris
H250CWLPLHIINCF4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
H264CPDCSHAPLWL1Homo sapiens
H264CSTCQHAPPWL1Mus musculus
H264CSTCRHAPPWL1Rattus norvegicus
H264CPECSHAPLWL1Canis lupus familiaris
H278AIILSHSNSVV2Mus musculus, Rattus norvegicus
H278AIVLSHTNSVV1Homo sapiens
H278TIVLSHTNSVV1Canis lupus familiaris
I274LMYLAIILSHS2Mus musculus, Rattus norvegicus
I274LMYLAIVLSHT1Homo sapiens
I274LMYLTIVLSHT1Canis lupus familiaris
I66PFAITISTGFC4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
I80HGCLFFACFVL2Mus musculus, Rattus norvegicus
I80HGCLFIACFVL1Homo sapiens
I80HNCLFFACFVL1Canis lupus familiaris
I92LTQSSIFSLLA4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
L167GQVACLFEDVV2Homo sapiens, Canis lupus familiaris
L167GRVTCLFEDVV2Mus musculus, Rattus norvegicus
L187FFAFVLLPLLL2Mus musculus, Rattus norvegicus
L187FFACVLVPLLL1Homo sapiens
L187FFAFVLVPLLL1Canis lupus familiaris
L244VGLFALCWLPL4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
L247FALCWLPLHII4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
L249LCWLPLHIINC4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
L267CSHAPLWLMYL2Homo sapiens, Canis lupus familiaris
L267CQHAPPWLMYL1Mus musculus
L267CRHAPPWLMYL1Rattus norvegicus
L269HAPPWLMYLAI2Mus musculus, Rattus norvegicus
L269HAPLWLMYLAI1Homo sapiens
L269HAPLWLMYLTI1Canis lupus familiaris
L48YFVVSLAAADI2Homo sapiens, Canis lupus familiaris
L48FFVVSLAAADI2Mus musculus, Rattus norvegicus
L85FACFVLVLTQS3Mus musculus, Rattus norvegicus, Canis lupus familiaris
L85IACFVLVLTQS1Homo sapiens
M177VPMNYMVYYNF3Mus musculus, Rattus norvegicus, Canis lupus familiaris
M177VPMNYMVYFNF1Homo sapiens
M270APPWLMYLAII2Mus musculus, Rattus norvegicus
M270APLWLMYLAIV1Homo sapiens
M270APLWLMYLTIV1Canis lupus familiaris
N181YMVYYNFFAFV3Mus musculus, Rattus norvegicus, Canis lupus familiaris
N181YMVYFNFFACV1Homo sapiens
N253PLHIINCFTFF4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
N280VLSHTNSVVNP2Homo sapiens, Canis lupus familiaris
N280ILSHSNSVVNP2Mus musculus, Rattus norvegicus
P248ALCWLPLHIIN4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
S263FCPDCSHAPLW1Homo sapiens
S263FCSTCQHAPPW1Mus musculus
S263FCSTCRHAPPW1Rattus norvegicus
S263FCPECSHAPLW1Canis lupus familiaris
S277LAIILSHSNSV2Mus musculus, Rattus norvegicus
S277LAIVLSHTNSV1Homo sapiens
S277LTIVLSHTNSV1Canis lupus familiaris
S281LSHTNSVVNPF2Homo sapiens, Canis lupus familiaris
S281LSHSNSVVNPF2Mus musculus, Rattus norvegicus
S67FAITISTGFCA4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
S91VLTQSSIFSLL4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
T256IINCFTFFCST2Mus musculus, Rattus norvegicus
T256IINCFTFFCPD1Homo sapiens
T256IINCFTFFCPE1Canis lupus familiaris
T88FVLVLTQSSIF4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
V84FFACFVLVLTQ3Mus musculus, Rattus norvegicus, Canis lupus familiaris
V84FIACFVLVLTQ1Homo sapiens
W246LFALCWLPLHI4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
Y271PPWLMYLAIIL2Mus musculus, Rattus norvegicus
Y271PLWLMYLAIVL1Homo sapiens
Y271PLWLMYLTIVL1Canis lupus familiaris


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