ADORA2A

adenosine A2a receptor, the group of Adenosine receptors

Basic information

Region (hg38): 22:24417878-24442357

Previous symbols: [ "ADORA2" ]

Links

ENSG00000128271 ∙ NCBI:135 ∙ OMIM:102776 ∙ HGNC:263 ∙ Uniprot:P29274 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADORA2A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADORA2A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					4	4
missense			18	1	1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	18	2	5

Variants in ADORA2A

This is a list of pathogenic ClinVar variants found in the ADORA2A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-24419434-TAAGGGCCAAGCAGAAAAG-T			Benign (Jun 01, 2023)
22-24433427-T-C		not specified	Uncertain significance (Mar 29, 2022)
22-24433552-G-T		not specified	Uncertain significance (Jun 06, 2023)
22-24433607-C-T		not specified	Uncertain significance (May 16, 2023)
22-24433745-G-A			Likely benign (Dec 31, 2019)
22-24440602-G-A		not specified	Uncertain significance (Aug 22, 2023)
22-24440606-C-T		not specified	Uncertain significance (Aug 30, 2021)
22-24440641-C-G		not specified	Uncertain significance (Mar 14, 2023)
22-24440674-G-A		not specified	Uncertain significance (Jan 31, 2022)
22-24440682-C-T			Benign (Apr 09, 2018)
22-24440689-G-A			Benign (Jul 13, 2018)
22-24440693-A-G		not specified	Uncertain significance (May 26, 2024)
22-24440728-G-A		not specified	Uncertain significance (Dec 13, 2023)
22-24440837-T-C		not specified	Uncertain significance (Sep 30, 2021)
22-24440961-C-A			Benign (Jul 13, 2018)
22-24441001-A-T		not specified	Uncertain significance (Apr 27, 2022)
22-24441119-A-T		not specified	Uncertain significance (Sep 01, 2021)
22-24441121-C-T		not specified	Uncertain significance (Mar 07, 2024)
22-24441135-C-T			Benign (Aug 14, 2018)
22-24441137-G-A		not specified	Uncertain significance (Jun 16, 2023)
22-24441161-G-A		not specified	Uncertain significance (Mar 04, 2024)
22-24441169-G-A		not specified	Likely benign (Dec 15, 2021)
22-24441268-G-A		not specified	Uncertain significance (May 28, 2024)
22-24441283-G-C		not specified	Uncertain significance (Apr 08, 2024)
22-24441286-T-C		not specified	Uncertain significance (Nov 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADORA2A	protein_coding	protein_coding	ENST00000337539	2	24482

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.597	0.401	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.52	189	258	0.733	0.0000168	2645
Missense in Polyphen		34	60.93	0.55802		648
Synonymous	0.505	109	116	0.940	0.00000833	893
Loss of Function	2.59	2	11.4	0.175	6.79e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000617	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.
• Pathway: Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Alcoholism - Homo sapiens (human);Intracellular Signalling Through Adenosine Receptor A2a and Adenosine;GPCRs, Other;Cannabinoid receptor signaling;Phosphodiesterases in neuronal function;GPCRs, Class A Rhodopsin-like;Monoamine Transport;Nucleotide GPCRs;Signaling by GPCR;Activation of TRKA receptors;Signal Transduction;Adenosine P1 receptors;NGF-independant TRKA activation;GPCR Adenosine A2A receptor;Surfactant metabolism;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;HIF-2-alpha transcription factor network;G alpha (s) signalling events;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Signaling by NTRK1 (TRKA);Signaling by NTRKs;GPCR signaling-G alpha i;Signaling by Receptor Tyrosine Kinases;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.419

Intolerance Scores

• loftool: 0.634
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.26

Haploinsufficiency Scores

• pHI: 0.168
• hipred: Y
• hipred_score: 0.577
• ghis: 0.403

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.559

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Adora2a
• Phenotype: growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype

Zebrafish Information Network

• Gene name: adora2aa
• Affected structure: heart
• Phenotype tag: abnormal
• Phenotype quality: decreased functionality

Gene ontology

• Biological process: synaptic transmission, dopaminergic;adenosine receptor signaling pathway;response to amphetamine;cAMP biosynthetic process;regulation of transcription, DNA-templated;negative regulation of protein kinase activity;phagocytosis;apoptotic process;inflammatory response;cellular defense response;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;protein kinase C-activating G protein-coupled receptor signaling pathway;cell-cell signaling;synaptic transmission, cholinergic;central nervous system development;blood coagulation;sensory perception;locomotory behavior;blood circulation;negative regulation of cell population proliferation;positive regulation of glutamate secretion;positive regulation of acetylcholine secretion, neurotransmission;regulation of norepinephrine secretion;response to caffeine;positive regulation of synaptic transmission, GABAergic;synaptic transmission, glutamatergic;positive regulation of urine volume;positive regulation of renal sodium excretion;negative regulation of locomotion;vasodilation;eating behavior;negative regulation of vascular permeability;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;negative regulation of neuron apoptotic process;cellular protein metabolic process;positive regulation of circadian sleep/wake cycle, sleep;negative regulation of alpha-beta T cell activation;astrocyte activation;neuron projection morphogenesis;positive regulation of protein secretion;negative regulation of inflammatory response;regulation of mitochondrial membrane potential;membrane depolarization;regulation of calcium ion transport;positive regulation of synaptic transmission, glutamatergic;excitatory postsynaptic potential;inhibitory postsynaptic potential;prepulse inhibition;positive regulation of long-term synaptic potentiation;regulation of synaptic vesicle exocytosis;positive regulation of apoptotic signaling pathway
• Cellular component: Golgi membrane;intermediate filament;plasma membrane;integral component of plasma membrane;postsynaptic density;membrane;dendrite;axolemma;neuronal cell body;presynaptic active zone;glutamatergic synapse;integral component of postsynaptic membrane;integral component of presynaptic membrane
• Molecular function: G protein-coupled adenosine receptor activity;protein binding;enzyme binding;type 5 metabotropic glutamate receptor binding;identical protein binding;protein heterodimerization activity;alpha-actinin binding