ADORA2B

adenosine A2b receptor, the group of Adenosine receptors

Basic information

Region (hg38): 17:15945129-15975746

Links

ENSG00000170425 ∙ NCBI:136 ∙ OMIM:600446 ∙ HGNC:264 ∙ Uniprot:P29275 ∙ 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 ADORA2B gene.

• Inborn genetic diseases (14 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADORA2B 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					3	3
missense			14		1	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	4

Variants in ADORA2B

This is a list of pathogenic ClinVar variants found in the ADORA2B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-15945271-C-A		not specified	Uncertain significance (Nov 07, 2022)
17-15945274-T-C		not specified	Uncertain significance (Jan 10, 2023)
17-15945319-G-A		not specified	Uncertain significance (Jan 18, 2023)
17-15945352-C-T			Benign (Apr 10, 2018)
17-15945359-T-C			Benign (Jun 29, 2018)
17-15945373-C-T		not specified	Uncertain significance (Dec 07, 2023)
17-15945376-A-C		not specified	Uncertain significance (Apr 07, 2022)
17-15945501-G-T		not specified	Uncertain significance (Feb 27, 2023)
17-15945571-G-A		not specified	Uncertain significance (Sep 16, 2021)
17-15974683-A-C		not specified	Uncertain significance (Apr 07, 2022)
17-15974697-G-A			Benign (May 24, 2018)
17-15974752-G-A		not specified	Uncertain significance (Sep 26, 2022)
17-15974778-C-G		not specified	Uncertain significance (Jun 02, 2023)
17-15974920-C-T		not specified	Uncertain significance (Oct 14, 2023)
17-15974948-A-T		not specified	Uncertain significance (Mar 29, 2022)
17-15974952-T-G		not specified	Uncertain significance (Feb 12, 2024)
17-15975109-G-A		not specified	Uncertain significance (Jun 02, 2023)
17-15975122-A-G		not specified	Uncertain significance (Aug 29, 2023)
17-15975129-T-C			Benign (Apr 10, 2018)
17-15975173-T-G		not specified	Uncertain significance (May 05, 2023)
17-15975227-G-A		not specified	Uncertain significance (Aug 22, 2023)
17-15975271-C-T		not specified	Uncertain significance (Feb 13, 2024)
17-15975311-G-A		not specified	Uncertain significance (Mar 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADORA2B	protein_coding	protein_coding	ENST00000304222	2	30830

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000177	0.460	125701	0	47	125748	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0552	182	180	1.01	0.00000914	2128
Missense in Polyphen		58	59.713	0.97131		790
Synonymous	0.426	69	73.7	0.937	0.00000359	704
Loss of Function	0.490	8	9.64	0.830	5.84e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000273	0.000273
Middle Eastern	0.000109	0.000109
South Asian	0.000229	0.000229
Other	0.000326	0.000326

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);Vascular smooth muscle contraction - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Alcoholism - Homo sapiens (human);Intracellular Signalling Through Adenosine Receptor A2b and Adenosine;GPCRs, Class A Rhodopsin-like;Nucleotide GPCRs;Signaling by GPCR;Signal Transduction;Adenosine P1 receptors;Surfactant metabolism;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;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;C-MYB transcription factor network;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.185

Intolerance Scores

• loftool: 0.607
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.9

Haploinsufficiency Scores

• pHI: 0.0827
• hipred: Y
• hipred_score: 0.517
• ghis: 0.554

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.353

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adora2b
• Phenotype: homeostasis/metabolism phenotype; cellular 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); hematopoietic system phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); 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); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype

Zebrafish Information Network

• Gene name: adora2b
• Affected structure: hematopoietic multipotent progenitor cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: activation of MAPK activity;adenosine receptor signaling pathway;positive regulation of chronic inflammatory response to non-antigenic stimulus;cellular defense response;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;JNK cascade;excretion;positive regulation of vascular endothelial growth factor production;positive regulation of cGMP-mediated signaling;positive regulation of guanylate cyclase activity;cellular response to extracellular stimulus;positive regulation of chemokine production;positive regulation of interleukin-6 production;positive regulation of mast cell degranulation;cellular protein metabolic process;relaxation of vascular smooth muscle;regulation of synaptic vesicle exocytosis
• Cellular component: plasma membrane;integral component of plasma membrane;Schaffer collateral - CA1 synapse;glutamatergic synapse
• Molecular function: G protein-coupled adenosine receptor activity