ADORA2B
adenosine A2b receptor, the group of Adenosine receptors
Basic information
Region (hg38): 17:15945130-15975746
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
| missense | 19 | 20 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 19 | 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:
| 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:
- 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