ADORA3

protein-coding

adenosine A3 receptor, the group of Adenosine receptors|V-set domain containing

Gene summary

This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]

MANE transcript

NM_000677.4

Inheritance

—

ClinVar variants

U:5B:1

Top phenotype

ADORA3-related disorder

Max pathogenic AF

—

Genomic locus

chr1:111,499,429-111,503,633

External References & Databases

Ensembl (ENSG00000282608)

Transcript & Mutation Effects

hg38 • Region Span ~4.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ADORA3 variants in ClinVar

2 Conditions Cataloged

ADORA3-related disorderTotal: 3

not specifiedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000677.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			5 clinvar	1 clinvar		6
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	5	1	0	6

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000677.4	RefSeq	NP_000668.1	2	MANE Select
ENST00000241356.5	Ensembl	ENSP00000241356.4	2	MANE Select
NM_001302678.2	RefSeq	NP_001289607.1	2	Standard
NM_001302679.2	RefSeq	NP_001289608.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Sphingolipid signaling pathway - Homo sapiens (human)
Neuroactive ligand-receptor interaction - Homo sapiens (human)
cGMP-PKG signaling pathway - Homo sapiens (human)
GPCRs, Other
GPCRs, Class A Rhodopsin-like

Biological Process

adenosine receptor signaling pathway
inflammatory response
signal transduction
G protein-coupled receptor signaling pathway
activation of adenylate cyclase activity

Molecular Function

G protein-coupled adenosine receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Isoform 2: Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase (PubMed:8234299). {ECO:0000269|PubMed:8234299}.;

Recessive Scores

pRec: 0.168

Intolerance Scores

LoFtool: 0.869
RVIS EVS: -0.09
RVIS percentile EVS: 47.12

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.659

Gene Damage Prediction

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