• Gene id: 140

Gene Summary

• Gene Symbol: ADORA3   Gene   UCSC   Ensembl
• Aliases: A3AR
• Gene name: adenosine A3 receptor
• Alternate names: adenosine receptor A3,
• Gene location: 1p13.2 (111503632: 111499428)     Exons: 2     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 600445

SNPs

rs886041025

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985782G>C
NC_000020.10   g.31573588G>C
NG_054760.1   g.23668C>G
NM_080675.4   c.851C>G
NM_080675.3   c.851C>G
XM_011528573.1   c.920C>G
XM_011528574.1   c.776C>G
XM_011528575.1   c.581C>G
NP_542406.2   p.Ser284Ter
XP_011526875.1   p.Ser307Ter
XP_01152  

rs886041024

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985852C>T
NC_000020.10   g.31573658C>T
NG_054760.1   g.23598G>A
NM_080675.4   c.781G>A
NM_080675.3   c.781G>A
XM_011528573.1   c.850G>A
XM_011528574.1   c.706G>A
XM_011528575.1   c.511G>A
NP_542406.2   p.Val261Met
XP_011526875.1   p.Val284Met
XP_01152  

rs886041023

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32995668A>G
NC_000020.11   g.32995668A>T
NC_000020.10   g.31583474A>G
NC_000020.10   g.31583474A>T
NG_054760.1   g.13782T>C
NG_054760.1   g.13782T>A
NM_080675.4   c.485T>C
NM_080675.4   c.485T>A
NM_080675.3   c.485T>C
NM_080675.3   c.485T>A
XM_011528573  

rs781693813

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.32997649del
NC_000020.10   g.31585455del
NG_054760.1   g.11803del
NM_080675.4   c.381del
NM_080675.3   c.381del
XM_011528573.1   c.450del
XM_011528574.1   c.306del
XM_011528575.1   c.111del
XM_011528576.1   c.450del
NP_542406.2   p.Val128fs
XP_011526875  

rs756459525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985809G>A
NC_000020.10   g.31573615G>A
NG_054760.1   g.23641C>T
NM_080675.4   c.824C>T
NM_080675.3   c.824C>T
XM_011528573.1   c.893C>T
XM_011528574.1   c.749C>T
XM_011528575.1   c.554C>T
NP_542406.2   p.Thr275Met
XP_011526875.1   p.Thr298Met
XP_01152  

rs754130052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32983868G>A
NC_000020.10   g.31571674G>A
NG_054760.1   g.25582C>T
NM_080675.4   c.1066C>T
NM_080675.3   c.1066C>T
XM_011528573.1   c.1135C>T
XM_011528574.1   c.991C>T
XM_011528575.1   c.796C>T
NP_542406.2   p.Arg356Cys
XP_011526875.1   p.Arg379Cys
XP_01  

rs3197744

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1937841G>T
NC_000020.10   g.1918487G>T
XM_006723545.4   c.*273G>T
XM_005260670.3   c.*273G>T
XM_005260670.1   c.*273G>T
XM_011529173.2   c.*273G>T
NM_080792.2   c.*273G>T
NM_080792.3   c.*273G>T
NM_001330728.1   c.*273G>T
NM_001040022.1   c.*273G>T
NM_0  

Protein Summary

• Protein general information: P0DMS8  
  • Name: Adenosine receptor A3
  • Length: 318  
  • Mass: 36185
  • Tissue specificity: Expressed in the lung and bone. Expressed at lower levels in osteosarcoma tissues (at protein level). {ECO
• Sequence:

  MPNNSTALSLANVTYITMEIFIGLCAIVGNVLVICVVKLNPSLQTTTFYFIVSLALADIAVGVLVMPLAIVVSLG
  ITIHFYSCLFMTCLLLIFTHASIMSLLAIAVDRYLRVKLTVRYKRVTTHRRIWLALGLCWLVSFLVGLTPMFGWN
  MKLTSEYHRNVTFLSCQFVSVMRMDYMVYFSFLTWIFIPLVVMCAIYLDIFYIIRNKLSLNLSNSKETGAFYGRE
  FKTAKSLFLVLFLFALSWLPLSIINCIIYFNGEVPQLVLYMGILLSHANSMMNPIVYAYKIKKFKETYLLILKAC
  VVCHPSDSLDTSIEKNSE

• Structural information:
  • Interpro: IPR000466  IPR001634  IPR000276  IPR017452  
  • Prosite: PS00237 PS50262
  • PDB: 1OEA 1R7N
  • PDBsum: 1OEA 1R7N
• Other Databases: GeneCards:  ADORA3  Malacards:  ADORA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0001609	G protein-coupled adenosine receptor activity	IEA	molecular function
GO:0001973	G protein-coupled adenosine receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006954	inflammatory response	TAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008016	regulation of heart contraction	TAS	biological process
GO:0009611	response to wounding	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04022	cGMP-PKG signaling pathway
hsa04071	Sphingolipid signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R