• Gene id: 136

Gene Summary

• Gene Symbol: ADORA2B   Gene   UCSC   Ensembl
• Aliases: ADORA2
• Gene name: adenosine A2b receptor
• Alternate names: adenosine receptor A2b,
• Gene location: 17p12 (15927781: 15975895)     Exons: 6     NC_000017.11
• Gene summary(Entrez): This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is
• OMIM: 602818

SNPs

rs587777044

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

NC_000003.12   g.50343331dup
NC_000003.11   g.50380762dup
NG_023270.1   g.2606dup
NG_042828.1   g.7416dup
NM_015896.4   c.486dup
NM_015896.3   c.486dup
NM_015896.2   c.486dup
NM_001308379.2   c.486dup
NM_001308379.1   c.486dup
XM_005265216.3   c.249dup
XM_005265216.1   c.

rs587777043

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

NC_000003.12   g.50343753del
NC_000003.11   g.50381184del
NG_023270.1   g.2185del
NG_042828.1   g.6995del
NM_015896.4   c.300del
NM_015896.3   c.300del
NM_015896.2   c.300del
NM_001308379.2   c.300del
NM_001308379.1   c.300del
XM_005265216.3   c.63del
XM_005265216.1   c.6

rs397515460

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

NC_000003.12   g.50342047G>A
NC_000003.11   g.50379478G>A
NG_023270.1   g.3890C>T
NG_042828.1   g.8700C>T
NM_015896.4   c.967C>T
NM_015896.3   c.967C>T
NM_015896.2   c.967C>T
NM_001308379.2   c.952C>T
NM_001308379.1   c.952C>T
XM_005265216.3   c.730C>T
XM_005265216.1   c.

rs200913791

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

NC_000003.12   g.50342473A>G
NC_000003.11   g.50379904A>G
NG_023270.1   g.3464T>C
NG_042828.1   g.8274T>C
NM_015896.4   c.797T>C
NM_015896.3   c.797T>C
NM_015896.2   c.797T>C
NM_001308379.2   c.782T>C
NM_001308379.1   c.782T>C
XM_005265216.3   c.560T>C
XM_005265216.1   c.

rs138815960

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

NC_000003.12   g.50345533A>C
NC_000003.11   g.50382964A>C
NG_023270.1   g.404T>G
NG_042828.1   g.5214T>G
NM_015896.4   c.47T>G
NM_015896.3   c.47T>G
NM_015896.2   c.47T>G
NM_001308379.2   c.47T>G
NM_001308379.1   c.47T>G
XM_005265216.3   c.-82T>G
XM_005265216.1   c.-82T>G

Protein Summary

• Protein general information: P29275  
  • Name: Adenosine receptor A2b
  • Length: 332  
  • Mass: 36333
• Sequence:

  MLLETQDALYVALELVIAALSVAGNVLVCAAVGTANTLQTPTNYFLVSLAAADVAVGLFAIPFAITISLGFCTDF
  YGCLFLACFVLVLTQSSIFSLLAVAVDRYLAICVPLRYKSLVTGTRARGVIAVLWVLAFGIGLTPFLGWNSKDSA
  TNNCTEPWDGTTNESCCLVKCLFENVVPMSYMVYFNFFGCVLPPLLIMLVIYIKIFLVACRQLQRTELMDHSRTT
  LQREIHAAKSLAMIVGIFALCWLPVHAVNCVTLFQPAQGKNKPKWAMNMAILLSHANSVVNPIVYAYRNRDFRYT
  FHKIISRYLLCQADVKSGNGQAGVQPALGVGL

• Structural information:
  • Interpro: IPR001435  IPR001634  IPR000276  IPR017452  
  • Prosite: PS00237 PS50262
  • STRING: ENSP00000304501
• Other Databases: GeneCards:  ADORA2B  Malacards:  ADORA2B

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0016021	integral component of membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0007254	JNK cascade	TAS	biological process
GO:0007588	excretion	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:0044267	cellular protein metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0060087	relaxation of vascular smooth muscle	IEA	biological process
GO:0043306	positive regulation of mast cell degranulation	IEA	biological process
GO:0032755	positive regulation of interleukin-6 production	IEA	biological process
GO:0032722	positive regulation of chemokine production	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0002882	positive regulation of chronic inflammatory response to non-antigenic stimulus	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0031284	positive regulation of guanylate cyclase activity	IEA	biological process
GO:0010753	positive regulation of cGMP-mediated signaling	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04015	Rap1 signaling pathway
hsa04020	Calcium signaling pathway
hsa05034	Alcoholism
hsa04270	Vascular smooth muscle contraction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq