• Gene id: 51816

Gene Summary

• Gene Symbol: ADA2   Gene   UCSC   Ensembl
• Aliases: ADGF, CECR1, IDGFL, PAN, SNEDS
• Gene name: adenosine deaminase 2
• Alternate names: adenosine deaminase 2, adenosine deaminase CECR1, cat eye syndrome chromosome region, candidate 1, cat eye syndrome critical region protein 1,
• Gene location: 22q11.1 (17221853: 17178789)     Exons: 13     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from m
• OMIM: 607575

Protein Summary

• Protein general information: Q9NZK5  
  • Name: Adenosine deaminase 2 (EC 3.5.4.4) (Cat eye syndrome critical region protein 1)
  • Length: 511  
  • Mass: 58,934
• Sequence:

  MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELANERLMTLKIAEMKEAM
  RTLIFPPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTPRGIMQFRFAH
  PTPRPSEKCSKWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNVVWSKFETIFFTISGLIHYAPVFR
  DYVFRSMQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAV
  IAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDAL
  MLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKG
  LSYDFYEVFMGIGGMKADLRTLKQLAMNSIKYSTLLESEKNTFMEIWKKRWDKFIADVATK

• Structural information:
  • Interpro: IPR001365  IPR013659  IPR006331  IPR032466  
  • PDB: 3LGD 3LGG
  • PDBsum: 3LGD 3LGG
  • STRING: ENSP00000262607
• Other Databases: GeneCards:  ADA2  Malacards:  ADA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0004000	adenosine deaminase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0006154	adenosine catabolic process	IDA	biological process
GO:0007275	multicellular organism development	NAS	biological process
GO:0008083	growth factor activity	IBA	molecular function
GO:0008083	growth factor activity	NAS	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0031685	adenosine receptor binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043103	hypoxanthine salvage	IBA	biological process
GO:0043394	proteoglycan binding	IDA	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0046103	inosine biosynthetic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004000	adenosine deaminase activity	IEA	molecular function
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0004000	adenosine deaminase activity	TAS	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0006154	adenosine catabolic process	IDA	biological process
GO:0007275	multicellular organism development	NAS	biological process
GO:0008083	growth factor activity	IBA	molecular function
GO:0008083	growth factor activity	NAS	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0019239	deaminase activity	IEA	molecular function
GO:0031685	adenosine receptor binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043103	hypoxanthine salvage	IBA	biological process
GO:0043394	proteoglycan binding	IDA	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0046103	inosine biosynthetic process	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0004000	adenosine deaminase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0006154	adenosine catabolic process	IDA	biological process
GO:0007275	multicellular organism development	NAS	biological process
GO:0008083	growth factor activity	IBA	molecular function
GO:0008083	growth factor activity	NAS	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0031685	adenosine receptor binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043103	hypoxanthine salvage	IBA	biological process
GO:0043394	proteoglycan binding	IDA	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0046103	inosine biosynthetic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Male factor infertility	MIK: 21919946
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 21919946

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21919946	Male infertility			125 (55 fertile men, 70 infertile men)	Male infertility	ADAT ADA2 and ADA1
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq