• Gene id: 954

Gene Summary

• Gene Symbol: ENTPD2   Gene   UCSC   Ensembl
• Aliases: CD39L1, NTPDase-2
• Gene name: ectonucleoside triphosphate diphosphohydrolase 2
• Alternate names: ectonucleoside triphosphate diphosphohydrolase 2, CD39 antigen-like 1, NTPDase 2, ecto-ATP diphosphohydrolase 2, ecto-ATPDase 2, ecto-ATPase 2,
• Gene location: 9q34.3 (137054060: 137048106)     Exons: 9     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protei
• OMIM: 611240

SNPs

rs10841496

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

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs1727130

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

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

Protein Summary

• Protein general information: Q9Y5L3  
  • Name: Ectonucleoside triphosphate diphosphohydrolase 2 (NTPDase 2) (EC 3.6.1. ) (CD39 antigen like 1) (Ecto ATP diphosphohydrolase 2) (Ecto ATPDase 2) (Ecto ATPase 2)
  • Length: 495  
  • Mass: 53665
  • Tissue specificity: Brain, placenta, skeletal muscle, kidney, pancreas, heart, ovary, testis, colon, small intestine, prostate and pancreas. No expression in adult thymus, spleen, lung, liver and peripheral blood leukocytes.
• Sequence:

  MAGKVRSLLPPLLLAAAGLAGLLLLCVPTRDVREPPALKYGIVLDAGSSHTSMFIYKWPADKENDTGIVGQHSSC
  DVPGGGISSYADNPSGASQSLVGCLEQALQDVPKERHAGTPLYLGATAGMRLLNLTNPEASTSVLMAVTHTLTQY
  PFDFRGARILSGQEEGVFGWVTANYLLENFIKYGWVGRWFRPRKGTLGAMDLGGASTQITFETTSPAEDRASEVQ
  LHLYGQHYRVYTHSFLCYGRDQVLQRLLASALQTHGFHPCWPRGFSTQVLLGDVYQSPCTMAQRPQNFNSSARVS
  LSGSSDPHLCRDLVSGLFSFSSCPFSRCSFNGVFQPPVAGNFVAFSAFFYTVDFLRTSMGLPVATLQQLEAAAVN
  VCNQTWAQLQARVPGQRARLADYCAGAMFVQQLLSRGYGFDERAFGGVIFQKKAADTAVGWALGYMLNLTNLIPA
  DPPGLRKGTDFSSWVVLLLLFASALLAALVLLLRQVHSAKLPSTI

• Structural information:
  • Interpro: IPR000407  
  • Prosite: PS01238
  • STRING: ENSP00000347213
• Other Databases: GeneCards:  ENTPD2  Malacards:  ENTPD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0034656	nucleobase-containing small molecule catabolic process	TAS	biological process
GO:0030168	platelet activation	IEA	biological process
GO:0017111	nucleoside-triphosphatase activity	IEA	molecular function
GO:0017110	nucleoside-diphosphatase activity	IEA	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0009181	purine ribonucleoside diphosphate catabolic process	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04742	Taste transduction

Diseases

Associated diseases	References
Primary biliary cirrhosis	PMID:15651265
Malignant glioma	PMID:19558578
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq