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ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 [ Homo sapiens (human) ]

Gene ID: 954, updated on 11-Apr-2024

Summary

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Official Symbol
ENTPD2provided by HGNC
Official Full Name
ectonucleoside triphosphate diphosphohydrolase 2provided by HGNC
Primary source
HGNC:HGNC:3364
See related
Ensembl:ENSG00000054179 MIM:602012; AllianceGenome:HGNC:3364
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CD39L1; NTPDase-2
Summary
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 protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Expression
Broad expression in duodenum (RPKM 4.7), prostate (RPKM 4.6) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
9q34.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137048107..137054061, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149283232..149291667, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139942559..139948513, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139929142-139930030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139930031-139930917 Neighboring gene fucosyltransferase 7 Neighboring gene neural proliferation, differentiation and control 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139940694-139941363 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139943096-139943624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139943625-139944153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20567 Neighboring gene uncharacterized LOC105376327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139958261-139959038 Neighboring gene suppressor APC domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139962228-139963208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139965171-139966150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139968734-139969347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139972693-139973571 Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:139977971-139978205

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Inhibition of human NTPDase 2 by modification of an intramembrane cysteine by p-chloromercuriphenylsulfonate and oxidative cross-linking of the transmembrane domains. Chiang WC, et al. Biochemistry, 2008 Aug 19. PMID 18656957
  2. Mutagenesis of lysine 62, asparagine 64, and conserved region 1 reduces the activity of human ecto-ATPase (NTPDase 2). Javed R, et al. Biochemistry, 2007 Jun 5. PMID 17489562
  3. Either the carboxyl- or the amino-terminal region of the human ecto-ATPase (E-NTPDase 2) confers detergent and temperature sensitivity to the chicken ecto-ATP-diphosphohydrolase (E-NTPDase 8). Mukasa T, et al. Biochemistry, 2005 Aug 23. PMID 16101300
  4. Enzymatic and transcriptional regulation of human ecto-ATPase/E-NTPDase 2. Knowles AF, et al. Arch Biochem Biophys, 2003 Oct 15. PMID 14522593
  5. Requirement of Cys399 for processing of the human ecto-ATPase (NTPDase2) and its implications for determination of the activities of splice variants of the enzyme. Mateo J, et al. J Biol Chem, 2003 Oct 10. PMID 12888562

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In oviducts, remarkably, ectonucleoside triphosphate diphosphohydrolase 2 (NTPDase2), with the ability to hydrolyze ATP to AMP, are expressed in ciliated epithelial cells but with different subcellular localization.
    Title: Characterization of ecto-nucleotidases in human oviducts with an improved approach simultaneously identifying protein expression and in situ enzyme activity.
  2. Hypoxia upregulates ENTPD2 through HIF-1alpha in hepatocellular carcinoma and subsequently leading to the accumulation of extracellular 5'-AMP, which maintains myeloid-derived suppressor cells undifferentiated.
    Title: Hypoxia inducible factor HIF-1 promotes myeloid-derived suppressor cells accumulation through ENTPD2/CD39L1 in hepatocellular carcinoma.
  3. NTPDase2 and -3 are ecto-enzymes expressed in the enteric nervous system. Both enzymes confer protection against gut inflammation in experimental colitis and exhibit alterations in Crohn's disease. These observations suggest that purinergic signalling modulated by E-NTPDases governs neuro-immune interactions that are relevant in Crohn's disease.
    Title: Expression of Ecto-nucleoside Triphosphate Diphosphohydrolases-2 and -3 in the Enteric Nervous System Affects Inflammation in Experimental Colitis and Crohn's Disease.
  4. The role of cysteine 26 in the catalytic activity of NTPDase-2 and as the target of p-chloromercuriphenylsulfonate (pCMPS), a sulfhydryl reagent and NTPDase-2 inhibitor, is reported.
    Title: Inhibition of human NTPDase 2 by modification of an intramembrane cysteine by p-chloromercuriphenylsulfonate and oxidative cross-linking of the transmembrane domains.
  5. the lack of ecto-nucleotidase activity exhibited by NTPDase2 beta and -2 gamma and the C399S mutant, as well as the large reduction of activity in the N443D mutant are due to alterations in the folding/maturation of these proteins
    Title: Requirement of Cys399 for processing of the human ecto-ATPase (NTPDase2) and its implications for determination of the activities of splice variants of the enzyme.
  6. down-regulation in biliary cirrhosis
    Title: Ectonucleotidase NTPDase2 is selectively down-regulated in biliary cirrhosis.
  7. NTPDase2 preferentially hydrolyzes nucleoside triphosphates.
    Title: Regulation of P2Y1 receptor-mediated signaling by the ectonucleoside triphosphate diphosphohydrolase isozymes NTPDase1 and NTPDase2.
  8. Mutagenesis study indicate the importance of K62 located in CR1, K182 downstream of ACR3, and R155. Mutation of Asp at the six potential glycosylation sites showed the importance of N64 in CR1 and N443 in ACR5 in protein function and expression
    Title: Mutagenesis of lysine 62, asparagine 64, and conserved region 1 reduces the activity of human ecto-ATPase (NTPDase 2).
  9. NTPDase2 has a role in portal fibroblast regulation of bile duct epithelium proliferation
    Title: Portal fibroblasts regulate the proliferation of bile duct epithelia via expression of NTPDase2.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables GDP phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables UDP phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribonucleoside triphosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleoside diphosphate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in platelet activation IEA
Inferred from Electronic Annotation
more info
  
involved_in purine ribonucleoside diphosphate catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basement membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ectonucleoside triphosphate diphosphohydrolase 2
Names
CD39 antigen-like 1
NTPDase 2
ecto-ATP diphosphohydrolase 2
ecto-ATPDase 2
ecto-ATPase 2
NP_001237.1
NP_982293.1
XP_011517514.1
XP_054220181.1
XP_054220182.1
XP_054220183.1
XP_054220184.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029427.1 RefSeqGene

    Range
    4993..10947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001246.4 → NP_001237.1  ectonucleoside triphosphate diphosphohydrolase 2 isoform 2

    See identical proteins and their annotated locations for NP_001237.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF144748, AL807752, BC035738, CB045339, U91510
    Consensus CDS
    CCDS7025.1
    UniProtKB/Swiss-Prot
    Q9Y5L3
    Related
    ENSP00000312494.5, ENST00000312665.7
    Conserved Domains (1) summary
    cl17037
    Location:39 → 430
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

  2. NM_203468.3 → NP_982293.1  ectonucleoside triphosphate diphosphohydrolase 2 isoform 1

    See identical proteins and their annotated locations for NP_982293.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF144748, AL807752, BC035738, CB045339
    Consensus CDS
    CCDS7026.1
    UniProtKB/Swiss-Prot
    O15464, Q5SPY6, Q5SPY7, Q9Y5L3
    Related
    ENSP00000347213.2, ENST00000355097.7
    Conserved Domains (1) summary
    cl17037
    Location:39 → 453
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    137048107..137054061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519212.3 → XP_011517514.1  ectonucleoside triphosphate diphosphohydrolase 2 isoform X1

    Conserved Domains (1) summary
    cl17037
    Location:31 → 350
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149283232..149291667 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364206.1 → XP_054220181.1  ectonucleoside triphosphate diphosphohydrolase 2 isoform X2

  2. XM_054364207.1 → XP_054220182.1  ectonucleoside triphosphate diphosphohydrolase 2 isoform X2

  3. XM_054364208.1 → XP_054220183.1  ectonucleoside triphosphate diphosphohydrolase 2 isoform X3

  4. XM_054364209.1 → XP_054220184.1  ectonucleoside triphosphate diphosphohydrolase 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y5L3.1 GenPept UniProtKB/Swiss-Prot:Q9Y5L3

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