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

Summary

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: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (137048107..137054061, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149283232..149291667, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139942559..139948513, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
down-regulation in biliary cirrhosis
Title: Ectonucleotidase NTPDase2 is selectively down-regulated in biliary cirrhosis.
NTPDase2 preferentially hydrolyzes nucleoside triphosphates.
Title: Regulation of P2Y1 receptor-mediated signaling by the ectonucleoside triphosphate diphosphohydrolase isozymes NTPDase1 and NTPDase2.
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).
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

EC 3.6.1.-

NP_982293.1

EC 3.6.1.-

XP_011517514.1

EC 3.6.1.-

XP_054220181.1

EC 3.6.1.-

XP_054220182.1

EC 3.6.1.-

XP_054220183.1

EC 3.6.1.-

XP_054220184.1

EC 3.6.1.-

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

NG_029427.1 RefSeqGene

Range

4993..10947

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

137048107..137054061 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060933.1 Alternate T2T-CHM13v2.0

Range

149283232..149291667 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364206.1 → XP_054220181.1 ectonucleoside triphosphate diphosphohydrolase 2 isoform X2
XM_054364207.1 → XP_054220182.1 ectonucleoside triphosphate diphosphohydrolase 2 isoform X2
XM_054364208.1 → XP_054220183.1 ectonucleoside triphosphate diphosphohydrolase 2 isoform X3
XM_054364209.1 → XP_054220184.1 ectonucleoside triphosphate diphosphohydrolase 2 isoform X1