ENPP3 (ectonucleotide pyrophosphatase/phosphodiesterase 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5169
• Gene name: Ectonucleotide pyrophosphatase/phosphodiesterase 3
• Gene symbol: ENPP3
• Synonyms (NCBI Gene): B10, CD203c, NPP3, PD-IBETA, PDNP3
• Chromosome: 6
• Chromosome location: 6q23.2
• Summary: The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the

miRNA Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT964021	hsa-miR-135a	CLIP-seq
MIRT964022	hsa-miR-135b	CLIP-seq
MIRT964023	hsa-miR-2909	CLIP-seq
MIRT964024	hsa-miR-3119	CLIP-seq
MIRT964025	hsa-miR-4278	CLIP-seq
MIRT964026	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002276	Process	Basophil activation involved in immune response	IEA
GO:0002276	Process	Basophil activation involved in immune response	ISS
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004081	Function	Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	IDA	12846830
GO:0004081	Function	Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	IEA
GO:0004528	Function	Phosphodiesterase I activity	IEA
GO:0004528	Function	Phosphodiesterase I activity	IMP	11342463
GO:0005509	Function	Calcium ion binding	IDA	29717535
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IDA	12846830
GO:0005886	Component	Plasma membrane	IEA
GO:0006220	Process	Pyrimidine nucleotide metabolic process	IMP	11342463
GO:0006796	Process	Phosphate-containing compound metabolic process	IDA	10513816
GO:0008270	Function	Zinc ion binding	IDA	29717535
GO:0009143	Process	Nucleoside triphosphate catabolic process	IBA
GO:0009143	Process	Nucleoside triphosphate catabolic process	IDA	10513816
GO:0009143	Process	Nucleoside triphosphate catabolic process	IEA
GO:0009897	Component	External side of plasma membrane	IDA	11342463
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016462	Function	Pyrophosphatase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030505	Process	Inorganic diphosphate transport	IDA	10513816
GO:0033007	Process	Negative regulation of mast cell activation involved in immune response	IEA
GO:0033007	Process	Negative regulation of mast cell activation involved in immune response	ISS
GO:0034432	Function	Bis(5'-adenosyl)-pentaphosphatase activity	IDA	12846830
GO:0036219	Function	GTP diphosphatase activity	IEA
GO:0036221	Function	UTP diphosphatase activity	IEA
GO:0046034	Process	ATP metabolic process	IDA	29717535
GO:0046034	Process	ATP metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IBA
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IDA	10513816, 29717535
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IEA
GO:0047693	Function	ATP diphosphatase activity	IEA
GO:0047710	Function	Bis(5'-adenosyl)-triphosphatase activity	IDA	12846830
GO:0047710	Function	Bis(5'-adenosyl)-triphosphatase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10513816
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0055062	Process	Phosphate ion homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0070667	Process	Negative regulation of mast cell proliferation	IEA
GO:0070667	Process	Negative regulation of mast cell proliferation	ISS

Other IDs

• MIM: 602182
• HGNC: 3358
• e!Ensembl: ENSG00000154269

Protein

• UniProt ID: O14638
• Protein name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (E-NPP 3) (NPP3) (Alkaline phosphodiesterase I) (EC 3.1.4.1) (Dinucleoside polyphosphatase) (EC 3.6.1.-) (Nucleotide diphosphatase) (Nucleotide pyrophosphatase) (NPPase) (EC 3.6.1.9) (Phosph
• Protein function: Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (PubMed:29717535, PubMed:9344668). Limits mast cells and basophils response during inflammation and during the chronic phases of allergic responses by eliminat
• PDB: 6C01 , 6C02
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01033	Somatomedin_B	96 → 136	Somatomedin B domain	Family
  PF01033	Somatomedin_B	52 → 92	Somatomedin B domain	Family
  PF01223	Endonuclease_NS	613 → 856	DNA/RNA non-specific endonuclease	Domain
  PF01663	Phosphodiest	161 → 486	Type I phosphodiesterase / nucleotide pyrophosphatase	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected on bile ducts in liver, and in blood serum (at protein level) (PubMed:15072822). Detected in prostate and uterus (PubMed:9344668). Detected on basophils, but not neutrophils (PubMed:11342463). {ECO:0000269|PubMed:11342463, ECO
• Sequence:

  MESTLTLATEQPVKKNTLKKYKIACIVLLALLVIMSLGLGLGLGLRKLEKQGSCRKKCFD
  ASFRGLENCRCDVACKDRGDCCWDFEDTCVESTRIWMCNKFRCGETRLEASLCSCSDDCL
  QRKDCCADYKSVCQGETSWLEENCDTAQQSQCPEGFDLPPVILFSMDGFRAEYLYTWDTL
  MPNINKLKTCGIHSKYMRAMYPTKTFPNHYTIVTGLYPESHGIIDNNMYDVNLNKNFSLS
  SKEQNNPAWWHGQPMWLTAMYQGLKAATYFWPGSEVAINGSFPSIYMPYNGSVPFEERIS
  TLLKWLDLPKAERPRFYTMYFEEPDSSGHAGGPVSARVIKALQVVDHAFGMLMEGLKQRN
  LHNCVNIILLADHGMDQTYCNKMEYMTDYFPRINFFYMYEGPAPRIRAHNIPHDFFSFNS
  EEIVRNLSCRKPDQHFKPYLTPDLPKRLHYAKNVRIDKVHLFVDQQWLAVRSKSNTNCGG
  GNHGYNNEFRSMEAIFLAHGPSFKEKTEVEPFENIEVYNLMCDLLRIQPAPNNGTHGSLN
  HLLKVPFYEPSHAEEVSKFSVCGFANPLPTESLDCFCPHLQNSTQLEQVNQMLNLTQEEI
  TATVKVNLPFGRPRVLQKNVDHCLLYHREYVSGFGKAMRMPMWSSYTVPQLGDTSPLPPT
  VPDCLRADVRVPPSESQKCSFYLADKNITHGFLYPPASNRTSDSQYDALITSNLVPMYEE
  FRKMWDYFHSVLLIKHATERNGVNVVSGPIFDYNYDGHFDAPDEITKHLANTDVPIPTHY
  FVVLTSCKNKSHTPENCPGWLDVLPFIIPHRPTNVESCPEGKPEALWVEERFTAHIARVR
  DVELLTGLDFYQDKVQPVSEILQLKTYLPTFETTI

• Sequence length: 875

Pathways

KEGG Pathway	Reactome Pathway
Purine metabolism	Vitamin B5 (pantothenate) metabolism
Pyrimidine metabolism
Starch and sucrose metabolism
Riboflavin metabolism
Nicotinate and nicotinamide metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
Nucleotide metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
GOUT	—	GWAS catalog	39406924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	31545351	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32499647, 32541925, 35551307, 40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (55)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	29045509	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	29045509		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	27196703, 29413340, 29702283		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	29702283		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32155989	Associate	★☆☆☆☆ Found in Text Mining only
Anaphylaxis	Anaphylaxis	Pubtator	15710010, 22975499, 26365388	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	31166440	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	10398311	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34382069	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27026044, 36685514, 39217320, 40534099	Associate	★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	15072822		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile Duct Diseases	BEFREE	15072822		★☆☆☆☆ Found in Text Mining only
Brachydactyly type C	Brachydactyly	BEFREE	15072822		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26831905, 8041963	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15886225		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	29614240		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	28238741		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	15072822		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14533006		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	14533006		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26589436		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	26585435	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	33674191	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35370964	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	29194839		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29194839, 31698766		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	31698766	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31276257	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24743710	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	38110882	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	29572500	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity	Hypersensitivity	Pubtator	22975499	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24743710	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	29572500	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21951951	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	29572500	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	19144265		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21951951		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	20036025		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	36274467	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14533006, 17597105, 26589436		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14533006		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	24478037		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	19144265	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	19144265, 21112036, 30804017		★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	Pubtator	38110882	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	33819512	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14533006, 15072822, 26589436		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	23912490		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32753678	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32645919	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26589436, 29848572		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic Seasonal	Seasonal allergic rhinitis	Pubtator	17624239	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	10398311	Associate	★☆☆☆☆ Found in Text Mining only
Tonsillitis	Tonsillitis	Pubtator	28894116	Inhibit	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ENPP1 8 shared pathwaysPurine metabolism, Pyrimidine metabolism, Starch and sucrose metabolism, Riboflavin metabolism, Nicotinate and nicotinamide metabolism, Pantothenate and CoA biosynthesis, Nucleotide metabolism, Vitamin B5 (pantothenate) metabolism Related via 8 shared pathways including Purine metabolism, Pyrimidine metabolism. NT5DC4 4 shared pathwaysPurine metabolism, Pyrimidine metabolism, Nicotinate and nicotinamide metabolism, Nucleotide metabolism Related via 4 shared pathways including Purine metabolism, Pyrimidine metabolism. NT5C1B-RDH14 4 shared pathwaysPurine metabolism, Pyrimidine metabolism, Nicotinate and nicotinamide metabolism, Nucleotide metabolism Related via 4 shared pathways including Purine metabolism, Pyrimidine metabolism. NT5M 4 shared pathwaysPurine metabolism, Pyrimidine metabolism, Nicotinate and nicotinamide metabolism, Nucleotide metabolism Related via 4 shared pathways including Purine metabolism, Pyrimidine metabolism. NT5C1B 4 shared pathwaysPurine metabolism, Pyrimidine metabolism, Nicotinate and nicotinamide metabolism, Nucleotide metabolism Related via 4 shared pathways including Purine metabolism, Pyrimidine metabolism.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ENPP1	0	[]	8	["Purine metabolism","Pyrimidine metabolism","Starch and sucrose metabolism","Riboflavin metabolism","Nicotinate and nicotinamide metabolism","Pantothenate and CoA biosynthesis","Nucleotide metabolism","Vitamin B5 (pantothenate) metabolism"]	0	[]
NT5DC4	0	[]	4	["Purine metabolism","Pyrimidine metabolism","Nicotinate and nicotinamide metabolism","Nucleotide metabolism"]	0	[]
NT5C1B-RDH14	0	[]	4	["Purine metabolism","Pyrimidine metabolism","Nicotinate and nicotinamide metabolism","Nucleotide metabolism"]	0	[]
NT5M	0	[]	4	["Purine metabolism","Pyrimidine metabolism","Nicotinate and nicotinamide metabolism","Nucleotide metabolism"]	0	[]
NT5C1B	0	[]	4	["Purine metabolism","Pyrimidine metabolism","Nicotinate and nicotinamide metabolism","Nucleotide metabolism"]	0	[]

Diseases Linked via Similar Genes

Corneal neovascularization Linked via 2 of 5 related genesNT5C1B-RDH14, NT5C1B Keratitis Linked via 2 of 5 related genesNT5C1B-RDH14, NT5C1B Hypophosphatemic rickets Linked via 1 of 5 related genesENPP1 Pseudoxanthoma elasticum Linked via 1 of 5 related genesENPP1 Cardiovascular disease Linked via 1 of 5 related genesENPP1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Corneal neovascularization	2	["NT5C1B-RDH14","NT5C1B"]
Keratitis	2	["NT5C1B-RDH14","NT5C1B"]
Hypophosphatemic rickets	1	["ENPP1"]
Pseudoxanthoma elasticum	1	["ENPP1"]
Cardiovascular disease	1	["ENPP1"]