ENPP3 (ectonucleotide pyrophosphatase/phosphodiesterase 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5169
Gene name Ectonucleotide pyrophosphatase/phosphodiesterase 3
Gene symbol ENPP3
Synonyms (NCBI Gene)
B10CD203cNPP3PD-IBETAPDNP3
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 miRNA information provided by mirtarbase database.
6
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602182 3358 ENSG00000154269
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 52 → 92 Somatomedin B domain Family
PF01033 Somatomedin_B 96 → 136 Somatomedin B domain Family
PF01663 Phosphodiest 161 → 486 Type I phosphodiesterase / nucleotide pyrophosphatase Family
PF01223 Endonuclease_NS 613 → 856 DNA/RNA non-specific endonuclease Domain
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Purine metabolism
Pyrimidine metabolism
Starch and sucrose metabolism
Riboflavin metabolism
Nicotinate and nicotinamide metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
Nucleotide metabolism 		  Vitamin B5 (pantothenate) metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (55)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 29045509
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 29045509 Associate
★★★★★
★☆☆☆☆
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