Gene Gene information from NCBI Gene database.
Entrez ID 59084
Gene name Ectonucleotide pyrophosphatase/phosphodiesterase family member 5
Gene symbol ENPP5
Synonyms (NCBI Gene)
NPP-5NPP5
Chromosome 6
Chromosome location 6p21.1
Summary This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]
miRNA miRNA information provided by mirtarbase database.
646
miRTarBase ID miRNA Experiments Reference
MIRT020237 hsa-miR-130b-3p Sequencing 20371350
MIRT031180 hsa-miR-19b-3p Sequencing 20371350
MIRT050870 hsa-miR-17-5p CLASH 23622248
MIRT712521 hsa-miR-3158-3p HITS-CLIP 19536157
MIRT712520 hsa-miR-3918 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000210 Function NAD+ diphosphatase activity IDA 28898552
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
GO:0007154 Process Cell communication IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617001 13717 ENSG00000112796
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJA9
Protein name Ectonucleotide pyrophosphatase/phosphodiesterase family member 5 (E-NPP 5) (NPP-5) (EC 3.1.-.-)
Protein function Can hydrolyze NAD but cannot hydrolyze nucleotide di- and triphosphates. Lacks lysopholipase D activity. May play a role in neuronal cell communication.
PDB 5VEM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01663 Phosphodiest 30 342 Type I phosphodiesterase / nucleotide pyrophosphatase Family
Sequence
Sequence length 477
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 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
LYMPHOID LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37689589 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma Pubtator 39342991 Stimulate
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 30678306 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer CTD_human_DG 17013881
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic Neoplasms CTD_human_DG 17013881
★★☆☆☆
Found in Text Mining + Unknown/Other Associations