ENPP5 (ectonucleotide pyrophosphatase/phosphodiesterase family member 5)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 59084 |
| Gene name | Ectonucleotide pyrophosphatase/phosphodiesterase family member 5 |
| Gene symbol | ENPP5 |
| Synonyms (NCBI Gene) |
NPP-5NPP5
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| 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] |
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miRNA
miRNA information provided by mirtarbase database.
646
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence |
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| Sequence length | 477 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
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