Gene Gene information from NCBI Gene database.
Entrez ID 133121
Gene name Ectonucleotide pyrophosphatase/phosphodiesterase 6
Gene symbol ENPP6
Synonyms (NCBI Gene)
NPP6
Chromosome 4
Chromosome location 4q35.1
miRNA miRNA information provided by mirtarbase database.
360
miRTarBase ID miRNA Experiments Reference
MIRT019285 hsa-miR-148b-3p Microarray 17612493
MIRT509884 hsa-miR-6512-5p PAR-CLIP 20371350
MIRT509883 hsa-miR-506-5p PAR-CLIP 20371350
MIRT509882 hsa-miR-4436a PAR-CLIP 20371350
MIRT509881 hsa-miR-5000-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IDA 15788404
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 15788404
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616983 23409 ENSG00000164303
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UWR7
Protein name Glycerophosphocholine cholinephosphodiesterase ENPP6 (GPC-Cpde) (EC 3.1.4.-) (EC 3.1.4.38) (Choline-specific glycerophosphodiester phosphodiesterase) (Ectonucleotide pyrophosphatase/phosphodiesterase family member 6) (E-NPP 6) (NPP-6)
Protein function Choline-specific glycerophosphodiesterase that hydrolyzes glycerophosphocholine (GPC) and lysophosphatidylcholine (LPC) and contributes to supplying choline to the cells (PubMed:15788404). Has a preference for LPC with short (12:0 and 14:0) or p
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01663 Phosphodiest 26 357 Type I phosphodiesterase / nucleotide pyrophosphatase Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in kidney and brain. In the kidney, expressed specifically in the proximal tubules and thin descending limbs of Henle (at protein level). {ECO:0000269|PubMed:15788404}.
Sequence
Sequence length 440
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ether lipid metabolism
Metabolic pathways
  Glycerophospholipid catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOOD DISORDER GWAS catalog
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 36776048 Associate
★☆☆☆☆
Found in Text Mining only
Sleep Initiation and Maintenance Disorders Sleep Disorders GWASCAT_DG 29520036
★☆☆☆☆
Found in Text Mining only