Gene Gene information from NCBI Gene database.
Entrez ID 9583
Gene name Ectonucleoside triphosphate diphosphohydrolase 4
Gene symbol ENTPD4
Synonyms (NCBI Gene)
LALP70LAP70LYSAL1NTPDase-4UDPase
Chromosome 8
Chromosome location 8p21.3
Summary This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role
miRNA miRNA information provided by mirtarbase database.
396
miRTarBase ID miRNA Experiments Reference
MIRT003083 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT016853 hsa-miR-335-5p Microarray 18185580
MIRT051917 hsa-let-7b-5p CLASH 23622248
MIRT051917 hsa-let-7b-5p CLASH 23622248
MIRT051917 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 9556635
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000421 Component Autophagosome membrane IDA 10393803
GO:0000421 Component Autophagosome membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607577 14573 ENSG00000197217
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y227
Protein name Ectonucleoside triphosphate diphosphohydrolase 4 (NTPDase 4) (EC 3.6.1.15) (EC 3.6.1.6) (Golgi UDPase) (Lysosomal apyrase-like protein of 70 kDa) (Uridine-diphosphatase) (UDPase) (EC 3.6.1.42)
Protein function [Isoform 1]: Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner, with a preference for pyrimidines. Preferentially hydrolyzes UTP and TTP. AMP, ADP, ATP and UMP are not substrates (P
PDB 6WG5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01150 GDA1_CD39 80 549 GDA1/CD39 (nucleoside phosphatase) family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highest expression in testis and lowest in bladder. {ECO:0000269|PubMed:10393803, ECO:0000269|PubMed:9556635}.
Sequence
Sequence length 616
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
Lysosome
  Phosphate bond hydrolysis by NTPDase proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
CEREBRAL PALSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA 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
Intracranial Aneurysm Intracranial aneurysm Pubtator 40389926 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 22992974
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 20537721
★☆☆☆☆
Found in Text Mining only