Gene Gene information from NCBI Gene database.
Entrez ID 64943
Gene name 5'-nucleotidase domain containing 2
Gene symbol NT5DC2
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p21.1
miRNA miRNA information provided by mirtarbase database.
11
miRTarBase ID miRNA Experiments Reference
MIRT030270 hsa-miR-26b-5p Microarray 19088304
MIRT052241 hsa-let-7b-5p CLASH 23622248
MIRT051686 hsa-let-7e-5p CLASH 23622248
MIRT051291 hsa-miR-16-5p CLASH 23622248
MIRT046905 hsa-miR-221-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0005739 Component Mitochondrion HTP 34800366
GO:0008253 Function 5'-nucleotidase activity IBA
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621077 25717 ENSG00000168268
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H857
Protein name 5'-nucleotidase domain-containing protein 2 (EC 3.1.3.-)
Protein function Promotes dephosphorylation of tyrosine 3-monooxygenase TH which decreases TH catalytic activity and leads to reduced synthesis of catecholamines including dopamine, noradrenaline and adrenaline. The exact mechanism of activity is unknown but may
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05761 5_nucleotid 56 497 Family
Sequence
Sequence length 520
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE 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
Borderline Personality Disorder Borderline personality disorder Pubtator 25612291 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 30978441
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36820551 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 39596612 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major Major depressive disorder Pubtator 25612291 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 30978441
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 30978441
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 30978441
★☆☆☆☆
Found in Text Mining only
Hepatoblastoma Hepatoblastoma Pubtator 39684755 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only