Gene Gene information from NCBI Gene database.
Entrez ID 83594
Gene name Nudix hydrolase 12
Gene symbol NUDT12
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q21.2
Summary Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response t
miRNA miRNA information provided by mirtarbase database.
250
miRTarBase ID miRNA Experiments Reference
MIRT025180 hsa-miR-181a-5p Microarray 17612493
MIRT442632 hsa-miR-3662 PAR-CLIP 22100165
MIRT442631 hsa-miR-3646 PAR-CLIP 22100165
MIRT442630 hsa-miR-33a-3p PAR-CLIP 22100165
MIRT442629 hsa-miR-4307 PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000210 Function NAD+ diphosphatase activity IDA 12790796
GO:0000210 Function NAD+ diphosphatase activity IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0000287 Function Magnesium ion binding ISS
GO:0005515 Function Protein binding IPI 25416956, 25910212, 28514442, 31515488, 31875550, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609232 18826 ENSG00000112874
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQG2
Protein name NAD-capped RNA hydrolase NUDT12 (DeNADding enzyme NUDT12) (EC 3.6.1.-) (NADH pyrophosphatase NUDT12) (EC 3.6.1.22) (Nucleoside diphosphate-linked moiety X motif 12) (Nudix motif 12)
Protein function mRNA decapping enzyme that specifically removes the nicotinamide adenine dinucleotide (NAD) cap from a subset of mRNAs by hydrolyzing the diphosphate linkage to produce nicotinamide mononucleotide (NMN) and 5' monophosphate mRNA (PubMed:31101919
PDB 6SCX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 11 107 Ankyrin repeats (3 copies) Repeat
PF09296 NUDIX-like 147 277 NADH pyrophosphatase-like rudimentary NUDIX domain Domain
PF09297 zf-NADH-PPase 279 309 NADH pyrophosphatase zinc ribbon domain Domain
PF00293 NUDIX 320 441 NUDIX domain Domain
Sequence
Sequence length 462
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nicotinate and nicotinamide metabolism
Metabolic pathways
Peroxisome
  Nicotinamide salvaging
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF KIDNEY AND URINARY TRACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Neoplasm Metastasis Associate 38433022
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 38433022
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Associate 30765504
★☆☆☆☆
Found in Text Mining only