Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
318
Gene name Gene Name - the full gene name approved by the HGNC.
Nudix hydrolase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUDT2
Synonyms (NCBI Gene) Gene synonyms aliases
APAH1, IDDPN
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDPN
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asym
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs529087882 A>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT042526 hsa-miR-423-3p CLASH 23622248
MIRT037637 hsa-miR-744-5p CLASH 23622248
MIRT1198047 hsa-miR-4537 CLIP-seq
MIRT1198048 hsa-miR-4686 CLIP-seq
MIRT1198049 hsa-miR-4719 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004081 Function Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity IBA 21873635
GO:0004081 Function Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity ISS 11738085
GO:0004081 Function Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity TAS
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005525 Function GTP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602852 8049 ENSG00000164978
Protein
UniProt ID P50583
Protein name Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] (EC 3.6.1.17) (Diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase) (Ap4A hydrolase) (Ap4Aase) (Diadenosine tetraphosphatase) (Nucleoside diphosphate-linked moiety X motif 2) (Nudix motif 2)
Protein function Catalyzes the asymmetric hydrolysis of diadenosine 5',5'''-P1,P4-tetraphosphate (Ap4A) to yield AMP and ATP (By similarity). Exhibits decapping activity towards FAD-capped RNAs and dpCoA-capped RNAs in vitro (By similarity). {ECO:0000250|UniProt
PDB 1XSA , 1XSB , 1XSC , 3U53 , 4ICK , 4IJX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00293 NUDIX 12 137 NUDIX domain Domain
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Pyrimidine metabolism
Metabolic pathways
  Detoxification of Reactive Oxygen Species
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
20533549
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
20533549
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
30059600
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
20533549
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 38243213
Basal Ganglia Diseases Associate 38141063
Disease Associate 38141063
Gait Disorders Neurologic Associate 38141063
Heredodegenerative Disorders Nervous System Associate 38141063
Hypersensitivity Delayed Associate 38243213
Inflammation Associate 27144453
Intellectual Disability Associate 33058507, 38243213
Muscle Weakness Associate 33058507
Neoplasms Associate 27144453