Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55739
Gene name Gene Name - the full gene name approved by the HGNC.
NAD(P)HX dehydratase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NAXD
Synonyms (NCBI Gene) Gene synonyms aliases
CARKD, LP3298, PEBEL2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PEBEL2
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q34
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs767778853 C>G,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs773887880 AAGA>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs778824382 ->TT Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs1566614549 G>A Pathogenic Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1566623786 G>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT275676 hsa-miR-32-3p PAR-CLIP 21572407
MIRT275678 hsa-miR-576-3p PAR-CLIP 21572407
MIRT551458 hsa-miR-3120-5p PAR-CLIP 21572407
MIRT551457 hsa-miR-6830-3p PAR-CLIP 21572407
MIRT275677 hsa-miR-569 PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 32296183
GO:0005524 Function ATP binding IEA
GO:0005575 Component Cellular_component ND
GO:0005759 Component Mitochondrial matrix TAS
GO:0008150 Process Biological_process ND
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615910 25576 ENSG00000213995
Protein
UniProt ID Q8IW45
Protein name ATP-dependent (S)-NAD(P)H-hydrate dehydratase (EC 4.2.1.93) (ATP-dependent NAD(P)HX dehydratase) (Carbohydrate kinase domain-containing protein) (NAD(P)HX dehydratase)
Protein function Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01256 Carb_kinase 76 338 Carbohydrate kinase Family
Sequence
Sequence length 347
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nicotinamide salvaging
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental regression Developmental regression rs1224421127
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
21364753
Encephalopathy with brain edema and/or leukoencephalopathy NAD(P)HX dehydratase deficiency rs1566623786, rs778824382, rs1566614549, rs773887880
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease GenCC
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenine Nucleotide Translocator Deficiency Associate 38387170
Blast Crisis Associate 36834994
Brain Diseases Associate 38387170
Brain Edema Associate 38387170
Craniocerebral Trauma Associate 36834994
Fever Associate 36834994
Leukoencephalopathies Associate 38387170
Neurodegenerative Diseases Associate 36834994
Porphyria Acute Hepatic Associate 36834994
Porphyria Acute Hepatic Inhibit 36834994