Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55739
Gene name	NAD(P)HX dehydratase
Gene symbol	NAXD
Synonyms (NCBI Gene)	CARKDLP3298PEBEL2
Chromosome	13
Chromosome location	13q34

Show/Hide all (5)

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

Show/Hide all (18)

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
MIRT275679	hsa-miR-633	PAR-CLIP	21572407
MIRT551456	hsa-miR-2355-5p	PAR-CLIP	21572407
MIRT551455	hsa-miR-6888-3p	PAR-CLIP	21572407
MIRT551454	hsa-miR-511-5p	PAR-CLIP	21572407
MIRT275680	hsa-miR-2053	PAR-CLIP	21572407
MIRT551453	hsa-miR-4760-5p	PAR-CLIP	21572407
MIRT551452	hsa-miR-8061	PAR-CLIP	21572407
MIRT446975	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT446974	hsa-miR-4635	PAR-CLIP	22100165
MIRT446973	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT446975	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT446974	hsa-miR-4635	PAR-CLIP	22100165
MIRT446973	hsa-miR-488-3p	PAR-CLIP	22100165

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0016829	Function	Lyase activity	IEA
GO:0016836	Function	Hydro-lyase activity	IEA
GO:0034355	Process	NAD+ biosynthetic process via the salvage pathway	TAS
GO:0046496	Process	Nicotinamide nucleotide metabolic process	IEA
GO:0047453	Function	ATP-dependent NAD(P)H-hydrate dehydratase activity	IBA
GO:0047453	Function	ATP-dependent NAD(P)H-hydrate dehydratase activity	IEA
GO:0047453	Function	ATP-dependent NAD(P)H-hydrate dehydratase activity	IMP	30576410
GO:0047453	Function	ATP-dependent NAD(P)H-hydrate dehydratase activity	TAS
GO:0110051	Process	Metabolite repair	IBA

MIM	HGNC	e!Ensembl
615910	25576	ENSG00000213995

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

MVTRAGAGTAVAGAVVVALLSAALALYGPPLDAVLERAFSLRKAHSIKDMENTLQLVRNI
IPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYS
PELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVI
DADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGN
VTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSS
PLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET

Sequence length

347

Interactions

View interactions

	Reactome
			Nicotinamide salvaging

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
NAD(P)HX dehydratase deficiency	Likely pathogenic; Pathogenic	rs1331075407, rs2139640370, rs201720770, rs2501658190, rs2501698949, rs1566623786, rs778824382, rs1566614549, rs773887880, rs1886017689	RCV002244216 RCV002273130 RCV002279910 RCV002279911 RCV003152892 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NAXD-related disorder	Pathogenic	rs773887880	RCV003965558	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs2501676936	RCV005928584	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blast Crisis	Blast crisis	Pubtator	36834994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	38387170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	38387170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	36834994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	28785876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
NAD(P)HX dehydratase deficiency	Encephalopathy with brain edema and/or leukoencephalopathy	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36834994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30576410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Acute Hepatic	Porphyria	Pubtator	36834994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Acute Hepatic	Porphyria	Pubtator	36834994	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

NAXD (NAD(P)HX dehydratase)