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Aliases for NADK2 Gene

Aliases for NADK2 Gene

  • NAD Kinase 2, Mitochondrial 2 3 5
  • NAD Kinase Domain-Containing Protein 1, Mitochondrial 3 4
  • Mitochondrial NAD Kinase 2 4
  • C5orf33 3 4
  • NADKD1 3 4
  • MNADK 3 4
  • Chromosome 5 Open Reading Frame 33 2
  • NAD Kinase Domain Containing 1 2
  • EC 2.7.1.23 4
  • DECRD 3

External Ids for NADK2 Gene

Previous HGNC Symbols for NADK2 Gene

  • C5orf33
  • NADKD1

Summaries for NADK2 Gene

Entrez Gene Summary for NADK2 Gene

  • This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for NADK2 Gene

NADK2 (NAD Kinase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with NADK2 include 2,4-Dienoyl-Coa Reductase Deficiency and Hyperlysinemia. Among its related pathways are Nicotinate and nicotinamide metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and NAD+ kinase activity.

UniProtKB/Swiss-Prot for NADK2 Gene

  • Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NADK2 Gene

Genomics for NADK2 Gene

Regulatory Elements for NADK2 Gene

Enhancers for NADK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F036688 1.7 FANTOM5 Ensembl ENCODE 11.3 -448.9 -448922 4.8 PKNOX1 WRNIP1 SIN3A ZNF2 ZNF416 ZNF207 ZNF143 DEK ZNF263 SP3 WDR70 ENSG00000250155 ENSG00000250455 LOC105374724 LOC100506406 SLC1A3 C5orf42 NADK2 RANBP3L NIPBL
GH05F036238 1.5 FANTOM5 ENCODE 7.9 +1.0 1037 4.7 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC RANBP3L OFD1P17 ENSG00000272103 SPEF2 NADK2 SLC1A3 NADK2-AS1
GH05F036682 0.9 Ensembl ENCODE 11.3 -442.3 -442254 3.7 ZBED1 MAX JUNB CEBPB CEBPG REST EED SMARCC2 TCF7 ETV6 ENSG00000250155 C5orf42 SLC1A3 NADK2 RANBP3L ENSG00000279400 GC05P036714
GH05F036300 1.2 FANTOM5 ENCODE 5.9 -59.4 -59374 2.2 INSM2 FEZF1 RAD21 ZNF2 YY1 ZEB1 ZNF366 SCRT2 KLF7 ZNF391 RNU6-1305P NADK2 RANBP3L SLC1A3
GH05F036150 1.7 FANTOM5 Ensembl ENCODE 1.7 +87.1 87090 9.4 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 NADK2-AS1 UGT3A2 ENSG00000272103 ENSG00000251591 LMBRD2 SKP2 NADK2 RNU6-1305P PIR31598
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NADK2 on UCSC Golden Path with GeneCards custom track

Promoters for NADK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001408546 879 2801 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC SSRP1 ZNF610

Genomic Location for NADK2 Gene

Chromosome:
5
Start:
36,192,589 bp from pter
End:
36,242,279 bp from pter
Size:
49,691 bases
Orientation:
Minus strand

Genomic View for NADK2 Gene

Genes around NADK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NADK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NADK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NADK2 Gene

Proteins for NADK2 Gene

  • Protein details for NADK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0N4-NAKD2_HUMAN
    Recommended name:
    NAD kinase 2, mitochondrial
    Protein Accession:
    Q4G0N4
    Secondary Accessions:
    • B5MC93
    • Q6UTX5
    • Q96NM0

    Protein attributes for NADK2 Gene

    Size:
    442 amino acids
    Molecular mass:
    49433 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for NADK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NADK2 Gene

Post-translational modifications for NADK2 Gene

  • Ubiquitination at Lys 104
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NADK2 Gene

Domains & Families for NADK2 Gene

Suggested Antigen Peptide Sequences for NADK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q4G0N4

UniProtKB/Swiss-Prot:

NAKD2_HUMAN :
  • Belongs to the NAD kinase family.
Family:
  • Belongs to the NAD kinase family.
genes like me logo Genes that share domains with NADK2: view

No data available for Gene Families for NADK2 Gene

Function for NADK2 Gene

Molecular function for NADK2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.022 mM for NAD(+) {ECO:0000269 PubMed:23212377}; KM=1.7 mM for ATP {ECO:0000269 PubMed:23212377}; KM=1.2 mM for tetrapolyphosphate {ECO:0000269 PubMed:23212377}; Vmax=0.091 umol/min/mg enzyme {ECO:0000269 PubMed:23212377};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + NAD(+) = ADP + NADP(+).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by NADH, NADPH and NADP(+).
UniProtKB/Swiss-Prot Function:
Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo.

Enzyme Numbers (IUBMB) for NADK2 Gene

Gene Ontology (GO) - Molecular Function for NADK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003951 NAD+ kinase activity IEA,IDA 23212377
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0042803 protein homodimerization activity IDA 23212377
genes like me logo Genes that share ontologies with NADK2: view
genes like me logo Genes that share phenotypes with NADK2: view

Human Phenotype Ontology for NADK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NADK2 Gene

MGI Knock Outs for NADK2:

Animal Model Products

miRNA for NADK2 Gene

miRTarBase miRNAs that target NADK2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for NADK2 Gene

Localization for NADK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NADK2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NADK2 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NADK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 23212377
genes like me logo Genes that share ontologies with NADK2: view

Pathways & Interactions for NADK2 Gene

genes like me logo Genes that share pathways with NADK2: view

Pathways by source for NADK2 Gene

Gene Ontology (GO) - Biological Process for NADK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006741 NADP biosynthetic process IEA --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0019674 NAD metabolic process IEA,IDA 23212377
genes like me logo Genes that share ontologies with NADK2: view

No data available for SIGNOR curated interactions for NADK2 Gene

Drugs & Compounds for NADK2 Gene

(2) Drugs for NADK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
NAD Pharma Full agonist, Agonist 0

(2) Additional Compounds for NADK2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with NADK2: view

Transcripts for NADK2 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NADK2 Gene

No ASD Table

Relevant External Links for NADK2 Gene

GeneLoc Exon Structure for
NADK2
ECgene alternative splicing isoforms for
NADK2

Expression for NADK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NADK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NADK2 Gene

This gene is overexpressed in Liver (x7.6).

Protein differential expression in normal tissues from HIPED for NADK2 Gene

This gene is overexpressed in Liver (11.6), Gallbladder (8.0), and Fetal Liver (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NADK2 Gene



Protein tissue co-expression partners for NADK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NADK2 Gene:

NADK2

mRNA Expression by UniProt/SwissProt for NADK2 Gene:

Q4G0N4-NAKD2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with NADK2: view

Primer Products

Orthologs for NADK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NADK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NADK2 35
  • 100 (a)
OneToOne
NADKD1 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia NADK2 34
  • 93.51 (n)
cow
(Bos Taurus)
Mammalia NADKD1 34
  • 91.78 (n)
NADK2 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nadk2 34
  • 89.4 (n)
mouse
(Mus musculus)
Mammalia Nadk2 34 16 35
  • 89.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NADK2 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NADK2 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NADKD1 34
  • 79.09 (n)
NADK2 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NADK2 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nadk2 34
  • 72.07 (n)
Str.11200 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2638 34
zebrafish
(Danio rerio)
Actinopterygii nadk2 34 35
  • 66.43 (n)
Dr.13238 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7246 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006767 34
  • 46.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8080 34 35
  • 46.65 (n)
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.10 34 35
  • 51.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2100 35
  • 42 (a)
OneToMany
-- 35
  • 33 (a)
OneToMany
Species where no ortholog for NADK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NADK2 Gene

ENSEMBL:
Gene Tree for NADK2 (if available)
TreeFam:
Gene Tree for NADK2 (if available)

Paralogs for NADK2 Gene

(1) SIMAP similar genes for NADK2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for NADK2 Gene

genes like me logo Genes that share paralogs with NADK2: view

No data available for Paralogs for NADK2 Gene

Variants for NADK2 Gene

Sequence variations from dbSNP and Humsavar for NADK2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs587777772 Pathogenic 36,200,275(+) TTGTC(A/G)TTTTG reference, stop-gained
rs10036967 -- 36,222,534(+) ACTAG(A/G)AAAGC intron-variant
rs10045424 -- 36,222,455(+) GATCC(C/T)AGAAA intron-variant
rs10051604 -- 36,228,877(+) CACCT(C/T)GCTTC intron-variant
rs10062736 -- 36,243,603(+) TTTGC(A/G)TCTCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NADK2 Gene

Variant ID Type Subtype PubMed ID
nsv830262 CNV gain 17160897
nsv1015638 CNV gain 25217958
esv3604713 CNV gain 21293372
esv3604707 CNV gain 21293372

Variation tolerance for NADK2 Gene

Residual Variation Intolerance Score: 57.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NADK2 Gene

Human Gene Mutation Database (HGMD)
NADK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NADK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NADK2 Gene

Disorders for NADK2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NADK2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
2,4-dienoyl-coa reductase deficiency
  • 2,4-@dienoyl-coa reductase deficiency
hyperlysinemia
  • alpha-aminoadipic semialdehyde synthase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search NADK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NAKD2_HUMAN
  • 2,4-dienoyl-CoA reductase deficiency (DECRD) [MIM:616034]: A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. {ECO:0000269 PubMed:24847004}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NADK2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NADK2
genes like me logo Genes that share disorders with NADK2: view

No data available for Genatlas for NADK2 Gene

Publications for NADK2 Gene

  1. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. (PMID: 24847004) Houten S.M. … Wanders R.J. (Hum. Mol. Genet. 2014) 3 4 64
  2. MNADK, a novel liver-enriched mitochondrion-localized NAD kinase. (PMID: 23616928) Zhang R. (Biol Open 2013) 2 3 64
  3. Identification and characterization of a human mitochondrial NAD kinase. (PMID: 23212377) Ohashi K. … Murata K. (Nat. Commun. 2012) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for NADK2 Gene

Sources for NADK2 Gene

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