Free for academic non-profit institutions. Other users need a Commercial license

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, Type I. Among its related pathways are NAD metabolism and Metabolism. Gene Ontology (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.

Additional gene information for NADK2 Gene

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

Genomics for NADK2 Gene

GeneHancer (GH) Regulatory Elements for NADK2 Gene

Promoters and enhancers for NADK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I036238 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 557.9 +1.0 1036 4.7 MLX FEZF1 DMAP1 YY1 E2F8 ZNF143 ZNF548 SP3 NFYC ZNF610 NADK2 NIPBL OFD1P17 RANBP3L NADK2-AS1 SLC1A3
GH05I036237 Promoter 0.7 EPDnew 550.8 +4.6 4565 0.1 MTA3 ZEB2 CHAMP1 NADK2 NADK2-AS1
GH05I036691 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -450.1 -450134 2.3 CTCF RB1 ZNF449 JUN MAX SIN3A RAD21 RFX5 ZNF121 SMC3 ENSG00000250155 SLC1A3 NADK2 RANBP3L NIPBL ENSG00000279400 GC05P036714
GH05I036682 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 -442.3 -442254 3.7 SMARCA5 NR2F1 ZBED1 MAX JUNB CEBPB CEBPG BATF POLR2A SMARCC2 ENSG00000250155 SLC1A3 NADK2 RANBP3L ENSG00000279400 GC05P036714
GH05I036300 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 5.9 -59.4 -59374 2.2 FOXA2 FEZF1 ZNF2 YY1 ZNF213 KLF7 ATF7 RXRA TSHZ1 REST RANBP3L NIPBL RNU6-1305P NADK2 SLC1A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NADK2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NADK2 Gene

Genomic Locations for NADK2 Gene
chr5:36,192,589-36,242,279
(GRCh38/hg38)
Size:
49,691 bases
Orientation:
Minus strand
chr5:36,192,694-36,242,381
(GRCh37/hg19)

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 Lys104
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NADK2 Gene

Domains & Families for NADK2 Gene

Gene Families for NADK2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog for NADK2 Gene

Gene Ontology (GO) - Molecular Function for NADK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003951 NAD+ kinase activity TAS,IEA --
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

Clone 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
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NADK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NADK2 Gene

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 TAS,IEA --
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
ATP Investigational Nutra Agonist 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

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for NADK2 Gene

  • Nervous system(4.6)
  • Liver(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NADK2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • head
  • skull
Limb:
  • lower limb
  • upper limb
General:
  • spinal cord
genes like me logo Genes that share expression patterns with NADK2: view

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 34
  • 100 (a)
OneToOne
NADKD1 33
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia NADK2 33
  • 93.51 (n)
cow
(Bos Taurus)
Mammalia NADKD1 33
  • 91.78 (n)
NADK2 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nadk2 33
  • 89.4 (n)
mouse
(Mus musculus)
Mammalia Nadk2 33 16 34
  • 89.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NADK2 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NADK2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NADKD1 33
  • 79.09 (n)
NADK2 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NADK2 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nadk2 33
  • 72.07 (n)
Str.11200 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2638 33
zebrafish
(Danio rerio)
Actinopterygii nadk2 33 34
  • 66.43 (n)
Dr.13238 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7246 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006767 33
  • 46.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8080 33 34
  • 46.65 (n)
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.10 33 34
  • 51.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2100 34
  • 42 (a)
OneToMany
-- 34
  • 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 Variation AA Info Type
rs587777772 pathogenic, 2,4-Dienoyl-CoA reductase deficiency 36,200,275(-) G/A coding_sequence_variant, stop_gained
rs6891700 benign, not specified, 2,4-Dienoyl-CoA reductase deficiency 36,241,541(-) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant, upstream_transcript_variant
rs79189380 benign, not specified, 2,4-Dienoyl-CoA reductase deficiency 36,197,627(-) C/T coding_sequence_variant, synonymous_variant
rs1057522101 likely-benign, not specified 36,241,846(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs140121684 likely-benign, not specified 36,242,094(-) A/G genic_upstream_transcript_variant, splice_donor_variant, upstream_transcript_variant

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

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

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)

Additional Variant Information for NADK2 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
2,4-dienoyl-coa reductase deficiency
  • decrd
hyperlysinemia, type i
  • lysine:alpha-ketoglutarate reductase 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.

Additional Disease Information for 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 SM … Wanders RJ (Human molecular genetics 2014) 3 4 58
  2. MNADK, a novel liver-enriched mitochondrion-localized NAD kinase. (PMID: 23616928) Zhang R (Biology open 2013) 2 3 58
  3. Identification and characterization of a human mitochondrial NAD kinase. (PMID: 23212377) Ohashi K … Murata K (Nature communications 2012) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for NADK2 Gene

Sources for NADK2 Gene

Content
Loading form....