NADK2

Protein identityUniProt · HPA

UniProt accession

Q4G0N4

Gene

NADK2

Ensembl

ENSG00000152620

Chromosome

5

Canonical length

442 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

442 residues, UniProt reviewed canonical sequence.

>Q4G0N4|NADK2
     1  MTCYRGFLLG SCCRVAGGRA AALRGPGAGG PAARPRLGGD GGGRRHLGQG QPRELAGCGS
    61  RADGGFRPSR VVVVAKTTRY EFEQQRYRYA ELSEEDLKQL LALKGSSYSG LLERHHIHTK
   121  NVEHIIDSLR NEGIEVRLVK RREYDEETVR WADAVIAAGG DGTMLLAASK VLDRLKPVIG
   181  VNTDPERSEG HLCLPVRYTH SFPEALQKFY RGEFRWLWRQ RIRLYLEGTG INPVPVDLHE
   241  QQLSLNQHNR ALNIERAHDE RSEASGPQLL PVRALNEVFI GESLSSRASY YEISVDDGPW
   301  EKQKSSGLNL CTGTGSKAWS FNINRVATQA VEDVLNIAKR QGNLSLPLNR ELVEKVTNEY
   361  NESLLYSPEE PKILFSIREP IANRVFSSSR QRCFSSKVCV RSRCWDACMV VDGGTSFEFN
   421  DGAIASMMIN KEDELRTVLL EQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NADK2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

307 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NADK2.

Disease | AllUniProt

Conditions NADK2 is implicated in, by any mechanism.

• 2,4-dienoyl-CoA reductase deficiency (DECRD) MIM:616034

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 303 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Progressive encephalopathy with leukodystrophy due to DECR deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.52

gnomAD pLI

0.07

gnomAD missense Z

2.05

DepMap mean gene effect

0.1

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• NAD+ metabolic process
• NADP+ biosynthetic process

Molecular functions

• ATP binding
• NAD+ kinase activity
• protein homodimerization activity

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• NAD kinase
• NAD kinase/diacylglycerol kinase-like domain superfamily
• ATP-NAD kinase, PpnK-type, C-terminal
• Inorganic polyphosphate/ATP-NAD kinase, N-terminal
• ATP-NAD kinase N-terminal domain
• NAD kinase 2, mitochondrial

KeywordsUniProt

• Acetylation
• ATP-binding
• Kinase
• Mitochondrion
• NAD
• NADP
• Nucleotide-binding
• Phosphoprotein
• Transferase
• Transit peptide