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NADK2 NAD kinase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 133686, updated on 23-Nov-2021

Summary

Official Symbol
NADK2provided by HGNC
Official Full Name
NAD kinase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:26404
See related
Ensembl:ENSG00000152620 MIM:615787
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DECRD; MNADK; NADKD1; C5orf33
Summary
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]
Expression
Broad expression in liver (RPKM 62.0), brain (RPKM 14.1) and 22 other tissues See more
Orthologs
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Genomic context

See NADK2 in Genome Data Viewer
Location:
5p13.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (36192589..36242279, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (36192691..36242381, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene LMBR1 domain containing 2 Neighboring gene RNA, U6 small nuclear 1305, pseudogene Neighboring gene microRNA 580 Neighboring gene S-phase kinase associated protein 2 Neighboring gene NADK2 antisense RNA 1 Neighboring gene RAN binding protein 3 like Neighboring gene RNA, 5S ribosomal pseudogene 181

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30596, MGC43298

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables NAD+ kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables NAD+ kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in NAD metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in NAD metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in NADP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NAD kinase 2, mitochondrial
Names
NAD kinase domain-containing protein 1, mitochondrial
NP_001078880.1
NP_001274269.1
NP_001274270.1
NP_694558.1
XP_005248298.1
XP_024310128.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041784.1 RefSeqGene

    Range
    5001..54691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001085411.3NP_001078880.1  NAD kinase 2, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001078880.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008807, AI377881, BC062567, BM990433, BX648388, HY336341
    Consensus CDS
    CCDS47197.1
    UniProtKB/Swiss-Prot
    Q4G0N4
    Related
    ENSP00000371362.4, ENST00000381937.9
    Conserved Domains (1) summary
    cl01255
    Location:96318
    DAGK_cat; Diacylglycerol kinase catalytic domain
  2. NM_001287340.2NP_001274269.1  NAD kinase 2, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001274269.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AI377881, AK055158, BC062567, BM990433, BX648388, HY336341
    Consensus CDS
    CCDS3917.1
    UniProtKB/Swiss-Prot
    Q4G0N4
    UniProtKB/TrEMBL
    A0A024R048
    Related
    ENSP00000380499.1, ENST00000397338.5
    Conserved Domains (1) summary
    cl01255
    Location:2155
    DAGK_cat; Diacylglycerol kinase catalytic domain
  3. NM_001287341.2NP_001274270.1  NAD kinase 2, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001274270.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR, initiates translation at a downstream start codon, and contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AC008807, AK304009, BC062567, BM990433, BX648388, HY336341
    Consensus CDS
    CCDS75235.1
    UniProtKB/Swiss-Prot
    Q4G0N4
    UniProtKB/TrEMBL
    B7Z8V7
    Related
    ENSP00000422250.1, ENST00000506945.5
    Conserved Domains (1) summary
    cl01255
    Location:2177
    DAGK_cat; Diacylglycerol kinase catalytic domain
  4. NM_153013.5NP_694558.1  NAD kinase 2, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_694558.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AC008807, AK304009, BC062567, BM990433, BX648388, HY336341
    Consensus CDS
    CCDS3917.1
    UniProtKB/Swiss-Prot
    Q4G0N4
    UniProtKB/TrEMBL
    A0A024R048, B7Z8V7
    Related
    ENSP00000282512.3, ENST00000282512.7
    Conserved Domains (1) summary
    cl01255
    Location:2155
    DAGK_cat; Diacylglycerol kinase catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    36192589..36242279 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454360.1XP_024310128.1  NAD kinase 2, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl01255
    Location:2177
    DAGK_cat; Diacylglycerol kinase catalytic domain
  2. XM_005248241.4XP_005248298.1  NAD kinase 2, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl01255
    Location:96340
    DAGK_cat; Diacylglycerol kinase catalytic domain
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