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

    Gene ID: 133686, updated on 15-Jun-2019

    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

    Genomic context

    See NADK2 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (36192589..36242279, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (36192694..36242258, 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 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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    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
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    NAD+ kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    NAD metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NAD metabolic process TAS
    Traceable Author Statement
    more info
     
    NADP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    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)

    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_001287340.1NP_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_001287341.1NP_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_153013.4NP_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 Annotation Release 109

    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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