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    Pank2 pantothenate kinase 2 [ Mus musculus (house mouse) ]

    Gene ID: 74450, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pank2provided by MGI
    Official Full Name
    pantothenate kinase 2provided by MGI
    Primary source
    MGI:MGI:1921700
    See related
    Ensembl:ENSMUSG00000037514 AllianceGenome:MGI:1921700
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    hPanK2; 4933409I19Rik
    Summary
    Enables pantothenate kinase activity. Involved in coenzyme A biosynthetic process. Acts upstream of or within several processes, including aerobic respiration; regulation of mitochondrial membrane potential; and spermatid development. Located in cytosol and mitochondrion. Is active in mitochondrial intermembrane space. Human ortholog(s) of this gene implicated in pantothenate kinase-associated neurodegeneration. Orthologous to human PANK2 (pantothenate kinase 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 13.4), limb E14.5 (RPKM 11.1) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Pank2 in Genome Data Viewer
    Location:
    2 F1; 2 63.31 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (131103928..131141108)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (131262008..131299188)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene adaptor-related protein 5 complex, sigma 1 subunit Neighboring gene STARR-seq mESC enhancer starr_05703 Neighboring gene STARR-positive B cell enhancer ABC_E4499 Neighboring gene mitochondrial antiviral signaling protein Neighboring gene STARR-positive B cell enhancer ABC_E5984 Neighboring gene STARR-seq mESC enhancer starr_05706 Neighboring gene STARR-seq mESC enhancer starr_05707 Neighboring gene microRNA 103-2 Neighboring gene ring finger protein 24 Neighboring gene small nuclear ribonucleoprotein E, pseudogene Neighboring gene predicted gene, 30590

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC118448

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables pantothenate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables pantothenate kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pantothenate kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables pantothenate kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables pantothenate kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within aerobic respiration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in coenzyme A biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in coenzyme A biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coenzyme A biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within coenzyme A biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in coenzyme A biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of bile acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of bile acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of fatty acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of triglyceride metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    NOT located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    pantothenate kinase 2, mitochondrial
    Names
    pantothenate kinase 2 (Hallervorden-Spatz syndrome)
    pantothenic acid kinase 2
    NP_001342608.1
    NP_001342610.1
    NP_001342611.1
    NP_001342612.1
    NP_705721.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001355679.1NP_001342608.1  pantothenate kinase 2, mitochondrial isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK082821, AL808128
      Related
      ENSMUST00000131779.8
      Conserved Domains (1) summary
      pfam03630
      Location:87344
      Fumble
    2. NM_001355681.1NP_001342610.1  pantothenate kinase 2, mitochondrial isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AL808128
      Conserved Domains (1) summary
      pfam03630
      Location:1271
      Fumble
    3. NM_001355682.1NP_001342611.1  pantothenate kinase 2, mitochondrial isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AL808128
      Conserved Domains (1) summary
      pfam03630
      Location:1271
      Fumble
    4. NM_001355683.1NP_001342612.1  pantothenate kinase 2, mitochondrial isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks three alternate coding exons compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AL808128
      Conserved Domains (1) summary
      cl17037
      Location:87250
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    5. NM_153501.3NP_705721.3  pantothenate kinase 2, mitochondrial isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). It uses a non-AUG translation start site (PMID: 15105273).
      Source sequence(s)
      AL808128
      Consensus CDS
      CCDS16761.1
      UniProtKB/Swiss-Prot
      Q3U4S0, Q7M753
      Related
      ENSMUSP00000119606.3, ENSMUST00000150843.9
      Conserved Domains (1) summary
      pfam03630
      Location:100448
      Fumble

    RNA

    1. NR_149747.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL808128
      Related
      ENSMUST00000184932.9
    2. NR_149748.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' end and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK016755, AL808128

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      131103928..131141108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)