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    PANK2 pantothenate kinase 2 [ Homo sapiens (human) ]

    Gene ID: 80025, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PANK2provided by HGNC
    Official Full Name
    pantothenate kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:15894
    See related
    Ensembl:ENSG00000125779 MIM:606157; AllianceGenome:HGNC:15894
    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
    HSS; HARP; PKAN; NBIA1; C20orf48
    Summary
    This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PANK2 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3888781..3929887)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3919717..3960811)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3869428..3910534)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3800994-3801697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3811623-3812123 Neighboring gene adaptor related protein complex 5 subunit sigma 1 Neighboring gene NFE2L2 motif-containing MPRA enhancer 155/156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12633 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3831491-3831992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3838319-3838818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3846659-3847160 Neighboring gene mitochondrial antiviral signaling protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3869109-3869660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12635 Neighboring gene PANK2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3886163-3886663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17489 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60118 Neighboring gene microRNA 103a-2 Neighboring gene microRNA 103b-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17490 Neighboring gene ring finger protein 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3996195-3997127 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3997331-3997932 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4014121-4014765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17491 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4026722-4027222 Neighboring gene ferritin light chain pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4027223-4027723 Neighboring gene ribosomal protein L21 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome. Mak CM, et al. Int J Neurosci, 2011 Apr. PMID 21198414
    2. A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication. Kazek B, et al. J Child Neurol, 2007 Nov. PMID 18006953
    3. Focal hand dystonia in a patient with PANK2 mutation. Chung SJ, et al. Mov Disord, 2008 Feb 15. PMID 18074375
    4. Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation. Chan KY, et al. Hong Kong Med J, 2008 Feb. PMID 18239249
    5. Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation. Wu YR, et al. Mov Disord, 2009 Apr 30. PMID 19224615

    See all (99) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.
      Title: Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.
    2. The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.
      Title: The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.
    3. Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.
      Title: Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.
    4. Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
      Title: Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
    5. PANK2 p.A170fsa novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family.
      Title: PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family.
    6. Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
      Title: Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
    7. A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
      Title: A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
    8. PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
      Title: PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
    9. Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos.
      Title: Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos.
    10. A novel PANK2 mutation was identified in South East Asian population in Thailand with pantothenate kinase associated neurodegeneration.
      Title: Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.
    Submit: New GeneRIF Correction See all GeneRIFs (63)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ17232, MGC15053

    Gene Ontology Provided by GOA

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables pantothenate kinase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables pantothenate kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in coenzyme A biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pantothenate metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in phosphorylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of bile acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitochondrial membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of triglyceride metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pantothenate kinase 2, mitochondrial
    Names
    Hallervorden-Spatz syndrome
    pantothenate kinase-associated neurodegeneration
    pantothenic acid kinase 2
    NP_001311120.1
    NP_001311121.1
    NP_001311122.1
    NP_001373322.1
    NP_079236.3
    NP_705902.2
    NP_705904.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_008131.3 RefSeqGene

      Range
      5085..46049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1016

    mRNA and Protein(s)

    1. NM_001324191.2 → NP_001311120.1  pantothenate kinase 2, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL031670, AL353194, BX118574
      Consensus CDS
      CCDS13072.1
      UniProtKB/Swiss-Prot
      Q9BZ23
      Conserved Domains (1) summary
      pfam03630
      Location:1 → 271
      Fumble

    2. NM_001324192.1 → NP_001311121.1  pantothenate kinase 2, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL353194, BF223391

    3. NM_001324193.2 → NP_001311122.1  pantothenate kinase 2, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL031670, AL532307, BC107724, BX118574
      UniProtKB/TrEMBL
      V9GYH1
      Related
      ENSP00000476745.1, ENST00000495692.5
      Conserved Domains (1) summary
      cl17037
      Location:1 → 126
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    4. NM_001386393.1 → NP_001373322.1  pantothenate kinase 2, mitochondrial isoform 7 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) uses a downstream transcription start site and a downstream non-AUG translation start site, compared to variant 1. The encoded isoform (7) is also mitochondrially localized but has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL031670, AL353194
      Consensus CDS
      CCDS93004.1
      UniProtKB/TrEMBL
      A0A2R8YF29
      Related
      ENSP00000477429.2, ENST00000610179.7
      Conserved Domains (1) summary
      pfam03630
      Location:104 → 452
      Fumble

    5. NM_024960.6 → NP_079236.3  pantothenate kinase 2, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_079236.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate first exon, and uses a downstream translation initiation site, compared to variant 1. The resulting protein (isoform 2) lacks an N-terminal segment compared to isoform 1, resulting in a shorter protein that shares identity through the C-terminus. Isoform 2 is not expressed in mitochondria. Variants 2, 3 and 7 encode isoform 2.
      Source sequence(s)
      AK021791, AL031670, AL353194, BX118574
      Consensus CDS
      CCDS13072.1
      UniProtKB/Swiss-Prot
      Q9BZ23
      Related
      ENSP00000417609.1, ENST00000497424.5
      Conserved Domains (1) summary
      pfam03630
      Location:1 → 271
      Fumble

    6. NM_153638.4 → NP_705902.2  pantothenate kinase 2, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_705902.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest mitochondrially localized isoform (1). It uses upstream transcription and translation start sites, compared to variant 11.
      Source sequence(s)
      AL031670, AL353194
      Consensus CDS
      CCDS13071.2
      UniProtKB/Swiss-Prot
      B1AK33, B2Z3X0, D3DVZ0, Q5T7I2, Q5T7I4, Q7RTX5, Q8N7Q4, Q8TCR5, Q9BYW5, Q9BZ23, Q9HAF2
      Related
      ENSP00000313377.4, ENST00000316562.9
      Conserved Domains (1) summary
      pfam03630
      Location:214 → 562
      Fumble; Fumble

    7. NM_153640.4 → NP_705904.1  pantothenate kinase 2, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_705904.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate first exon, and uses a downstream translation initiation site, compared to variant 1. The resulting protein (isoform 2) lacks an N-terminal segment compared to isoform 1, resulting in a shorter protein that shares identity through the C-terminus. Isoform 2 is not expressed in mitochondria. Variants 2, 3 and 7 encode isoform 2.
      Source sequence(s)
      AL031670, AL532307, BC065019, BC107724, BX118574
      Consensus CDS
      CCDS13072.1
      UniProtKB/Swiss-Prot
      Q9BZ23
      UniProtKB/TrEMBL
      Q6P1K9
      Related
      ENSP00000481523.1, ENST00000621507.1
      Conserved Domains (1) summary
      pfam03630
      Location:1 → 271
      Fumble

    RNA

    1. NR_136715.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL031670, AL353194, BC009421, BX118574

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      3888781..3929887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      3919717..3960811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153637.1: Suppressed sequence

      Description
      NM_153637.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    2. NM_153639.1: Suppressed sequence

      Description
      NM_153639.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    3. NM_153641.1: Suppressed sequence

      Description
      NM_153641.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZ23.3 GenPept UniProtKB/Swiss-Prot:Q9BZ23

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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