Format

Send to:

Choose Destination
    • Showing Current items.

    ATP13A2 ATPase cation transporting 13A2 [ Homo sapiens (human) ]

    Gene ID: 23400, updated on 8-Jul-2021

    Summary

    Official Symbol
    ATP13A2provided by HGNC
    Official Full Name
    ATPase cation transporting 13A2provided by HGNC
    Primary source
    HGNC:HGNC:30213
    See related
    Ensembl:ENSG00000159363 MIM:610513
    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
    CLN12; KRPPD; PARK9; SPG78; HSA9947
    Summary
    This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in brain (RPKM 19.6), spleen (RPKM 11.2) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATP13A2 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (16985958..17011972, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17312453..17338423, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ciliary rootlet coiled-coil, rootletin Neighboring gene uncharacterized LOC105376806 Neighboring gene microfibril associated protein 2 Neighboring gene succinate dehydrogenase complex iron sulfur subunit B Neighboring gene peptidyl arginine deiminase 2

    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?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    GeneReviews: Not available
    Kufor-Rakeb syndrome Compare labs
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    GeneReviews: Not available
    Spastic paraplegia 78, autosomal recessive
    MedGen: C4310662 OMIM: 617225 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ26510

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type polyamine transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables ATPase-coupled cation transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables cupric ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables manganese ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables phosphatidic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-3,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in autophagosome-lysosome fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular cation homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to manganese ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to manganese ion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to oxidative stress TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to zinc ion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular zinc ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extracellular exosome biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in lipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lysosomal protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of neuron death ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of neuron death TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peptidyl-aspartic acid autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in polyamine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of exosomal secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of exosomal secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein localization to lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of autophagosome size IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of autophagy of mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of chaperone-mediated autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of glucosylceramidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of lysosomal protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of lysosomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of macroautophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of mitochondrion organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ubiquitin-specific protease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spermine transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in zinc ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    polyamine-transporting ATPase 13A2
    Names
    ATPase 13A2
    ATPase type 13A2
    cation-transporting ATPase 13A2
    probable cation-transporting ATPase 13A2
    NP_001135445.1
    NP_001135446.1
    NP_071372.1
    XP_005245867.1
    XP_005245868.1
    XP_005245869.1
    XP_005245872.1
    XP_006710575.1
    XP_006710576.1
    XP_011539430.1
    XP_011539431.1
    XP_016856333.1
    XP_016856334.1
    XP_016856335.1
    XP_016856336.1
    XP_016856337.1
    XP_016856338.1
    XP_016856339.1

    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.

    Genomic

    1. NG_009054.1 RefSeqGene

      Range
      5001..30971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_834

    mRNA and Protein(s)

    1. NM_001141973.3NP_001135445.1  polyamine-transporting ATPase 13A2 isoform 2

      See identical proteins and their annotated locations for NP_001135445.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 2.
      Source sequence(s)
      AK290210, AL354615, BC030267, BC034575
      Consensus CDS
      CCDS44073.1
      UniProtKB/Swiss-Prot
      Q9NQ11
      UniProtKB/TrEMBL
      Q8N4D4
      Related
      ENSP00000413307.1, ENST00000452699.5
      Conserved Domains (5) summary
      COG4087
      Location:845894
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391112
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:258493
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:623659
      Cation_ATPase; Cation transport ATPase (P-type)
    2. NM_001141974.3NP_001135446.1  polyamine-transporting ATPase 13A2 isoform 3

      See identical proteins and their annotated locations for NP_001135446.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and lacks two alternate exons in the 3' coding region which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1. The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 3.
      Source sequence(s)
      AK075310, BC030267, BC034575, HY024349
      Consensus CDS
      CCDS44072.1
      UniProtKB/Swiss-Prot
      Q9NQ11
      UniProtKB/TrEMBL
      Q8N4D4, Q8NBS1
      Related
      ENSP00000341115.5, ENST00000341676.9
      Conserved Domains (5) summary
      COG4087
      Location:806855
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391034
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:258493
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:623659
      Cation_ATPase; Cation transport ATPase (P-type)
    3. NM_022089.4NP_071372.1  polyamine-transporting ATPase 13A2 isoform 1

      See identical proteins and their annotated locations for NP_071372.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 1.
      Source sequence(s)
      AL354615, BC030267, HY024349
      Consensus CDS
      CCDS175.1
      UniProtKB/Swiss-Prot
      Q9NQ11
      Related
      ENSP00000327214.8, ENST00000326735.13
      Conserved Domains (5) summary
      COG4087
      Location:850899
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391117
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:263498
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39174
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:628664
      Cation_ATPase; Cation transport ATPase (P-type)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      16985958..17011972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710512.1XP_006710575.1  polyamine-transporting ATPase 13A2 isoform X4

      Conserved Domains (5) summary
      COG4087
      Location:844893
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391072
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:257492
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39168
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:622658
      Cation_ATPase; Cation transport ATPase (P-type)
    2. XM_017000845.1XP_016856334.1  polyamine-transporting ATPase 13A2 isoform X8

    3. XM_006710513.1XP_006710576.1  polyamine-transporting ATPase 13A2 isoform X6

      Conserved Domains (5) summary
      COG4087
      Location:836885
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391064
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:249484
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:614650
      Cation_ATPase; Cation transport ATPase (P-type)
    4. XM_017000846.1XP_016856335.1  polyamine-transporting ATPase 13A2 isoform X9

    5. XM_017000849.1XP_016856338.1  polyamine-transporting ATPase 13A2 isoform X13

    6. XM_005245811.1XP_005245868.1  polyamine-transporting ATPase 13A2 isoform X2

      Conserved Domains (5) summary
      COG4087
      Location:845894
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391073
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:258493
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:623659
      Cation_ATPase; Cation transport ATPase (P-type)
    7. XM_017000847.1XP_016856336.1  polyamine-transporting ATPase 13A2 isoform X10

    8. XM_005245810.1XP_005245867.1  polyamine-transporting ATPase 13A2 isoform X1

      Conserved Domains (5) summary
      COG4087
      Location:849898
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391077
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:262497
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39114
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:627663
      Cation_ATPase; Cation transport ATPase (P-type)
    9. XM_005245812.1XP_005245869.1  polyamine-transporting ATPase 13A2 isoform X5

      Conserved Domains (5) summary
      COG4087
      Location:841890
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391069
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:254489
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39174
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:619655
      Cation_ATPase; Cation transport ATPase (P-type)
    10. XM_011541128.1XP_011539430.1  polyamine-transporting ATPase 13A2 isoform X3

      Conserved Domains (5) summary
      COG4087
      Location:845894
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391073
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:263498
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39174
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:623659
      Cation_ATPase; Cation transport ATPase (P-type)
    11. XM_017000844.1XP_016856333.1  polyamine-transporting ATPase 13A2 isoform X7

    12. XM_011541129.1XP_011539431.1  polyamine-transporting ATPase 13A2 isoform X14

      Conserved Domains (5) summary
      COG4087
      Location:781830
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391009
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:263498
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39174
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:559595
      Cation_ATPase; Cation transport ATPase (P-type)
    13. XM_017000850.1XP_016856339.1  polyamine-transporting ATPase 13A2 isoform X15

    14. XM_005245815.1XP_005245872.1  polyamine-transporting ATPase 13A2 isoform X11

      Conserved Domains (5) summary
      COG4087
      Location:811860
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:391039
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:263498
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39174
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:628664
      Cation_ATPase; Cation transport ATPase (P-type)
    15. XM_017000848.1XP_016856337.1  polyamine-transporting ATPase 13A2 isoform X12

    Support Center