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    ATP6AP2 ATPase H+ transporting accessory protein 2 [ Homo sapiens (human) ]

    Gene ID: 10159, updated on 7-Sep-2023

    Summary

    Official Symbol
    ATP6AP2provided by HGNC
    Official Full Name
    ATPase H+ transporting accessory protein 2provided by HGNC
    Primary source
    HGNC:HGNC:18305
    See related
    Ensembl:ENSG00000182220 MIM:300556; AllianceGenome:HGNC:18305
    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
    PRR; M8-9; MRXE; RENR; XMRE; XPDS; CDG2R; HT028; MRXSH; ELDF10; ATP6IP2; MSTP009; APT6M8-9; ATP6M8-9
    Summary
    This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 105.0), brain (RPKM 83.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP6AP2 in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (40580970..40606848)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (39982532..40008405)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (40440222..40466100)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373182 Neighboring gene inosine monophosphate dehydrogenase 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 9554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:40350139-40350639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:40377714-40378214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:40378215-40378715 Neighboring gene RNA, U7 small nuclear 164 pseudogene Neighboring gene Sharpr-MPRA regulatory region 11517 Neighboring gene Sharpr-MPRA regulatory region 4034 Neighboring gene chromosome X open reading frame 38 Neighboring gene mitochondrial pyruvate carrier 1 like

    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
    Congenital disorder of glycosylation, type IIr
    MedGen: C5393313 OMIM: 301045 GeneReviews: Not available
    Compare labs
    Syndromic X-linked intellectual disability Hedera type
    MedGen: C1845543 OMIM: 300423 GeneReviews: Not available
    Compare labs
    X-linked parkinsonism-spasticity syndrome
    MedGen: C3806722 OMIM: 300911 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-10-31)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-10-31)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC99577

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi lumen acidification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in angiotensin maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in central nervous system maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosomal lumen acidification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in eye pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in head morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular pH reduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in lysosomal lumen acidification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosomal lumen acidification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta1 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proton transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in rostrocaudal neural tube patterning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic vesicle lumen acidification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vacuolar acidification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in autophagosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendritic spine membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of proton-transporting V-type ATPase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     
    part_of vacuolar proton-transporting V-type ATPase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of vacuolar proton-transporting V-type ATPase, V0 domain ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    renin receptor
    Names
    ATPase H(+)-transporting lysosomal-interacting protein 2
    ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9
    ATPase, H+ transporting, lysosomal accessory protein 2
    ATPase, H+ transporting, lysosomal interacting protein 2
    ER-localized type I transmembrane adapter
    ER-localized type I transmembrane adaptor
    N14F
    V-ATPase M8.9 subunit
    embryonic liver differentiation factor 10
    prorenin receptor
    renin/prorenin receptor
    vacuolar ATP synthase membrane sector-associated protein M8-9
    vacuolar proton ATP synthase membrane sector associated protein M8-9

    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_008874.1 RefSeqGene

      Range
      5007..30885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005765.3NP_005756.2  renin receptor precursor

      See identical proteins and their annotated locations for NP_005756.2

      Status: REVIEWED

      Source sequence(s)
      AC092473
      Consensus CDS
      CCDS14252.1
      UniProtKB/Swiss-Prot
      B7Z9I3, O75787, Q5QTQ7, Q6T7F5, Q8NBP3, Q8NG15, Q96FV6, Q96LB5, Q9H2P8, Q9UG89
      UniProtKB/TrEMBL
      A0A1C7CYW4
      Related
      ENSP00000490083.1, ENST00000636580.2
      Conserved Domains (1) summary
      pfam07850
      Location:254350
      Renin_r; Renin receptor-like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      40580970..40606848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      39982532..40008405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)