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

    Gene ID: 10159, updated on 10-Dec-2024

    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; (P)RR; 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
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    Genomic context

    See ATP6AP2 in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (40580970..40606848)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (39982532..40008405)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 29541 Neighboring gene Sharpr-MPRA regulatory region 9554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29543 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 ATAC-STARR-seq lymphoblastoid active region 29544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29545 Neighboring gene Sharpr-MPRA regulatory region 11517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20763 Neighboring gene Sharpr-MPRA regulatory region 4034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20764 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:40506849-40507029 Neighboring gene chromosome X open reading frame 38 Neighboring gene mitochondrial pyruvate carrier 1 like

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (342 hits/942 screens)

    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

    General gene information

    Clone Names

    • MGC99577

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables signaling receptor activity  
    Process Evidence Code Pubs
    involved_in Golgi lumen acidification PubMed 
    involved_in angiotensin maturation PubMed 
    involved_in central nervous system maturation PubMed 
    involved_in endosomal lumen acidification PubMed 
    involved_in eye pigmentation PubMed 
    involved_in head morphogenesis PubMed 
    involved_in intracellular pH reduction PubMed 
    involved_in lysosomal lumen acidification PubMed 
    involved_in lysosomal lumen acidification PubMed 
    involved_in positive regulation of Wnt signaling pathway  
    involved_in positive regulation of Wnt signaling pathway PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway PubMed 
    involved_in positive regulation of transforming growth factor beta1 production PubMed 
    involved_in proton transmembrane transport PubMed 
    involved_in regulation of MAPK cascade PubMed 
    involved_in rostrocaudal neural tube patterning PubMed 
    involved_in synaptic vesicle lumen acidification  
    involved_in vacuolar acidification PubMed 
    Items 1 - 20 of 24
    Component Evidence Code Pubs
    located_in Golgi membrane PubMed 
    located_in autophagosome membrane  
    located_in axon  
    located_in clathrin-coated vesicle membrane  
    located_in dendritic spine membrane  
    located_in endoplasmic reticulum membrane PubMed 
    located_in endosome membrane  
    located_in endosome membrane PubMed 
    is_active_in external side of plasma membrane  
    located_in external side of plasma membrane PubMed 
    located_in extracellular exosome PubMed 
    located_in ficolin-1-rich granule membrane  
    located_in lysosomal membrane  
    located_in lysosomal membrane PubMed 
    located_in lysosome PubMed 
    located_in membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in postsynaptic membrane  
    part_of proton-transporting V-type ATPase complex PubMed 
    located_in synaptic vesicle membrane  
    located_in tertiary granule membrane  
    part_of vacuolar proton-transporting V-type ATPase complex PubMed 
    part_of vacuolar proton-transporting V-type ATPase, V0 domain  
    Items 1 - 20 of 24

    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_005765.3 → NP_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:254 → 350
      Renin_r; Renin receptor-like protein

    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_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)
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