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ATP6AP2 Gene

protein-coding   GIFtS: 66
GCID: GC0XP040440

ATPase, H+ Transporting, Lysosomal Accessory Protein 2

(Previous names: ATPase, H+ transporting, lysosomal interacting protein 2)
(Previous symbol: ATP6IP2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, H+ Transporting, Lysosomal Accessory Protein 21 2     MRXSH2 5
ATP6IP21 2 3     XMRE2 5
ATP6M8-92 3 5     XPDS2 5
ATPase, H+ Transporting, Lysosomal Interacting Protein 21 2     APT6M8-92
Embryonic Liver Differentiation Factor 102 3     M8-92
Renin/Prorenin Receptor2 3     MRXE2
Vacuolar ATP Synthase Membrane Sector-Associated Protein M8-92 3     MSTP0092
ELDF102 3     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Membrane Sector
Associated Protein M8-92
N14F2 3     Renin Receptor2
ATPase H(+)-Transporting Lysosomal-Interacting Protein 22 3     Vacuolar Proton ATP Synthase Membrane Sector Associated Protein M8-92
ER-Localized Type I Transmembrane Adaptor2 3     CAPER3
V-ATPase M8.9 Subunit2 3     ATPase H(+)-Transporting Lysosomal Accessory Protein 23

External Ids:    HGNC: 183051   Entrez Gene: 101592   Ensembl: ENSG000001822207   OMIM: 3005565   UniProtKB: O757873   

Export aliases for ATP6AP2 gene to outside databases

Previous GC identifers: GC0XP039284 GC0XP039471 GC0XP040196 GC0XP040325 GC0XP038171


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP6AP2 Gene:
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)

GeneCards Summary for ATP6AP2 Gene:
ATP6AP2 (ATPase, H+ transporting, lysosomal accessory protein 2) is a protein-coding gene. Diseases associated with ATP6AP2 include parkinsonism with spasticity, x-linked, and mental retardation, x-linked, syndromic, hedera type. GO annotations related to this gene include receptor activity and enzyme binding.

UniProtKB/Swiss-Prot: RENR_HUMAN, O75787
Function: Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by
activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to
angiotensin I, it may also play a role in the renin-angiotensin system (RAS)

Gene Wiki entry for ATP6AP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6AP2 gene promoter:
         STAT1   STAT1beta   NF-E2 p45   Gfi-1   STAT1alpha   YY1   NF-AT4   SRY   HFH-1   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6AP2 promoter sequence
   Search Chromatin IP Primers for ATP6AP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6AP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.4   Ensembl cytogenetic band:  Xp11.4   HGNC cytogenetic band: Xp11.4

ATP6AP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6AP2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP040440:  view genomic region     (about GC identifiers)

Start:
40,440,146 bp from pter      End:
40,465,889 bp from pter
Size:
25,744 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RENR_HUMAN, O75787 (See protein sequence)
Recommended Name: Renin receptor precursor  
Size: 350 amino acids; 39008 Da
Subunit: Interacts with renin and the vacuolar proton-ATPase
Sequence caution: Sequence=AAH10395.1; Type=Erroneous initiation; Sequence=AAQ13511.1; Type=Frameshift;
Positions=155; Sequence=CAA76984.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for ATP6AP2:
3LBS (3D)        3LC8 (3D)    
Secondary accessions: Q5QTQ7 Q6T7F5 Q8NBP3 Q8NG15 Q96FV6 Q96LB5 Q9H2P8 Q9UG89

Explore the universe of human proteins at neXtProt for ATP6AP2: NX_O75787

Explore proteomics data for ATP6AP2 at MOPED

Post-translational modifications: 

  • Phosphorylated1
  • Ubiquitination2 at Lys139, Lys224, Lys238
  • Modification sites at PhosphoSitePlus

  • See ATP6AP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005756.2  
    ENSEMBL proteins: 
     ENSP00000367697   ENSP00000403969   ENSP00000411317   ENSP00000410105   ENSP00000438415  
     ENSP00000441536   ENSP00000440459  
    Reactome Protein details: O75787

    ATP6AP2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012493 Renin_rcpt

    Graphical View of Domain Structure for InterPro Entry O75787

    ProtoNet protein and cluster: O75787

    1 Blocks protein domain: IPB012493 Renin receptor-like


    ATP6AP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RENR_HUMAN, O75787
    Function: Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by
    activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to
    angiotensin I, it may also play a role in the renin-angiotensin system (RAS)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004190aspartic-type endopeptidase activity EXP--
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI12045255
    GO:0019899enzyme binding IEA--
         
    ATP6AP2 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ATP6AP2:
     Decreased Salmonella enterica   Decreased Salmonella-containin  Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/ 
     Decreased influenza A/WSN/33 r 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp6ap2):
     cardiovascular system  mortality/aging  muscle 

    ATP6AP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP6AP2
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    miRNA
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    miRTarBase miRNAs that target ATP6AP2:
    hsa-mir-1226-3p (MIRT036463), hsa-mir-148b-3p (MIRT019402), hsa-mir-26b-5p (MIRT029627)

    Block miRNA regulation of human, mouse, rat ATP6AP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP6AP2 (see all 11):
    hsa-miR-668 hsa-miR-448 hsa-miR-148b hsa-miR-133b hsa-miR-3617 hsa-miR-548l hsa-miR-152 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidATP6AP2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RENR_HUMAN, O75787: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum2
    cytosol1
    extracellular1
    nucleus1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IDA12045255
    GO:0016021integral component of membrane IEA--
    GO:0043005neuron projection IEA--
    GO:0044297cell body IEA--

    ATP6AP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP6AP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.37
    ACE Inhibitor Pathway0.00
    ACE Inhibitor Pathway, Pharmacodynamics0.00
    2Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Metabolism of Angiotensinogen to Angiotensins0.00
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.51
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    5Wnt signaling network
    Wnt signaling network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ATP6AP2
        ACE Inhibitor Pathway
    Oxidative phosphorylation
    Wnt signaling network


    1 Reactome Pathway for ATP6AP2
        Metabolism of Angiotensinogen to Angiotensins

    2 PharmGKB Pathways for ATP6AP2
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics


    ATP6AP2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6AP2: 
              Hypertension in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP6AP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP6AP2 (O757873 ENSP000003676974) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RENP007973, ENSP000002721904I2D: score=2 STRING: ENSP00000272190
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    ACEENSP000002908664STRING: ENSP00000290866
    ACE2ENSP000002525194STRING: ENSP00000252519
    CMA1ENSP000002503784STRING: ENSP00000250378
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002003angiotensin maturation TAS--
    GO:0006508proteolysis EXP--
    GO:0008152metabolic process ----
    GO:0032914positive regulation of transforming growth factor beta1 production IDA16374430
    GO:0043408regulation of MAPK cascade IDA12045255

    ATP6AP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP6AP2 (RENR)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP6AP2 gene: 
    NM_005765.2  

    Unigene Cluster for ATP6AP2:

    ATPase, H+ transporting, lysosomal accessory protein 2
    Hs.495960  [show with all ESTs]
    Unigene Representative Sequence: AK075382
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378438(uc004deu.1 uc004det.3 uc010nhc.3 uc011mkl.2 uc011mkm.2 uc011mkn.2)
    ENST00000436783 ENST00000486558 ENST00000447485 ENST00000423649 ENST00000487051
    ENST00000479120 ENST00000535539 ENST00000535777 ENST00000544975
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP6AP2 (see all 11):
    hsa-miR-668 hsa-miR-448 hsa-miR-148b hsa-miR-133b hsa-miR-3617 hsa-miR-548l hsa-miR-152 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidATP6AP2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat ATP6AP2
      QuantiFast Probe-based Assays in human, mouse, rat ATP6AP2

    Additional mRNA sequence: 

    AF109363.1 AF248966.1 AF291814.1 AK075382.1 AK293510.1 AK296614.1 AK297007.1 AK297760.1 
    AK314633.1 AK315948.1 AL049929.1 AY038990.1 AY429341.1 BC010395.1 BC084541.1 Y17975.1 

    19 DOTS entries:

    DT.448441  DT.101972338  DT.97825980  DT.100825404  DT.97769055  DT.91767534  DT.91767576  DT.95376036 
    DT.95376047  DT.95376038  DT.100037428  DT.121319307  DT.95376034  DT.121319288  DT.121319310  DT.91767535 
    DT.95156003  DT.95376035  DT.100825407 

    Selected AceView cDNA sequences (see all 456):

    CB157315 BM992852 BQ020567 AA788773 AI963141 AA410980 BP341537 CD678490 
    BI491248 AI081927 BQ773011 AI419581 CB850838 BM464555 BG501143 AA788679 
    BQ956599 BP368053 CK904572 BU675541 F10105 BI869290 AA599849 AI348399 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6AP2    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:                                            -                                                               
    SP2:                                            -     -     -     -     -                                       
    SP3:                                -     -     -     -                                                         
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for ATP6AP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP6AP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATAAAAC
    ATP6AP2 Expression
    About this image


    ATP6AP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
    ATP6AP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6AP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495960

    UniProtKB/Swiss-Prot: RENR_HUMAN, O75787
    Tissue specificity: Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and
    skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney
    artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN.
    Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6AP2: 
              Hypertension in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6AP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATP6AP2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6ap21 , 5 ATPase, H+ transporting, lysosomal accessory protein 2 less1, 5 89.78(n)1
    94.27(a)1
      X (7.42 cM)5
    704951  NM_027439.41  NP_081715.11 
     125878015 
    chicken
    (Gallus gallus)
    Aves ATP6AP21 ATPase, H+ transporting, lysosomal accessory protein 2 less 72.66(n)
    75.71(a)
      418573  NM_001030801.1  NP_001025972.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6AP26
    ATPase, H+ transporting, lysosomal accessory prote...
    77(a)
    1 ↔ 1
    3(133808036-133822437)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp6ap2-prov2 ATPase, H+ transporting, lysosomal accessory protein 2 less 74.99(n)    BC056060.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj36c032 Danio rerio cDNA clone MGC73194 IMAGE4788954, complete cds less 71.93(n)    BC059542.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta VhaM8.91 VhaM8.9 41.9(n)
    28.89(a)
      41104  NM_141619.2  NP_649876.1 


    ENSEMBL Gene Tree for ATP6AP2 (if available)
    TreeFam Gene Tree for ATP6AP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6AP2 gene

    ATP6AP2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATP6AP2
    PGOHUM00000245144


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP6AP2 (see all 432)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437770801,2
    --40355111(+) TTTTCA/GAGTCA 1 -- us2k10--------
    rs1901034201,2
    --40355126(+) CATTAG/TAGTGG 1 -- us2k10--------
    rs1472127131,2
    --40355184(+) TGCCTA/GATGGA 1 -- us2k10--------
    rs1387416671,2
    --40355286(+) CTTGAC/TGTTAG 1 -- us2k10--------
    rs29715991,2
    C,F,A,H--40355401(+) TCTTTC/ATTTTC 1 -- us2k110Minor allele frequency- A:0.09NS EA WA NA CSA 309
    rs1446644151,2
    --40355477(+) ATCTTC/TCCACC 1 -- us2k10--------
    rs1929725071,2
    --40355611(+) CCTGGA/GGTCAC 1 -- us2k10--------
    rs1846230231,2
    --40355715(+) CCCCCC/GCGCCA 1 -- us2k10--------
    rs736230961,2
    C,F--40355716(+) CCCCCG/CGCCAA 1 -- us2k11Minor allele frequency- C:0.00WA 2
    rs1808090231,2
    --40355768(+) CCTTCA/GATGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6AP2 (40440146 - 40465889 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ATP6AP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1934490CNV Deletion18987734
    esv2740107CNV Deletion23290073
    esv2675894CNV Deletion23128226
    esv2584867CNV Deletion19546169
    esv33829CNV Loss17666407
    nsv518965CNV Gain19592680
    nsv470350CNV Gain18288195

    Human Gene Mutation Database (HGMD): ATP6AP2
    Locus Specific Mutation Databases (LSDB): ATP6AP2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6AP2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6AP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300556   
    OMIM disorders: 300423  300911  
    UniProtKB/Swiss-Prot: RENR_HUMAN, O75787
  • Mental retardation, X-linked, with epilepsy (MRXE) [MIM:300423]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptive behavior and
    manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated
    with epilepsy, delays in motor milestones and speech acquisition in infancy. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 19 diseases for ATP6AP2:    
    About MalaCards
    parkinsonism with spasticity, x-linked    mental retardation, x-linked, syndromic, hedera type    mental retardation epilepsy    aortic valve stenosis
    epilepsy syndrome    mental retardation, x-linked    proliferative diabetic retinopathy    diabetic nephropathy
    mental retardation    diabetic retinopathy    aortic aneurysm    kidney disease
    hypertension    atherosclerosis    retinitis    multiple myeloma
    malaria    myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ATP6AP2:
    Hypertension

    ATP6AP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP6AP2
    Human Genome Epidemiology (HuGE) Navigator: ATP6AP2 (1 document)

    Export disorders for ATP6AP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP6AP2 gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with ATP6AP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules. (PubMed id 9556572)1, 2, 3 Ludwig J....Schaegger H. (J. Biol. Chem. 1998)
    2. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. (PubMed id 15746149)1, 2, 9 Ramser J....Nguyen G. (Hum. Mol. Genet. 2005)
    3. Identification, genomic structure, and screening of the vacuolar proton-ATPase membrane sector-associated protein M8-9 gene within the COD1 critical region (Xp11.4). (PubMed id 11590366)1, 3, 9 Demirci F.Y.... Gorin M.B. (Mol. Vis. 2001)
    4. Association of (pro)renin receptor gene polymorphism with blood pressure in Japanese men: the Ohasama study. (PubMed id 19131936)1, 4 Hirose T....Imai Y. (Am. J. Hypertens. 2009)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin. (PubMed id 12045255)1, 2 Nguyen G.... Sraer J.-D. (J. Clin. Invest. 2002)
    8. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    9. Elevated blood pressure and heart rate in human renin receptor transgenic rats. (PubMed id 16401765)1, 9 BurcklAc C.A....Nguyen G. (Hypertension 2006)
    10. (Pro)renin receptor and V-ATPase: from Drosophila to humans. (PubMed id 24400720)1 Rousselle A....Bader M. (Clin. Sci. 2014)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10159 HGNC: 18305 AceView: ATP6AP2 Ensembl:ENSG00000182220 euGenes: HUgn10159
    ECgene: ATP6AP2 H-InvDB: ATP6AP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATP6AP2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP6AP2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP6AP2 gene:
    Search GeneIP for patents involving ATP6AP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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