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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP6AP2 Gene

protein-coding   GIFtS: 61
GCID: GC0XP040440

ATPase, H+ transporting, lysosomal accessory protein 2

(Previous names: ATPase, H+ transporting, lysosomal interacting protein...)
(Previous symbol: ATP6IP2)
 Explore 14 diseases affiliated with
ATP6AP2 via our new
 Human Malady Compendium 
Biological research products
for ATP6AP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ATPase, H+ Transporting, Lysosomal Accessory Protein 21 2     ATPase H(+)-Transporting Lysosomal-Interacting Protein 22 3
ATP6M8-91 2 3 5     ER-Localized Type I Transmembrane Adaptor2 3
ATP6IP21 2 3     V-ATPase M8.9 Subunit2 3
APT6M8-91 2     MRXE2 5
M8-91 2     XMRE2 5
ATPase, H+ Transporting, Lysosomal Interacting Protein 21 2     MSTP0092
Embryonic Liver Differentiation Factor 102 3     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Membrane Sector
Associated Protein M8-92
Renin/Prorenin Receptor2 3     Renin Receptor2
Vacuolar ATP Synthase Membrane Sector-Associated Protein M8-92 3     Vacuolar Proton ATP Synthase Membrane Sector Associated Protein M8-92
ELDF102 3     CAPER3
N14F2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP6AP2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP6AP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
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

Post-translational modifications:

  • Phosphorylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75787

  • ATP6AP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005756.2  
    ENSEMBL proteins: 
     ENSP00000367697   ENSP00000403969   ENSP00000411317   ENSP00000410105   ENSP00000438415  
     ENSP00000441536   ENSP00000440459  
    Reactome Protein details: O75787
    Human Recombinant Protein Products: 
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    Novus Biologicals ATP6AP2 Lysate
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    Uscn Proteins for ATP6AP2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009897external side of plasma membrane IDA15746149
    GO:0016021integral to membrane IEA--
    GO:0043005neuron projection IEA--
    GO:0044297cell body IEA--


    ATP6AP2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATP6AP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012493 Renin_rcpt

    Graphical View of Domain Structure for InterPro Entry O75787

    ProtoNet protein and cluster: O75787

    1 Blocks protein family: IPB012493 Renin receptor-like


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

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    hsa-miR-668 hsa-miR-448 hsa-miR-148b hsa-miR-133b hsa-miR-3617 hsa-miR-548l hsa-miR-152 hsa-miR-133a
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI12045255
    GO:0019899enzyme binding IEA--


    ATP6AP2 for ontologies           About GeneDecksing


    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 

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

    ATP6AP2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    ACE Inhibitor Pathway, Pharmacodynamics1.00
    ACE Inhibitor Pathway0.85
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics1.00
    2Wnt signaling network
    Wnt signaling network1.00
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.52
    4Renin-angiotensin system
    Metabolism of Angiotensinogen to Angiotensins0.48
    5Insulin Processing
    Peptide hormone metabolism0.39

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    3        Reactome Pathways for ATP6AP2
        Metabolism of Angiotensinogen to Angiotensins
    Metabolism of proteins
    Peptide hormone metabolism

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


    ATP6AP2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6AP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for ATP6AP2 (O757873 ENSP000003676974) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002003angiotensin maturation IDA15746149
    GO:0032914positive regulation of transforming growth factor beta1 production IDA16374430
    GO:0043408regulation of MAPK cascade IDA15746149


    ATP6AP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6AP2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

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    Search CenterWatch for drugs/clinical trials and news about ATP6AP2 / RENR 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    hsa-miR-668 hsa-miR-448 hsa-miR-148b hsa-miR-133b hsa-miR-3617 hsa-miR-548l hsa-miR-152 hsa-miR-133a
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    Additional cDNA 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 

    24/456 AceView cDNA sequences (see all 456):

    CA776340 AI419386 BU685017 BQ016104 BF726753 CK904571 BU607997 BU675541 
    AA788679 AI567371 CA388902 AA605267 BU193939 Y17975 AI205633 CK904572 
    BE897106 AA470629 AA417822 AA952967 BM464555 AI963141 BM974154 AA599849 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP6AP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATATAAAAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ATP6AP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6AP2

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ATP6AP2 gene from 6/21 species (see all 21)    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
    --
    78(a)
    1 ↔ 1
    3(133814686-133822437)
    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 CG8444-PA 41.01(n)
    29.34(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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/375 NCBI SNPs in ATP6AP2 are shown (see all 375    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437770801,2
    --40438419(+) TTTTCA/GAGTCA 1 -- us2k10--------
    rs1901034201,2
    --40438434(+) CATTAG/TAGTGG 1 -- us2k10--------
    rs1472127131,2
    --40438492(+) TGCCTA/GATGGA 1 -- us2k10--------
    rs1387416671,2
    --40438594(+) CTTGAC/TGTTAG 1 -- us2k10--------
    rs29715991,2
    C,F,A,H,--40438709(+) TCTTTC/ATTTTC 1 -- us2k110Minor allele frequency- A:0.09NS EA WA NA CSA 309
    rs1446644151,2
    --40438785(+) ATCTTC/TCCACC 1 -- us2k10--------
    rs1929725071,2
    --40438919(+) CCTGGA/GGTCAC 1 -- us2k10--------
    rs1846230231,2
    --40439023(+) CCCCCC/GCGCCA 1 -- us2k10--------
    rs736230961,2
    C,--40439024(+) CCCCCG/CGCCAA 1 -- us2k11Minor allele frequency- C:0.00WA 2
    rs1808090231,2
    --40439076(+) CCTTCA/GATGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6AP2 (40440146 - 40465889 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ATP6AP2
         2 CNVs: 7785 103242
         1 Indel: 47810
    Human Gene Mutation Database (HGMD): ATP6AP2

    Locus Specific Mutation Databases (LSDB): ATP6AP2

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    ATP6AP2 for disorders           About GeneDecksing

    OMIM gene information: 300556   
    OMIM disorders: 300423  
    UniProtKB/Swiss-Prot: RENR_HUMAN, O75787
  • Defects in ATP6AP2 are a cause of mental retardation X-linked with epilepsy (MRXE) [MIM:300423]. MRXE is a
  • syndromic mental retardation. Patients manifest mild to moderate mental retardation associated with epilepsy, delays
    in motor milestones and speech acquisition in infancy

    14 diseases for ATP6AP2:    About MalaCards
    mental retardation, x-linked    x-linked mental retardation with epilepsy    mental retardation epilepsy    aortic valve stenosis
    aortic aneurysm    glomerulosclerosis    epilepsy syndrome    nephropathy
    kidney disease    aldosteronism    atherosclerosis    glioblastoma
    hypertension    retinitis

    1 disease from the University of Copenhagen DISEASES database for ATP6AP2:
    Hypertension
    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)
    About This Section

    PubMed articles for ATP6AP2 gene, integrated from 9 sources (see all 66):
    (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. (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. (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. (2001)
    4. 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. (2005)
    5. 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. (2004)
    6. 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. (2002)
    7. 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. (2000)
    8. Elevated blood pressure and heart rate in human renin receptor transgenic rats. (PubMed id 16401765)1, 9 Burckle C.A....Nguyen G. (2006)
    9. Soluble (pro)renin receptor and blood pressure during pregnancy: a prospective cohort study. (PubMed id 23045457)1 Watanabe N....Ichihara A. (2012)
    10. (Pro)renin receptor: another member of the system cont rolled by angiotensin II? (PubMed id 21997900)1 Pereira L.G....Boim M.A. (2012)

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

      Query String
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      (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)
    About This Section
    Entrez Gene: 10159 HGNC: 18305 AceView: ATP6AP2 Ensembl:ENSG00000182220 euGenes: HUgn10159
    ECgene: ATP6AP2 H-InvDB: ATP6AP2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP6AP2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6AP2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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