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Aliases for ATP6AP2 Gene

Aliases for ATP6AP2 Gene

  • ATPase, H+ Transporting, Lysosomal Accessory Protein 2 2 3
  • ATP6M8-9 3 4 6
  • Vacuolar ATP Synthase Membrane Sector-Associated Protein M8-9 3 4
  • ATPase, H+ Transporting, Lysosomal Interacting Protein 2 2 3
  • ATPase H(+)-Transporting Lysosomal-Interacting Protein 2 3 4
  • Embryonic Liver Differentiation Factor 10 3 4
  • ER-Localized Type I Transmembrane Adaptor 3 4
  • Renin/Prorenin Receptor 3 4
  • V-ATPase M8.9 Subunit 3 4
  • Prorenin Receptor 2 3
  • Renin Receptor 2 3
  • ATP6IP2 3 4
  • ELDF10 3 4
  • MRXSH 3 6
  • XMRE 3 6
  • XPDS 3 6
  • N14F 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Membrane Sector Associated Protein M8-9 3
  • Vacuolar Proton ATP Synthase Membrane Sector Associated Protein M8-9 3
  • ATPase H(+)-Transporting Lysosomal Accessory Protein 2 4
  • APT6M8-9 3
  • MSTP009 3
  • CAPER 4
  • HT028 3
  • M8-9 3
  • MRXE 3
  • RENR 3
  • PRR 3

External Ids for ATP6AP2 Gene

Previous Symbols for ATP6AP2 Gene

  • ATP6IP2

Summaries for ATP6AP2 Gene

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 mental retardation, x-linked, syndromic, hedera type and parkinsonism with spasticity, x-linked. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Wnt signaling network. GO annotations related to this gene include enzyme binding and receptor activity.

UniProtKB/Swiss-Prot for ATP6AP2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6AP2 Gene

Genomics for ATP6AP2 Gene

Genomic Location for ATP6AP2 Gene

Start:
40,580,908 bp from pter
End:
40,606,637 bp from pter
Size:
25,730 bases
Orientation:
Plus strand

Genomic View for ATP6AP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6AP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6AP2 Gene

Regulatory Elements for ATP6AP2 Gene

Proteins for ATP6AP2 Gene

  • Protein details for ATP6AP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75787-RENR_HUMAN
    Recommended name:
    Renin receptor
    Protein Accession:
    O75787
    Secondary Accessions:
    • B7Z9I3
    • Q5QTQ7
    • Q6T7F5
    • Q8NBP3
    • Q8NG15
    • Q96FV6
    • Q96LB5
    • Q9H2P8
    • Q9UG89

    Protein attributes for ATP6AP2 Gene

    Size:
    350 amino acids
    Molecular mass:
    39008 Da
    Quaternary structure:
    • Interacts with renin and the vacuolar proton-ATPase.
    SequenceCaution:
    • Sequence=AAH10395.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ13511.1; Type=Frameshift; Positions=155; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA76984.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATP6AP2 Gene

    Alternative splice isoforms for ATP6AP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6AP2 Gene

Proteomics data for ATP6AP2 Gene at MOPED

Post-translational modifications for ATP6AP2 Gene

Other Protein References for ATP6AP2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP6AP2 Gene

Domains for ATP6AP2 Gene

Protein Domains for ATP6AP2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATP6AP2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ATP6AP2 Gene

Function for ATP6AP2 Gene

Molecular function for ATP6AP2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for ATP6AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004190 aspartic-type endopeptidase activity EXP --
GO:0004872 receptor activity IEA --
GO:0005515 protein binding IPI 12045255
GO:0019899 enzyme binding IEA --
genes like me logo Genes that share ontologies with ATP6AP2: view
genes like me logo Genes that share phenotypes with ATP6AP2: view

miRNA for ATP6AP2 Gene

miRTarBase miRNAs that target ATP6AP2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ATP6AP2 Gene

Localization for ATP6AP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6AP2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6AP2 Gene COMPARTMENTS Subcellular localization image for ATP6AP2 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
cytosol 1
extracellular 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ATP6AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IDA 12045255
GO:0016021 integral component of membrane IEA --
GO:0043005 neuron projection IEA --
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with ATP6AP2: view

Pathways for ATP6AP2 Gene

genes like me logo Genes that share pathways with ATP6AP2: view

Gene Ontology (GO) - Biological Process for ATP6AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002003 angiotensin maturation TAS --
GO:0006508 proteolysis EXP --
GO:0008152 metabolic process --
GO:0008219 cell death --
GO:0021903 rostrocaudal neural tube patterning IMP 20093472
genes like me logo Genes that share ontologies with ATP6AP2: view

Transcripts for ATP6AP2 Gene

Unigene Clusters for ATP6AP2 Gene

ATPase, H+ transporting, lysosomal accessory protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6AP2 Gene

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

Relevant External Links for ATP6AP2 Gene

GeneLoc Exon Structure for
ATP6AP2
ECgene alternative splicing isoforms for
ATP6AP2

Expression for ATP6AP2 Gene

mRNA expression in normal human tissues for ATP6AP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6AP2 Gene

SOURCE GeneReport for Unigene cluster for ATP6AP2 Gene Hs.495960

mRNA Expression by UniProt/SwissProt for ATP6AP2 Gene

O75787-RENR_HUMAN
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.
genes like me logo Genes that share expressions with ATP6AP2: view

No data available for mRNA differential expression in normal tissues for ATP6AP2 Gene

Orthologs for ATP6AP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP6AP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6AP2 35
  • 99.88 (n)
  • 99.64 (a)
ATP6AP2 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 79 (a)
OneToMany
ATP6AP2 35
  • 91.14 (n)
  • 92 (a)
ATP6AP2 36
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATP6AP2 35
  • 90.29 (n)
  • 92.57 (a)
ATP6AP2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6ap2 35
  • 89.78 (n)
  • 94.27 (a)
Atp6ap2 16
Atp6ap2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6AP2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6AP2 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6ap2 35
  • 89.4 (n)
  • 92.84 (a)
chicken
(Gallus gallus)
Aves ATP6AP2 35
  • 72.66 (n)
  • 75.71 (a)
ATP6AP2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6AP2 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia atp6ap2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6ap2 35
  • 69.78 (n)
  • 72.59 (a)
Str.1814 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10522 35
zebrafish
(Danio rerio)
Actinopterygii atp6ap2 35
  • 67.34 (n)
  • 69.45 (a)
atp6ap2 36
  • 62 (a)
OneToOne
wufj36c03 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003430 35
  • 41.19 (n)
  • 31.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta VhaM8.9 35
  • 41.9 (n)
  • 28.89 (a)
VhaM8.9 36
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToOne
Species with no ortholog for ATP6AP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATP6AP2 Gene

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

Paralogs for ATP6AP2 Gene

Pseudogenes.org Pseudogenes for ATP6AP2 Gene

genes like me logo Genes that share paralogs with ATP6AP2: view

No data available for Paralogs for ATP6AP2 Gene

Variants for ATP6AP2 Gene

Sequence variations from dbSNP and Humsavar for ATP6AP2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs7691 other 40,600,788(+) CTTTA(C/T)GGTGG synonymous-codon, reference
rs9014 other, - 40,591,333(+) TACCC(C/G)CAGGC reference, missense
rs9062 -- 40,606,409(+) GTGGA(G/T)TATAT utr-variant-3-prime
rs10536 -- 40,606,516(+) TTACT(A/G)TGGTT utr-variant-3-prime
rs1060063 -- 40,606,564(+) GTGGG(C/T)GAATT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATP6AP2 Gene

Variant ID Type Subtype PubMed ID
esv33829 CNV Loss 17666407
nsv470350 CNV Gain 18288195
nsv518965 CNV Gain 19592680
esv2584867 CNV Deletion 19546169
esv1934490 CNV Deletion 18987734
esv2675894 CNV Deletion 23128226
esv2740107 CNV Deletion 23290073

Relevant External Links for ATP6AP2 Gene

HapMap Linkage Disequilibrium report
ATP6AP2
Human Gene Mutation Database (HGMD)
ATP6AP2
Locus Specific Mutation Databases (LSDB)
ATP6AP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6AP2 Gene

Disorders for ATP6AP2 Gene

(2) OMIM Diseases for ATP6AP2 Gene (300556)

UniProtKB/Swiss-Prot

RENR_HUMAN
  • 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. {ECO:0000269 PubMed:15746149}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Parkinsonism with spasticity, X-linked (XPDS) [MIM:300911]: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. {ECO:0000269 PubMed:23595882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ATP6AP2 Gene

Relevant External Links for ATP6AP2

Genetic Association Database (GAD)
ATP6AP2
Human Genome Epidemiology (HuGE) Navigator
ATP6AP2
genes like me logo Genes that share disorders with ATP6AP2: view

Publications for ATP6AP2 Gene

  1. Identification, genomic structure, and screening of the vacuolar proton-ATPase membrane sector-associated protein M8-9 gene within the COD1 critical region (Xp11.4). (PMID: 11590366) Demirci F.Y. … Gorin M.B. (Mol. Vis. 2001) 2 3 23
  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. (PMID: 15746149) Ramser J. … Nguyen G. (Hum. Mol. Genet. 2005) 3 4 23
  3. Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules. (PMID: 9556572) Ludwig J. … Schaegger H. (J. Biol. Chem. 1998) 2 3 4
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  5. Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin. (PMID: 12045255) Nguyen G. … Sraer J.-D. (J. Clin. Invest. 2002) 3 4

Products for ATP6AP2 Gene

Sources for ATP6AP2 Gene

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