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Aliases for ATP6AP2 Gene

Aliases for ATP6AP2 Gene

  • ATPase H+ Transporting Accessory Protein 2 2 3
  • ATPase, H+ Transporting, Lysosomal Accessory Protein 2 2 3 5
  • 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
  • ATP6M8-9 3 4
  • ATP6IP2 3 4
  • ELDF10 3 4
  • 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
  • Renin Receptor 2
  • APT6M8-9 3
  • MSTP009 3
  • HT028 3
  • MRXSH 3
  • CAPER 4
  • M8-9 3
  • MRXE 3
  • RENR 3
  • XMRE 3
  • XPDS 3
  • PRR 3

External Ids for ATP6AP2 Gene

Previous HGNC Symbols for ATP6AP2 Gene

  • ATP6IP2

Previous GeneCards Identifiers for ATP6AP2 Gene

  • GC0XP039284
  • GC0XP039471
  • GC0XP040196
  • GC0XP040325
  • GC0XP040440
  • GC0XP038171

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 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. Among its related pathways are Transport to the Golgi and subsequent modification and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. GO annotations related to this gene include enzyme binding and aspartic-type endopeptidase 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

Regulatory Elements for ATP6AP2 Gene

Promoters for ATP6AP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6AP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6AP2 Gene

Chromosome:
X
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

Genes around ATP6AP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6AP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6AP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

  • Cloud-Clone Corp. Antibodies for ATP6AP2

No data available for DME Specific Peptides for ATP6AP2 Gene

Domains & Families 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).
genes like me logo Genes that share phenotypes with ATP6AP2: view

Human Phenotype Ontology for ATP6AP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
extracellular 5
plasma membrane 5
nucleus 3
cytosol 2
endoplasmic reticulum 2
vacuole 2
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP6AP2 Gene

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

Pathways & Interactions for ATP6AP2 Gene

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

SIGNOR curated interactions for ATP6AP2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ATP6AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021903 rostrocaudal neural tube patterning IMP 20093472
GO:0030177 positive regulation of Wnt signaling pathway IEA,IMP 20093472
GO:0032914 positive regulation of transforming growth factor beta1 production IDA 16374430
GO:0043408 regulation of MAPK cascade IDA 12045255
genes like me logo Genes that share ontologies with ATP6AP2: view

Drugs & Compounds for ATP6AP2 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for ATP6AP2 Gene

This gene is overexpressed in Nasal epithelium (38.7) and Urine (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP6AP2: view

Protein tissue co-expression partners for ATP6AP2 Gene

Primer Products

In Situ Assay Products

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 ATP6AP2 35
  • 91.14 (n)
  • 92 (a)
-- 36
  • 79 (a)
OneToMany
ATP6AP2 36
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATP6AP2 36
  • 93 (a)
OneToOne
ATP6AP2 35
  • 90.29 (n)
  • 92.57 (a)
mouse
(Mus musculus)
Mammalia Atp6ap2 16
Atp6ap2 36
  • 92 (a)
OneToOne
Atp6ap2 35
  • 89.78 (n)
  • 94.27 (a)
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 36
  • 77 (a)
OneToOne
ATP6AP2 35
  • 72.66 (n)
  • 75.71 (a)
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 36
  • 62 (a)
OneToOne
atp6ap2 35
  • 67.34 (n)
  • 69.45 (a)
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
rs9014 - 40,591,333(+) TACCC(C/G)CAGGC reference, missense
rs35798522 - 40,605,570(+) ACTTG(C/G)TGGGT reference, missense
rs2971599 -- 40,579,457(+) TCTTT(A/C)TTTTC upstream-variant-2KB
rs3111731 -- 40,595,321(+) GAGTA(A/T)CTTAG intron-variant
rs4521900 -- 40,602,754(+) GGGAA(C/T)GGACA intron-variant

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

Variation tolerance for ATP6AP2 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6AP2 Gene

HapMap Linkage Disequilibrium report
ATP6AP2
Human Gene Mutation Database (HGMD)
ATP6AP2

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

Disorders for ATP6AP2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ATP6AP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
parkinsonism with spasticity, x-linked
  • x-linked parkinsonism-spasticity syndrome
mental retardation, x-linked, syndromic, hedera type
  • mental retardation, x-linked, with epilepsy
x-linked intellectual disability, hedera type
  • mrxsh
mental retardation epilepsy
spasticity
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for ATP6AP2

Genetic Association Database (GAD)
ATP6AP2
Human Genome Epidemiology (HuGE) Navigator
ATP6AP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6AP2
genes like me logo Genes that share disorders with ATP6AP2: view

No data available for Genatlas for ATP6AP2 Gene

Publications for ATP6AP2 Gene

  1. 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 67
  2. 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
  3. Elevated blood pressure and heart rate in human renin receptor transgenic rats. (PMID: 16401765) BurcklAc C.A. … Nguyen G. (Hypertension 2006) 3 23
  4. 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 23
  5. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3

Products for ATP6AP2 Gene

Sources for ATP6AP2 Gene

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