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Aliases for ATP6AP2 Gene

Aliases for ATP6AP2 Gene

  • ATPase H+ Transporting 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
  • ATPase, H+ Transporting, Lysosomal Accessory Protein 2 2 3
  • 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
  • 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
  • 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 Mental Retardation, X-Linked, Syndromic, Hedera Type and Parkinsonism With Spasticity, X-Linked. Among its related pathways are Innate Immune System 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6AP2 Gene

Genomics for ATP6AP2 Gene

Regulatory Elements for ATP6AP2 Gene

Enhancers for ATP6AP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG040166 2.1 FANTOM5 Ensembl ENCODE dbSUPER 3.7 -406.9 -406897 11.8 PKNOX1 FOXA2 ARNT ARID4B FEZF1 DMAP1 ZNF2 YY1 ZNF766 FOS CXorf38 BCOR ATP6AP2 LOC105373181
GH0XG040543 1.2 Ensembl ENCODE 6.2 -35.0 -34958 1.6 FOXA2 TBL1XR1 YBX1 RAD21 TCF12 GATA2 ZNF143 FOS RELB ZNF654 ATP6AP2 RNU7-164P
GH0XG040272 1.6 FANTOM5 Ensembl ENCODE 3.1 -306.0 -305985 1.3 ATF1 PKNOX1 TCF12 ZNF766 ELK1 GATA2 FOS DEK NCOA1 REST BCOR ATP6AP2 LOC101927476 LOC105373182
GH0XG041009 1.7 FANTOM5 Ensembl ENCODE 2.9 +431.5 431467 3.5 HDGF PKNOX1 CREB3L1 ARID4B CBX5 ZNF207 ZNF143 TBX21 SMARCB1 KAT8 DDX3X CXorf38 CASK-AS1 USP9X ATP6AP2 MED14 PIR36105 RPS2P55
GH0XG040179 1.3 FANTOM5 Ensembl ENCODE dbSUPER 3.4 -399.9 -399939 0.9 ZNF316 ZNF384 TRIM24 ATF2 NR2F2 ATP6AP2 CXorf38 BCOR PIR38256
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6AP2 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6AP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000245947 1628 2001 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 FOS SP3 CEBPZ NFYC

Genomic Location for ATP6AP2 Gene

Chromosome:
X
Start:
40,579,372 bp from pter
End:
40,606,848 bp from pter
Size:
27,477 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

Post-translational modifications for ATP6AP2 Gene

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).

Gene Ontology (GO) - Molecular Function for ATP6AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
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

Human Phenotype Ontology for ATP6AP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6AP2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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:0002003 angiotensin maturation TAS --
GO:0008152 metabolic process IEA --
GO:0021903 rostrocaudal neural tube patterning IMP 20093472
GO:0030177 positive regulation of Wnt signaling pathway IMP 20093472
GO:0032914 positive regulation of transforming growth factor beta1 production IDA 16374430
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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ATP6AP2 Gene



Protein tissue co-expression partners for ATP6AP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP6AP2 Gene:

ATP6AP2

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.

Evidence on tissue expression from TISSUES for ATP6AP2 Gene

  • Nervous system(5)
  • Kidney(4.8)
  • Liver(4.4)
  • Lung(3)
  • Blood(2.8)
  • Heart(2.6)
  • Muscle(2.5)
  • Skin(2.5)
  • Eye(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6AP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
genes like me logo Genes that share expression patterns with ATP6AP2: view

Primer 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 34 35
  • 99.88 (n)
cow
(Bos Taurus)
Mammalia ATP6AP2 34 35
  • 91.14 (n)
-- 35
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATP6AP2 34 35
  • 90.29 (n)
mouse
(Mus musculus)
Mammalia Atp6ap2 34 16 35
  • 89.78 (n)
rat
(Rattus norvegicus)
Mammalia Atp6ap2 34
  • 89.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6AP2 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6AP2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6AP2 34 35
  • 72.66 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6AP2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6ap2 34
  • 69.78 (n)
Str.1814 34
African clawed frog
(Xenopus laevis)
Amphibia atp6ap2-prov 34
zebrafish
(Danio rerio)
Actinopterygii atp6ap2 34 35
  • 67.34 (n)
wufj36c03 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10522 34
fruit fly
(Drosophila melanogaster)
Insecta VhaM8.9 34 35
  • 41.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003430 34
  • 41.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
OneToOne
Species where no ortholog for ATP6AP2 was found in the sources mined by GeneCards:
  • 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
rs1057519331 Pathogenic 40,589,122(+) GTATG(A/T)ATATA intron-variant
rs121918521 Pathogenic 40,597,269(+) CTTGA(C/T)AGTGT reference, synonymous-codon
rs397518480 Pathogenic 40,597,293(+) CACTC(C/T)TTATT reference, synonymous-codon
rs142013283 Likely benign 40,597,620(+) ACTCT(A/G)TTCTC reference, missense
rs765852654 Likely benign 40,581,084(+) TCGTG(C/T)TCCTG reference, missense

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

Variant ID Type Subtype PubMed ID
esv1934490 CNV deletion 18987734
esv2584867 CNV deletion 19546169
esv2675894 CNV deletion 23128226
esv2740107 CNV deletion 23290073
esv33829 CNV loss 17666407
esv3558807 CNV deletion 23714750
esv3573892 CNV loss 25503493
nsv470350 CNV gain 18288195
nsv518965 CNV gain 19592680

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

Human Gene Mutation Database (HGMD)
ATP6AP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6AP2

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

Disorders for ATP6AP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic, hedera type
  • syndromic x-linked intellectual disability hedera type
parkinsonism with spasticity, x-linked
  • x-linked parkinsonism-spasticity syndrome
mental retardation epilepsy
spasticity mental retardation
lymphocytic choriomeningitis
  • lcm
- 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. 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 22 64
  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 22 64
  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 64
  4. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (PMID: 23595882) Korvatska O. … Raskind W.H. (Hum. Mol. Genet. 2013) 3 4 64
  5. Association of (pro)renin receptor gene polymorphism with blood pressure in Japanese men: the Ohasama study. (PMID: 19131936) Hirose T. … Imai Y. (Am. J. Hypertens. 2009) 3 46 64

Products for ATP6AP2 Gene

Sources for ATP6AP2 Gene

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