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
- HGNC: 18305
- Entrez Gene: 10159
- Ensembl: ENSG00000182220
- OMIM: 300556
- UniProtKB: O75787
Previous HGNC Symbols for ATP6AP2 Gene
- ATP6IP2
Previous GeneCards Identifiers for ATP6AP2 Gene
- GC0XP039284
- GC0XP039471
- GC0XP040196
- GC0XP040325
- GC0XP040440
- GC0XP038171
Summaries 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 Peptide hormone metabolism and Innate Immune System. Gene Ontology (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).
Additional gene information for ATP6AP2 Gene
- Monarch Initiative
- Search for ATP6AP2 at DataMed
- Search for ATP6AP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6AP2 Gene
Genomics for ATP6AP2 Gene
GeneHancer (GH) Regulatory Elements for ATP6AP2 Gene
Promoters and enhancers for ATP6AP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ATP6AP2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ATP6AP2 Gene
Genomic Locations for ATP6AP2 Gene
- chrX:40,579,372-40,606,848
- (GRCh38/hg38)
- Size:
- 27,477 bases
- Orientation:
- Plus strand
- chrX:40,440,146-40,465,889
- (GRCh37/hg19)
Genomic View for ATP6AP2 Gene
Genes around ATP6AP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.4 by Ensembl
- Xp11.4 by Entrez Gene
- Xp11.4 by HGNC
ATP6AP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ATP6AP2 Gene
Post-translational modifications for ATP6AP2 Gene
- Phosphorylated.
- Ubiquitination at posLast=139139, Lys224, and Lys238
- Modification sites at PhosphoSitePlus
Other Protein References for ATP6AP2 Gene
- ENSEMBL proteins:
-
- ENSP00000403969
- ENSP00000410105
- ENSP00000411317
- ENSP00000489622
- ENSP00000489653
- ENSP00000489819
- ENSP00000489845
- ENSP00000489920
- ENSP00000490083
- ENSP00000490239
- ENSP00000490257
- ENSP00000490345
- ENSP00000490382
- ENSP00000490452
- ENSP00000490462
- ENSP00000490532
- ENSP00000490558
- ENSP00000490675
- ENSP00000490706
- ENSP00000490733
- ENSP00000490884
- ENSP00000490954
- ENSP00000367697
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for ATP6AP2 (Renin R)
-
Custom Antibody ServicesOriGene Antibodies for ATP6AP2
- Novus Biologicals Antibodies for ATP6AP2
-
Abcam antibodies for ATP6AP2
-
Cloud-Clone Corp. Antibodies for ATP6AP2
- Invitrogen Antibodies for ATP6AP2
- GeneTex ATP6AP2 antibody for ATP6AP2
- Sino Biological Antibodies for ATP6AP2
Protein Products
-
OriGene Purified Proteins for ATP6AP2
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP6AP2
- Origene Custom Protein Services for ATP6AP2
- ProSpec Recombinant Proteins for ATP6AP2
-
Cloud-Clone Corp. Proteins for ATP6AP2
- Search GeneTex for Proteins for ATP6AP2
-
Abcam proteins for ATP6AP2
Assay Products
-
Cloud-Clone Corp. Assay Kits for ATP6AP2
No data available for DME Specific Peptides for ATP6AP2 Gene
Domains & Families for ATP6AP2 Gene
Gene Families for ATP6AP2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
- Transporters
Protein Domains for ATP6AP2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP6AP2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59846, highly similar to Renin receptor (B7Z1I9_HUMAN)
- cDNA FLJ52527, highly similar to Renin receptor (B7Z413_HUMAN)
- cDNA FLJ59925, highly similar to Renin receptor (B7Z487_HUMAN)
- cDNA, FLJ78847, highly similar to Renin receptor (B7Z9I3_HUMAN)
- Vacuolar ATP synthase membrane sector-associated protein M8-9 (RENR_HUMAN)
Graphical View of Domain Structure for InterPro Entry
No data available for 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).
| 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 | -- |
Phenotypes for ATP6AP2 Gene
- MGI mutant phenotypes for ATP6AP2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ATP6AP2:
-
- Decreased ionizing radiation sensitivity
- Dynamic nuclei (hole, folded or small irregular)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased Salmonella enterica Typhimurium invasion
- Decreased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Increased Sindbis virus (SINV) infection
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased Salmonella-containing vacuole maturation
- Decreased lymphocytic choriomeningitis virus (LCMV) infection
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
Animal Model Products
-
Taconic Biosciences Mouse Models for ATP6AP2
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATP6AP2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ATP6AP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP6AP2 gene
- Search ViGene Biosciences for ATP6AP2
CRISPR Products
-
OriGene CRISPR knockouts for ATP6AP2
- genomics-online: gRNA clones - Search results for available ATP6AP2 gene related products
- Applied Biological Materials CRISPR for ATP6AP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6AP2
- GenScript: Design CRISPR guide RNA sequences for ATP6AP2
miRNA for ATP6AP2 Gene
- miRTarBase miRNAs that target ATP6AP2
miRNA Products
- Search ViGene Biosciences for ATP6AP2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ATP6AP2
- Browse OriGene Inhibitory RNA Products For ATP6AP2
- genomics-online: shRNA clones - Search results for available ATP6AP2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP6AP2 gene
Clone Products
- Sino Biological Human cDNA Clone for ATP6AP2
- VectorBuilder custom plasmid, inducible vectors for ATP6AP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP6AP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ATP6AP2 gene related products
- orf clones - Search results for available ATP6AP2 gene related products
- Applied Biological Materials Clones for ATP6AP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for ATP6AP2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ATP6AP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP6AP2 gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| lysosome | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP6AP2 Gene
Pathways & Interactions for ATP6AP2 Gene
Pathways by source for ATP6AP2 Gene
3 BioSystems pathways for ATP6AP2 Gene
6 Reactome pathways for ATP6AP2 Gene
2 PharmGKB pathways for ATP6AP2 Gene
1 KEGG pathway for ATP6AP2 Gene
Interacting Proteins 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 |
Transcripts for ATP6AP2 Gene
mRNA/cDNA for ATP6AP2 Gene
- (1) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (456) Selected AceView cDNA sequences:
- (33) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ATP6AP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ATP6AP2
- genomics-online: gRNA clones - Search results for available ATP6AP2 gene related products
- Applied Biological Materials CRISPR for ATP6AP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6AP2
- GenScript: Design CRISPR guide RNA sequences for ATP6AP2
miRNA Products
- Search ViGene Biosciences for ATP6AP2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ATP6AP2
- Browse OriGene Inhibitory RNA Products For ATP6AP2
- genomics-online: shRNA clones - Search results for available ATP6AP2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP6AP2 gene
Clone Products
- Sino Biological Human cDNA Clone for ATP6AP2
- VectorBuilder custom plasmid, inducible vectors for ATP6AP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP6AP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ATP6AP2 gene related products
- orf clones - Search results for available ATP6AP2 gene related products
- Applied Biological Materials Clones for ATP6AP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||
| SP5: |
Expression for ATP6AP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Thymus (Hematopoietic System)
- T Helper Cells Thymus
- T-Cytotoxic Cells Thymus
-
Blood (Cardiovascular System)
- T Helper Cells Thymus
- T-Cytotoxic Cells Thymus
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
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
NURSA nuclear receptor signaling pathways regulating expression of ATP6AP2 Gene:
ATP6AP2SOURCE GeneReport for Unigene cluster for ATP6AP2 Gene:
Hs.495960mRNA 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(2.9)
- Heart(2.6)
- Muscle(2.5)
- Skin(2.5)
- Eye(2.1)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6AP2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- head
Primer Products
-
OriGene qPCR primer pairs for ATP6AP2
-
OriGene qPCR primer pairs and template standards for ATP6AP2
- genomics-online: primer clones - Search results for available ATP6AP2 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATP6AP2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ATP6AP2 33 34 |
|
||
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | ATP6AP2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Atp6ap2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Atp6ap2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATP6AP2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ATP6AP2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATP6AP2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ATP6AP2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atp6ap2 33 |
|
||
| Str.1814 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | atp6ap2-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp6ap2 33 34 |
|
||
| wufj36c03 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10522 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | VhaM8.9 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003430 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for ATP6AP2 Gene
Pseudogenes.org Pseudogenes for ATP6AP2 Gene
No data available for Paralogs for ATP6AP2 Gene
Variants for ATP6AP2 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519331 | pathogenic, Mental retardation, X-linked, syndromic, Hedera type | 40,589,122(+) | T/A | intron_variant | |
| rs121918521 | pathogenic, Mental retardation, X-linked, syndromic, Hedera type | 40,597,269(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs150392503 | benign, not specified, Mental retardation, X-linked, syndromic, Hedera type | 40,591,254(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs190477001 | benign, not specified, Mental retardation, X-linked, syndromic, Hedera type | 40,588,981(+) | T/C | intron_variant | |
| rs34217273 | conflicting-interpretations-of-pathogenicity, benign, not specified, Mental retardation, X-linked, syndromic, Hedera type | 40,591,350(+) | G/A/C | coding_sequence_variant, synonymous_variant |
| 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 |
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)
Additional Variant Information for ATP6AP2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6AP2 Gene
Disorders for ATP6AP2 Gene
(5) MalaCards diseases for ATP6AP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| parkinsonism with spasticity, x-linked |
|
|
| mental retardation, x-linked, syndromic, hedera type |
|
|
| paralytic lagophthalmos |
|
|
| lymphocytic choriomeningitis |
|
|
| spasticity |
|
|
Search ATP6AP2 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for ATP6AP2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ATP6AP2 Gene
Publications for ATP6AP2 Gene
- 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 (Human molecular genetics 2005) 3 4 22 58
- 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 FY … Gorin MB (Molecular vision 2001) 2 3 22 58
- Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules. (PMID: 9556572) Ludwig J … Schägger H (The Journal of biological chemistry 1998) 2 3 4 58
- Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (PMID: 23595882) Korvatska O … Raskind WH (Human molecular genetics 2013) 3 4 58
- Association of (pro)renin receptor gene polymorphism with blood pressure in Japanese men: the Ohasama study. (PMID: 19131936) Hirose T … Imai Y (American journal of hypertension 2009) 3 44 58
Products for ATP6AP2 Gene
- R&D Systems Antibodies for ATP6AP2 (Renin R)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
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- Browse Primary Antibodies
- Browse Proteins and Enzymes
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- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for ATP6AP2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ATP6AP2
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP6AP2
- Origene Custom Protein Services for ATP6AP2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6AP2
- Browse OriGene Inhibitory RNA Products For ATP6AP2
- OriGene qPCR primer pairs and template standards for ATP6AP2
- OriGene qPCR primer pairs for ATP6AP2
- OriGene CRISPR knockouts for ATP6AP2
- OriGene ORF clones in human for ATP6AP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATP6AP2
- GenScript: Next-day shipping of latest version cDNA ORF clones for ATP6AP2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ATP6AP2
- GenScript Custom Assay Services for ATP6AP2
- GenScript Custom overexpressing Cell Line Services for ATP6AP2
- GenScript: Design CRISPR guide RNA sequences for ATP6AP2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ATP6AP2
- Sino Biological Human cDNA Clone for ATP6AP2
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Sino Biological Antibodies for ATP6AP2
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for ATP6AP2
- Novus Biologicals lysates and proteins for ATP6AP2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ATP6AP2
- Abcam proteins for ATP6AP2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for ATP6AP2
- Cloud-Clone Corp. Antibodies for ATP6AP2
- Cloud-Clone Corp. Proteins for ATP6AP2
- Cloud-Clone Corp. Assay Kits for ATP6AP2
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for ATP6AP2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ATP6AP2
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATP6AP2
- VectorBuilder custom plasmid, inducible vectors for ATP6AP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP6AP2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 77 available ATP6AP2 Antibodies ranked by validation data
- Compare Top ATP6AP2 Antibodies
- antibodies-online: Search results for 17 available ATP6AP2 Elisa Kits ranked by validation data
- Compare Top ATP6AP2 Elisa Kits
- antibodies-online: Search results for 8 available ATP6AP2 Proteins ranked by validation data
- Compare Top ATP6AP2 Proteins
- GeneTex ATP6AP2 antibody for ATP6AP2
- Search GeneTex for Proteins for ATP6AP2
- ViGene Biosciences adenoviral particle packaged cDNA for ATP6AP2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ATP6AP2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ATP6AP2 gene
- Search ViGene Biosciences for ATP6AP2
- genomics-online: cdna clones - Search results for available ATP6AP2 gene related products
- orf clones - Search results for available ATP6AP2 gene related products
- genomics-online: gRNA clones - Search results for available ATP6AP2 gene related products
- genomics-online: primer clones - Search results for available ATP6AP2 gene related products
- genomics-online: shRNA clones - Search results for available ATP6AP2 gene related products
Sources for ATP6AP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems