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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-conduc... See more...
Aliases for ATP6AP2 Gene
Aliases for ATP6AP2 Gene
- ATPase H+ Transporting Accessory Protein 2 2 3 5
- Renin Receptor 2 3 4
- 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
- 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 Innate Immune System and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include enzyme binding and aspartic-type endopeptidase activity.
UniProtKB/Swiss-Prot Summary for ATP6AP2 Gene
-
Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the proton-transporting vacuolar (V)-ATPase protein pump (PubMed:12045255, PubMed:29127204). May mediate renin-dependent cellular responses by activating ERK1 and ERK2 (PubMed:12045255). 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) (PubMed:12045255). Probably by controlling the assembly of the V-ATPase pump and thus the acidification of the endo-lysosomal system, plays a role in many neuronal processes including synapse morphology and synaptic transmission (By similarity).
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 , Rfam classification 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 from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATP6AP2 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6AP2
- Top Transcription factor binding sites by QIAGEN in the ATP6AP2 gene promoter:
-
- Gfi-1
- HFH-1
- NF-AT4
- NF-E2
- NF-E2 p45
- SRY
- STAT1
- STAT1alpha
- STAT1beta
- YY1
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)
- Size:
- 25,744 bases
- Orientation:
- Plus strand
Genomic View for ATP6AP2 Gene
Genes around ATP6AP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.4 by HGNC
- Xp11.4 by Entrez Gene
- Xp11.4 by Ensembl
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 (PubMed:12045255). Interacts with multisubunit proton-transporting vacuolar (V)-ATPase protein pump accessory components VMA21 and (via N-terminus) ATP6AP1 (via N-terminus) (PubMed:29127204).
- SequenceCaution:
-
- Sequence=AAH10395.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAQ13511.1; Type=Frameshift; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA76984.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for ATP6AP2 Gene
Post-translational modifications for ATP6AP2 Gene
- Phosphorylated.
- Proteolytically cleaved by a furin-like convertase in the trans-Golgi network to generate N- and C-terminal fragments.
-
Ubiquitination at Lys139, Lys224, and Lys238
- NX_O75787 (NX_O75787-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ATP6AP2 Gene
- ENSEMBL proteins:
-
- ENSP00000411317
- ENSP00000490345
- ENSP00000489819
- ENSP00000490239
- ENSP00000490733
- ENSP00000490532
- ENSP00000489845
- ENSP00000490884
- ENSP00000490382
- ENSP00000490083
- ENSP00000489653
- ENSP00000490675
- ENSP00000489920
- ENSP00000489622
- ENSP00000490462
- ENSP00000403969
- ENSP00000410105
- ENSP00000490706
- ENSP00000367697
- ENSP00000490954
- ENSP00000490257
- ENSP00000490558
- ENSP00000490452
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CAPER Antibody and Immunotag™ Caper Antibody
- Creative Diagnostics Anti-ATP6AP2 polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for ATP6AP2
- Novus Biologicals Antibodies for ATP6AP2
- Invitrogen Antibodies for ATP6AP2 (AFLGC-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
-
Abcam proteins for ATP6AP2
Assay Products
- Creative Diagnostics soluble (Pro)renin Receptor ELISA Kit
- Aviva Systems Biology ATP6AP2 ELISA Kit (Human) (OKEH04445) and ATP6AP2 ELISA Kit (Human) (OKCD08927)
- antibodies-online: Show 26 available ATP6AP2 Elisa Kits ranked by validation data
- Compare Top ATP6AP2 Elisa Kits
-
Quality Products:
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
- Transporters
Protein Domains for ATP6AP2 Gene
- Blocks:
-
- Renin receptor-like
- InterPro:
- 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)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ATP6AP2 Gene
Function for ATP6AP2 Gene
Molecular function for ATP6AP2 Gene
- UniProtKB/Swiss-Prot Function:
- Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the proton-transporting vacuolar (V)-ATPase protein pump (PubMed:12045255, PubMed:29127204). May mediate renin-dependent cellular responses by activating ERK1 and ERK2 (PubMed:12045255). 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) (PubMed:12045255). Probably by controlling the assembly of the V-ATPase pump and thus the acidification of the endo-lysosomal system, plays a role in many neuronal processes including synapse morphology and synaptic transmission (By similarity).
Phenotypes From GWAS Catalog for ATP6AP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 12045255 |
| GO:0038023 | signaling receptor activity | IEA | -- |
Phenotypes for ATP6AP2 Gene
- MGI mutant phenotypes for ATP6AP2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ATP6AP2:
-
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased lymphocytic choriomeningitis virus (LCMV) infection
- Dynamic nuclei (hole, folded or small irregular)
- Decreased ionizing radiation sensitivity
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella-containing vacuole maturation
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A/WSN/33 replication
- Increased Sindbis virus (SINV) infection
- Decreased shRNA abundance
Animal Model Products
-
Taconic Biosciences Mouse Models for ATP6AP2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATP6AP2 - Select products 50% OFF >
- * ATP6AP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATP6AP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6AP2
- genomics-online: gRNA clones - Search results for available ATP6AP2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6AP2
miRNA for ATP6AP2 Gene
- miRTarBase miRNAs that target ATP6AP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6AP2
- Browse OriGene Inhibitory RNA Products For ATP6AP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6AP2
- genomics-online: shRNA clones - Search results for available ATP6AP2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for ATP6AP2 - Select products 50% OFF >
- * ATP6AP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ATP6AP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6AP2
- genomics-online: cdna clones - Search results for available ATP6AP2 gene related products
- orf clones - Search results for available ATP6AP2 gene related 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
- Endoplasmic reticulum membrane; Single-pass type I membrane protein. Lysosome membrane. Cytoplasmic vesicle, autophagosome membrane. Cell projection, dendritic spine membrane. Cell projection, axon.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| lysosome | 5 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| endosome | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000421 | autophagosome membrane | IEA | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005764 | lysosome | IDA,IEA | 29127204 |
| GO:0005765 | lysosomal membrane | IEA | -- |
| GO:0005783 | endoplasmic reticulum | 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
GPS-Prot Interaction Network for ATP6AP2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002003 | angiotensin maturation | TAS | -- |
| GO:0021903 | rostrocaudal neural tube patterning | IMP | 20093472 |
| GO:0030177 | positive regulation of Wnt signaling pathway | IMP,IBA | 20093472 |
| GO:0032914 | positive regulation of transforming growth factor beta1 production | IDA | 16374430 |
| GO:0043312 | neutrophil degranulation | TAS | -- |
Transcripts for ATP6AP2 Gene
mRNA/cDNA for ATP6AP2 Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000378438 2022 bps (ENST00000378438.9)
- ENST00000423649 1093 bps (ENST00000423649.2)
- ENST00000436783 554 bps (ENST00000436783.6)
- ENST00000447485 1254 bps (ENST00000447485.6)
- ENST00000479120 619 bps (ENST00000479120.2)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATP6AP2 - Select products 50% OFF >
- * ATP6AP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATP6AP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6AP2
- genomics-online: gRNA clones - Search results for available ATP6AP2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6AP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6AP2
- Browse OriGene Inhibitory RNA Products For ATP6AP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6AP2
- genomics-online: shRNA clones - Search results for available ATP6AP2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for ATP6AP2 - Select products 50% OFF >
- * ATP6AP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ATP6AP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6AP2
- genomics-online: cdna clones - Search results for available ATP6AP2 gene related products
- orf clones - Search results for available ATP6AP2 gene related products
| 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
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, MaxQB, and MOPED for ATP6AP2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6AP2
SOURCE 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)
- Adrenal gland(2.2)
- 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 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ATP6AP2 31 30 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | ATP6AP2 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Atp6ap2 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Atp6ap2 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATP6AP2 31 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ATP6AP2 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATP6AP2 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ATP6AP2 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atp6ap2 30 |
|
||
| Str.1814 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | atp6ap2-prov 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp6ap2 31 30 |
|
OneToOne | |
| wufj36c03 30 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10522 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | VhaM8.9 31 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003430 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATP6AP2: view image
Paralogs for ATP6AP2 Gene
Pseudogenes.org Pseudogenes for ATP6AP2 Gene
No data available for Paralogs for ATP6AP2 Gene
Variants for ATP6AP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6AP2 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 668702 | Likely Benign: not provided | 40,597,364(+) | T/C | INTRON_VARIANT | |
| 668777 | Benign: not provided | 40,588,704(+) | T/TTTTG | INTRON_VARIANT | |
| 669790 | Benign: not provided | 40,598,994(+) | G/A | INTRON_VARIANT | |
| 670847 | Benign: not provided | 40,600,964(+) | A/T | INTRON_VARIANT | |
| 670923 | Likely Benign: not provided | 40,580,946(+) | G/C |
| 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
(7) MalaCards diseases for ATP6AP2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| parkinsonism with spasticity, x-linked |
|
|
| mental retardation, x-linked, syndromic, hedera type |
|
|
| spasticity |
|
|
| plantar fascial fibromatosis |
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| cutis laxa |
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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.
- Note=Defects in ATP6AP2 may be involved in a glycosylation disorder with autophagic defects characterized by serum protein hypoglycosylation, immunodeficiency, liver disease, psychomotor impairment, and cutis laxa. {ECO:0000269 PubMed:25944712}.
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 23 54
- 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 23 54
- 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 54
- Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. (PMID: 29127204) Rujano MA … Simons M (The Journal of experimental medicine 2017) 3 4 54
- Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (PMID: 23595882) Korvatska O … Raskind WH (Human molecular genetics 2013) 3 4 54
ExternalLinks
Products for ATP6AP2 Gene
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