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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
- ATP6M8-9 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
- ER-Localized Type I Transmembrane Adapter 3 4
- Embryonic Liver Differentiation Factor 10 3 4
- Renin/Prorenin Receptor 3 4
- V-ATPase M8.9 Subunit 3 4
- Prorenin Receptor 2 3
- APT6M8-9 2 3
- ATP6IP2 3 4
- ELDF10 3 4
- M8-9 2 3
- RENR 2 3
- N14F 3 4
- PRR 2 3
- 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
- ER-Localized Type I Transmembrane Adaptor 3
- MSTP009 3
- ATP6AP2 5
- CDG2R 3
- HT028 3
- MRXSH 3
- CAPER 4
- MRXE 3
- XMRE 3
- XPDS 3
External Ids for ATP6AP2 Gene
- HGNC: 18305
- NCBI Entrez Gene: 10159
- Ensembl: ENSG00000182220
- OMIM®: 300556
- UniProtKB/Swiss-Prot: 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 Summary for ATP6AP2 Gene
-
Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (v-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, PubMed:29127204, PubMed:30374053, PubMed:32276428). 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, may also play a role in the renin-angiotensin system (RAS) (PubMed:12045255). Through its function in V-type ATPase (v-ATPase) assembly and acidification of the lysosome it regulates protein degradation and may control different signaling pathways important for proper brain development, synapse morphology and synaptic transmission (By similarity).
Additional gene information for ATP6AP2 Gene
- HGNC (18305)
- NCBI Entrez Gene (10159)
- Ensembl (ENSG00000182220)
- OMIM® (300556)
- UniProtKB/Swiss-Prot (O75787)
- Open Targets Platform(ENSG00000182220)
- 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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chrX:40,579,372-40,606,848
- (GRCh38/hg38)
- Size:
- 27,477 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:40,440,222-40,466,100
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 25,879 bases
- Orientation:
- Plus strand
- chrX:40,440,146-40,465,889
- (GRCh37/hg19 by Ensembl)
- 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 VMA21 (via N-terminus); VMA21 is a v-ATPase accessory component (PubMed:29127204). Interacts with ATP6AP1 (via N-terminus) (PubMed:29127204). Interacts with ATP6V0D1; ATP6V0D1 is a v-ATPase complex subunit and the interaction promotes v-ATPase complex assembly (PubMed:30374053). Interacts with TMEM9; TMEM9 is a v-ATPase assembly regulator and the interaction induces the interaction with ATP6V0D1 (PubMed:30374053).
- 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:
-
- ENSP00000403969
- ENSP00000490083
- ENSP00000489819
- ENSP00000490558
- ENSP00000489845
- ENSP00000490733
- ENSP00000490382
- ENSP00000490954
- ENSP00000490239
- ENSP00000367697
- ENSP00000490462
- ENSP00000489653
- ENSP00000490675
- ENSP00000489920
- ENSP00000490532
- ENSP00000490345
- ENSP00000490706
- ENSP00000410105
- ENSP00000490452
- ENSP00000411317
- ENSP00000489622
- ENSP00000490884
- ENSP00000490257
- O75787.178
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ CAPER Antibody and Immunotag™ Caper 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 for research
-
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 for research
- 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
- InterPro:
- Blocks:
-
- Renin receptor-like
- 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 lysosomal proton-transporting V-type ATPase (v-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, PubMed:29127204, PubMed:30374053, PubMed:32276428). 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, may also play a role in the renin-angiotensin system (RAS) (PubMed:12045255). Through its function in V-type ATPase (v-ATPase) assembly and acidification of the lysosome it regulates protein degradation and may control different signaling pathways important for proper brain development, 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:
-
- no effect
- Decreased ionizing radiation sensitivity
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability (cell death)
- Decreased Salmonella enterica Typhimurium invasion
- Decreased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased Salmonella-containing vacuole maturation
- Decreased lymphocytic choriomeningitis virus (LCMV) infection
- Decreased Sindbis virus (SINV) infection
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
Animal Models for research
-
Taconic Biosciences Mouse Models for ATP6AP2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATP6AP2 - Starting at $85 >
- * ATP6AP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATP6AP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6AP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6AP2
miRNA for ATP6AP2 Gene
- miRTarBase miRNAs that target ATP6AP2
-
- mmu-miR-340-5p (MIRT010552)
- mmu-miR-19b-3p (MIRT012534)
- hsa-miR-148b-3p (MIRT019402)
- hsa-miR-26b-5p (MIRT029627)
- hsa-miR-1226-3p (MIRT036463)
- hsa-miR-140-3p (MIRT109893)
- mmu-miR-682 (MIRT596228)
- hsa-miR-576-5p (MIRT660431)
- hsa-miR-4263 (MIRT660432)
- hsa-miR-4735-5p (MIRT660433)
- hsa-miR-6832-3p (MIRT660434)
- hsa-miR-4640-3p (MIRT660435)
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for ATP6AP2 - Starting at $45 >
- * ATP6AP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATP6AP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6AP2
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. Endosome membrane.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| lysosome | 5 |
| extracellular | 4 |
| endosome | 4 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| cytosol | 3 |
| mitochondrion | 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 | IEA,IDA | 29127204 |
| GO:0005765 | lysosomal membrane | ISS | -- |
| 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
Selected Interacting proteins:
O75787-RENR_HUMAN
ENSP00000367697
for ATP6AP2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ATP6AP2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002003 | angiotensin maturation | TAS | -- |
| GO:0007042 | lysosomal lumen acidification | IMP | 32276428 |
| GO:0021626 | central nervous system maturation | IMP | 30985297 |
| GO:0021903 | rostrocaudal neural tube patterning | IMP | 20093472 |
| GO:0030177 | positive regulation of Wnt signaling pathway | IBA,IMP | 20093472 |
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 nts (view in UCSC)
- ENST00000423649 1093 nts (view in UCSC)
- ENST00000436783 554 nts (view in UCSC)
- ENST00000447485 1254 nts (view in UCSC)
- ENST00000479120 619 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATP6AP2 - Starting at $85 >
- * ATP6AP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATP6AP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6AP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6AP2
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for ATP6AP2 - Starting at $45 >
- * ATP6AP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATP6AP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6AP2
| 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(4.5)
- Lung(3.3)
- Skin(3.2)
- Blood(3)
- Heart(2.9)
- Adrenal gland(2.9)
- Muscle(2.7)
- Intestine(2.4)
- Thyroid gland(2.4)
- Bone marrow(2.3)
- Eye(2.3)
- Spleen(2.2)
- Pancreas(2.1)
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 for research
-
OriGene qPCR primer pairs for ATP6AP2
-
OriGene qPCR primer pairs and template standards for ATP6AP2
Gene Expression Assays for research
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 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATP6AP2 30 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | ATP6AP2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atp6ap2 30 17 31 |
|
OneToOne | |
| 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 30 31 |
|
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 30 31 |
|
OneToOne | |
| wufj36c03 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10522 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | VhaM8.9 30 31 |
|
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 (Eremothecium 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 Vase (Ciona intestinalis)
- 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 |
|---|---|---|---|---|---|
| 852040 | Uncertain Significance: Mental retardation, X-linked, syndromic, Hedera type | 40,589,108(+) |
G/T NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu) |
MISSENSE | |
| 854936 | Uncertain Significance: Mental retardation, X-linked, syndromic, Hedera type | 40,605,717(+) |
A/G NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val) |
MISSENSE | |
| 861472 | Uncertain Significance: Mental retardation, X-linked, syndromic, Hedera type | 40,591,283(+) |
G/A NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln) |
MISSENSE | |
| 862603 | Uncertain Significance: Mental retardation, X-linked, syndromic, Hedera type | 40,588,998(+) |
A/G NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser) |
MISSENSE | |
| 869366 | Pathogenic: Congenital disorder of glycosylation, type IIr | 40,591,358(+) |
T/C NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6AP2 Gene
Disorders for ATP6AP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| parkinsonism with spasticity, x-linked |
|
|
| mental retardation, x-linked, syndromic, hedera type |
|
|
| congenital disorder of glycosylation, type iir |
|
|
| ornithine transcarbamylase deficiency, hyperammonemia due to |
|
|
| parkinsonism |
|
|
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, ECO:0000269 PubMed:30985297}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.
- Congenital disorder of glycosylation 2R (CDG2R) [MIM:301045]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2R is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. {ECO:0000269 PubMed:29127204}. Note=The disease is caused by variants 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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ATP6AP2 Gene
Publications for ATP6AP2 Gene
- 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 74
- Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (PMID: 23595882) Korvatska O … Raskind WH (Human molecular genetics 2013) 3 4 74
- 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
- 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
- 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
ExternalLinks
Products for ATP6AP2 Gene
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Sources for ATP6AP2 Gene
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