ATP6AP2 Gene (Protein Coding)

ATPase H+ Transporting Accessory Protein 2

GC0XP040582
GIFtS:
45
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

Previous HGNC Symbols for ATP6AP2 Gene

  • ATP6IP2

Previous GeneCards Identifiers for ATP6AP2 Gene

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

Summaries for ATP6AP2 Gene

Entrez Gene Summary for ATP6AP2 Gene

  • This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6AP2 Gene

ATP6AP2 (ATPase H+ Transporting Accessory Protein 2) is a Protein Coding gene. Diseases associated with ATP6AP2 include Parkinsonism With Spasticity, X-Linked and Mental Retardation, X-Linked, Syndromic, Hedera Type. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. 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).

Gene Wiki entry for ATP6AP2 Gene

Additional gene information for ATP6AP2 Gene

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

Download GeneHancer 2017 data
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:
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 Structure • Gene Density

RefSeq DNA sequence for ATP6AP2 Gene

Proteins for ATP6AP2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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 (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};

    Three dimensional structures from OCA and Proteopedia for ATP6AP2 Gene

    Alternative splice isoforms for ATP6AP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6AP2 Gene

Protein Expression for ATP6AP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6AP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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)
genes like me logo Genes that share domains with ATP6AP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ATP6AP2 Gene

Function for ATP6AP2 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function 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 --
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV 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.

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
lysosome 5
extracellular 4
endosome 4
nucleus 3
endoplasmic reticulum 3
cytosol 3
mitochondrion 2
cytoskeleton 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP6AP2 Gene

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 --
genes like me logo Genes that share ontologies with ATP6AP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP6AP2 Gene

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

Drugs & Compounds for ATP6AP2 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for ATP6AP2 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6AP2

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

Expression for ATP6AP2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6AP2 Gene

mRNA expression in normal human tissues for ATP6AP2 Gene
mRNA expression by GTEx for ATP6AP2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for ATP6AP2 Gene



Protein tissue co-expression partners for ATP6AP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • 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
genes like me logo Genes that share expression patterns with ATP6AP2: view

Primer products 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.

Orthologs for ATP6AP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ATP6AP2 29 30
  • 99.88 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ATP6AP2 29 30
  • 91.14 (n)
 OneToMany
-- 30
  • 79 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia ATP6AP2 29 30
  • 90.29 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Atp6ap2 29 16 30
  • 89.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Atp6ap2 29
  • 89.4 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia ATP6AP2 30
  • 81 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ATP6AP2 30
  • 79 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ATP6AP2 29 30
  • 72.66 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ATP6AP2 30
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia atp6ap2 29
  • 69.78 (n)
Str.1814 29
African clawed frog
(Xenopus laevis)
 Amphibia atp6ap2-prov 29
Zebrafish
(Danio rerio)
 Actinopterygii atp6ap2 29 30
  • 67.34 (n)
 OneToOne
wufj36c03 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10522 29
Fruit Fly
(Drosophila melanogaster)
 Insecta VhaM8.9 29 30
  • 41.9 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003430 29
  • 41.19 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 25 (a)
 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
Alliance of Genome Resources:
Additional Orthologs for ATP6AP2

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

Products:

  1. SNP Genotyping and Copy Number Assays for research

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
1010312 Uncertain Significance: Mental retardation, X-linked, syndromic, Hedera type 40,581,098(+) G/A
NM_005765.3(ATP6AP2):c.33G>A (p.Val11=) 		SYNONYMOUS
1012647 Likely Benign: not provided 40,597,562(+) T/C
NM_005765.3(ATP6AP2):c.432T>C (p.Phe144=) 		SYNONYMOUS
1016932 Uncertain Significance: Mental retardation, X-linked, syndromic, Hedera type 40,597,660(+) A/G
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser) 		MISSENSE
1023367 Uncertain Significance: Mental retardation, X-linked, syndromic, Hedera type 40,591,354(+) C/T
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser) 		MISSENSE
1040448 Uncertain Significance: Mental retardation, X-linked, syndromic, Hedera type 40,597,585(+) G/A
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP6AP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ATP6AP2 Gene

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

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

MalaCards: The human disease database

(11) MalaCards diseases for ATP6AP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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, 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (Human molecular genetics 2005) 3 4 22 72
  2. 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 72
  3. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (PMID: 23595882) Korvatska O … Raskind WH (Human molecular genetics 2013) 3 4 72
  4. 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
  5. 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

View latest publications for ATP6AP2 gene in Mastermind

Products for ATP6AP2 Gene

Sources for ATP6AP2 Gene