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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-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]
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.
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 | -- |
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 | -- |
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 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||
SP5: |
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 |
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 |
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 |
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 |
|
|