ATPase H+ transporting accessory protein 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesAdult onset neurodegenerative disorder
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCholestasis
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Congenital disorders of glycosylation
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Primary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Adult onset dystonia, chorea or related movement disorder
X-LINKED: hemizygous mutation in males, biallelic mutations in females+2 more panels — install the extension to see the full list inline on any page.
syndromic X-linked intellectual disability Hedera type
X-linked intellectual disability, Hedera type
congenital disorder of glycosylation type II
neurodegenerative disease
X-linked intellectual disability - epilepsy
X-linked parkinsonism-spasticity syndrome
ATP6AP2-related disorder
hereditary disease
neoplasm
familial dilated cardiomyopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Renin receptor
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)
ATP6AP2 · O75787
Mean pLDDT
79.2/ 100
Confident
350 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
