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ATP6AP2

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).

Involvement in disease

Intellectual developmental disorder, X-linked, syndromic, Hedera type

MRXSH

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSH patients manifest mild to moderate intellectual disability associated with epilepsy, delays in motor milestones and speech acquisition in infancy.

None

The disease is caused by variants affecting the gene represented in this entry.

Parkinsonism with spasticity, X-linked

XPDS

A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.

None

The disease is caused by variants affecting the gene represented in this entry.

Congenital disorder of glycosylation 2R

CDG2R

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

Post-translational modifications

Phosphorylated.

Proteolytically cleaved by a furin-like convertase in the trans-Golgi network to generate N- and C-terminal fragments.

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.

Cellular localization

Alternative names

ATP6IP2, CAPER, ELDF10, HT028, MSTP009, PSEC0072, ATP6AP2, Renin receptor, ATPase H(+)-transporting lysosomal accessory protein 2, ATPase H(+)-transporting lysosomal-interacting protein 2, ER-localized type I transmembrane adapter, Embryonic liver differentiation factor 10, N14F, Renin/prorenin receptor, Vacuolar ATP synthase membrane sector-associated protein M8-9, ATP6M8-9, V-ATPase M8.9 subunit

swissprot:O75787 omim:300556 entrezGene:10159