Atp6ap2 ATPase, H+ transporting, lysosomal accessory protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6ap2provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal accessory protein 2provided by MGI
Primary source: MGI:MGI:1917745
See related: Ensembl:ENSMUSG00000031007 AllianceGenome:MGI:1917745
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PRR; M8-9; (P)RR; Atp6ip2; APT6M8-9; ATP6M8-9; 5730403E06Rik
Summary: Predicted to enable signaling receptor activity. Involved in central nervous system maturation; positive regulation of Wnt signaling pathway; and synaptic vesicle lumen acidification. Located in endosome membrane and lysosomal membrane. Is expressed in brain; extraembryonic component; intestine; neural retina; and renal cortex. Human ortholog(s) of this gene implicated in X-linked parkinsonism-spasticity syndrome; congenital disorder of glycosylation type II; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ATP6AP2 (ATPase H+ transporting accessory protein 2). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in frontal lobe adult (RPKM 38.8), cerebellum adult (RPKM 37.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 7.42 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (12453998..12483290)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (12587759..12617051)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Collecting Duct Pro(Renin) Receptor Contributes to Unilateral Ureteral Obstruction-Induced Kidney Injury via Activation of the Intrarenal RAS.
Title: Collecting Duct Pro(Renin) Receptor Contributes to Unilateral Ureteral Obstruction-Induced Kidney Injury via Activation of the Intrarenal RAS.
Nephron specific ATP6AP2 knockout increases urinary excretion of fatty acids and decreases renal cortical megalin expression.
Title: Nephron specific ATP6AP2 knockout increases urinary excretion of fatty acids and decreases renal cortical megalin expression.
Downregulation of the (pro)renin receptor alleviates ferroptosis-associated cardiac pathological changes via the NCOA 4-mediated ferritinophagy pathway in diabetic cardiomyopathy.
Title: Downregulation of the (pro)renin receptor alleviates ferroptosis-associated cardiac pathological changes via the NCOA 4-mediated ferritinophagy pathway in diabetic cardiomyopathy.
(Pro)renin receptor mediates tubular epithelial cell pyroptosis in diabetic kidney disease via DPP4-JNK pathway.
Title: (Pro)renin receptor mediates tubular epithelial cell pyroptosis in diabetic kidney disease via DPP4-JNK pathway.
Genetic Ablation of Prorenin Receptor in the Rostral Ventrolateral Medulla Influences Blood Pressure and Hydromineral Balance in Deoxycorticosterone-Salt Hypertension.
Title: Genetic Ablation of Prorenin Receptor in the Rostral Ventrolateral Medulla Influences Blood Pressure and Hydromineral Balance in Deoxycorticosterone-Salt Hypertension.
Endothelin-1 production via placental (pro)renin receptor in a mouse model of preeclampsia.
Title: Endothelin-1 production via placental (pro)renin receptor in a mouse model of preeclampsia.
High-plasma soluble prorenin receptor is associated with vascular damage in male, but not female, mice fed a high-fat diet.
Title: High-plasma soluble prorenin receptor is associated with vascular damage in male, but not female, mice fed a high-fat diet.
(Pro)renin receptor promotes colorectal cancer progression through inhibiting the NEDD4L-mediated Wnt3 ubiquitination and modulating gut microbiota.
Title: (Pro)renin receptor promotes colorectal cancer progression through inhibiting the NEDD4L-mediated Wnt3 ubiquitination and modulating gut microbiota.
Endothelial cell polarity and extracellular matrix composition require functional ATP6AP2 during developmental and pathological angiogenesis.
Title: Endothelial cell polarity and extracellular matrix composition require functional ATP6AP2 during developmental and pathological angiogenesis.
(Pro)renin Receptor Knockdown Attenuates Liver Fibrosis Through Inactivation of ERK/TGF-beta1/SMAD3 Pathway.
Title: (Pro)renin Receptor Knockdown Attenuates Liver Fibrosis Through Inactivation of ERK/TGF-β1/SMAD3 Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in angiotensin maturation	IEA Inferred from Electronic Annotation more info
involved_in angiotensin maturation	ISO Inferred from Sequence Orthology more info
involved_in central nervous system maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in central nervous system maturation	ISO Inferred from Sequence Orthology more info
involved_in eye pigmentation	IEA Inferred from Electronic Annotation more info
involved_in eye pigmentation	ISO Inferred from Sequence Orthology more info
involved_in head morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in head morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in lysosomal lumen acidification	ISO Inferred from Sequence Orthology more info
involved_in lysosomal lumen acidification	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transforming growth factor beta1 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transforming growth factor beta1 production	ISO Inferred from Sequence Orthology more info
involved_in regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in rostrocaudal neural tube patterning	IEA Inferred from Electronic Annotation more info
involved_in rostrocaudal neural tube patterning	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle lumen acidification	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cell body	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in dendritic spine membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase complex	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase, V0 domain	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: renin receptor

Names: ATPase H(+)-transporting lysosomal-interacting protein 2; ATPase, H+ transporting, lysosomal interacting protein 1; ATPase, H+ transporting, lysosomal interacting protein 2; prorenin receptor; renin/prorenin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.