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

Gene ID: 70495, updated on 11-Jun-2024

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 and positive regulation of Wnt signaling pathway. Located in endosome membrane and lysosomal membrane. Is expressed in several structures, including decidua; extraembryonic component; forebrain; 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, Apr 2022]
Expression
Broad expression in frontal lobe adult (RPKM 38.8), cerebellum adult (RPKM 37.1) and 25 other tissues See more
Orthologs
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Genomic context

See Atp6ap2 in Genome Data Viewer
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_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_46752 Neighboring gene predicted gene, 54072 Neighboring gene STARR-seq mESC enhancer starr_46755 Neighboring gene STARR-positive B cell enhancer ABC_E3259 Neighboring gene IK cytokine pseudogene Neighboring gene nucleolar protein 56 pseudogene Neighboring gene predicted pseudogene 4984

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 ISO
Inferred from Sequence Orthology
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 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 transforming growth factor beta1 production ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of MAPK cascade ISO
Inferred from Sequence Orthology
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 cell body ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
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 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 plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in synapse 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
 

General protein information

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.

mRNA and Protein(s)

  1. NM_027439.4NP_081715.1  renin receptor precursor

    See identical proteins and their annotated locations for NP_081715.1

    Status: VALIDATED

    Source sequence(s)
    AK076495, AW475779, AW985491, BY784908
    Consensus CDS
    CCDS30023.1
    UniProtKB/Swiss-Prot
    A2BDN5, Q8BVU6, Q91YU5, Q9CYN9
    UniProtKB/TrEMBL
    Q1XID4
    Related
    ENSMUSP00000033313.3, ENSMUST00000033313.3
    Conserved Domains (1) summary
    pfam07850
    Location:255350
    Renin_r; Renin receptor-like protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    12453998..12483290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)