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ATP6AP2 ATPase H+ transporting accessory protein 2 [ Homo sapiens (human) ]

Gene ID: 10159, updated on 22-Sep-2022

Summary

Official Symbol
ATP6AP2provided by HGNC
Official Full Name
ATPase H+ transporting accessory protein 2provided by HGNC
Primary source
HGNC:HGNC:18305
See related
Ensembl:ENSG00000182220 MIM:300556; AllianceGenome:HGNC:18305
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRR; M8-9; MRXE; RENR; XMRE; XPDS; CDG2R; HT028; MRXSH; ELDF10; ATP6IP2; MSTP009; APT6M8-9; ATP6M8-9
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 105.0), brain (RPKM 83.3) and 25 other tissues See more
Orthologs
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Genomic context

See ATP6AP2 in Genome Data Viewer
Location:
Xp11.4
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (40580970..40606848)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (39982532..40008405)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (40440222..40466100)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9554 Neighboring gene RNA, U7 small nuclear 164 pseudogene Neighboring gene chromosome X open reading frame 38 Neighboring gene mitochondrial pyruvate carrier 1 like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital disorder of glycosylation, type IIr
MedGen: C5393313 OMIM: 301045 GeneReviews: Not available
Compare labs
Syndromic X-linked intellectual disability Hedera type
MedGen: C1845543 OMIM: 300423 GeneReviews: Not available
Compare labs
X-linked parkinsonism-spasticity syndrome
MedGen: C3806722 OMIM: 300911 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-10-31)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-10-31)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC99577

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in Golgi lumen acidification IC
Inferred by Curator
more info
PubMed 
involved_in angiotensin maturation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in central nervous system maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endosomal lumen acidification IC
Inferred by Curator
more info
PubMed 
involved_in eye pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in head morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular pH reduction IC
Inferred by Curator
more info
PubMed 
involved_in lysosomal lumen acidification IC
Inferred by Curator
more info
PubMed 
involved_in lysosomal lumen acidification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transforming growth factor beta1 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proton transmembrane transport IC
Inferred by Curator
more info
PubMed 
involved_in regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in rostrocaudal neural tube patterning IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in synaptic vesicle lumen acidification IEA
Inferred from Electronic Annotation
more info
 
involved_in vacuolar acidification IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
located_in lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
part_of proton-transporting V-type ATPase complex IC
Inferred by Curator
more info
PubMed 
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
 
part_of vacuolar proton-transporting V-type ATPase complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase, V0 domain ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
renin receptor
Names
ATPase H(+)-transporting lysosomal-interacting protein 2
ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9
ATPase, H+ transporting, lysosomal accessory protein 2
ATPase, H+ transporting, lysosomal interacting protein 2
ER-localized type I transmembrane adapter
ER-localized type I transmembrane adaptor
N14F
V-ATPase M8.9 subunit
embryonic liver differentiation factor 10
prorenin receptor
renin/prorenin receptor
vacuolar ATP synthase membrane sector-associated protein M8-9
vacuolar proton ATP synthase membrane sector associated protein M8-9

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.

Genomic

  1. NG_008874.1 RefSeqGene

    Range
    5007..30885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005765.3NP_005756.2  renin receptor precursor

    See identical proteins and their annotated locations for NP_005756.2

    Status: REVIEWED

    Source sequence(s)
    AC092473
    Consensus CDS
    CCDS14252.1
    UniProtKB/Swiss-Prot
    O75787, Q9UG89
    Related
    ENSP00000490083.1, ENST00000636580.2
    Conserved Domains (1) summary
    pfam07850
    Location:254350
    Renin_r; Renin receptor-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    40580970..40606848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    39982532..40008405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)