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

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; (P)RR; 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: mouse all
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Genomic context

Location:: Xp11.4

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (40580970..40606848)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (39982532..40008405)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (40440222..40466100)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human V-ATPase function is positively and negatively regulated by TLDc proteins.
Title: Human V-ATPase function is positively and negatively regulated by TLDc proteins.
Targeting the (pro)renin receptor in cancers: from signaling to pathophysiological effects.
Title: Targeting the (pro)renin receptor in cancers: from signaling to pathophysiological effects.
Hormone-Dependent Regulation of Renin and Effects on Prorenin Receptor Signaling in the Collecting Duct.
Title: Hormone-Dependent Regulation of Renin and Effects on Prorenin Receptor Signaling in the Collecting Duct.
The Role of (Pro)Renin Receptor in the Metabolic Syndrome.
Title: The Role of (Pro)Renin Receptor in the Metabolic Syndrome.
(Pro)renin Receptor and Blood Pressure Regulation: A Focus on the Central Nervous System.
Title: (Pro)renin Receptor and Blood Pressure Regulation: A Focus on the Central Nervous System.
Role of the prorenin receptor in endometrial cancer cell growth.
Title: Role of the prorenin receptor in endometrial cancer cell growth.
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
Title: Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
(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.
The (pro)renin receptor and soluble (pro)renin receptor in choriocarcinoma.
Title: The (pro)renin receptor and soluble (pro)renin receptor in choriocarcinoma.
Functions of the (pro)renin receptor (Atp6ap2) at molecular and system levels: pathological implications in hypertension, renal and brain development, inflammation, and fibrosis.
Title: Functions of the (pro)renin receptor (Atp6ap2) at molecular and system levels: pathological implications in hypertension, renal and brain development, inflammation, and fibrosis.

Submit: New GeneRIF Correction See all GeneRIFs (100)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-21507 (e-PCR)
- UniSTS:82974

DXS1069 (e-PCR), detects polymorphism
- UniSTS:13408

DXS8090 (e-PCR)
- UniSTS:54660

RH169 (e-PCR)
- UniSTS:65170

DXS8102 (e-PCR)
- UniSTS:57747

SHGC-31934 (e-PCR)
- UniSTS:40354

DXS8085 (e-PCR), detects polymorphism
- UniSTS:63947

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	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement more info	PubMed
involved_in lysosomal lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosomal lumen acidification	NAS Non-traceable Author Statement more info	PubMed
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 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	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	NAS Non-traceable Author Statement more info	PubMed
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in axon	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
located_in endosome membrane	NAS Non-traceable Author Statement 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	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	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 lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
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	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement 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

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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.