• Gene id: 10159

Gene Summary

• Gene Symbol: ATP6AP2   Gene   UCSC   Ensembl
• Aliases: APT6M8-9, ATP6IP2, ATP6M8-9, CDG2R, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS
• Gene name: ATPase H+ transporting accessory protein 2
• Alternate names: renin receptor, 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, lysos,
• Gene location: Xp11.4 (40580969: 40606847)     Exons: 9     NC_000023.11
• Gene summary(Entrez): 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 h
• OMIM: 300556

Protein Summary

• Protein general information: O75787  
  • Name: Renin receptor (ATPase H(+) transporting lysosomal accessory protein 2) (ATPase H(+) transporting lysosomal interacting protein 2) (ER localized type I transmembrane adaptor) (Embryonic liver differentiation factor 10) (N14F) (Renin/prorenin receptor) (Va
  • Length: 350  
  • Mass: 39008
  • 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
• Sequence:

  MAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKEDLSWPGLAVGNLFHRPRAT
  VMVMVKGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEETPVVLQLAPSEERVYMVGKANSVFEDLSVT
  LRQLRNRLFQENSVLSSLPLNSLSRNNEVDLLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKR
  YGEDSEQFRDASKILVDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYN
  FEYSVVFNMVLWIMIALALAVIITSYNIWNMDPGYDSIIYRMTNQKIRMD

• Structural information:
  • Interpro: IPR012493  
  • PDB: 3LBS 3LC8
  • PDBsum: 3LBS 3LC8
  • STRING: ENSP00000367697
• Other Databases: GeneCards:  ATP6AP2  Malacards:  ATP6AP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043408	regulation of MAPK cascade	IDA	biological process
GO:0043408	regulation of MAPK cascade	IDA	biological process
GO:0002003	angiotensin maturation	IDA	biological process
GO:0002003	angiotensin maturation	IDA	biological process
GO:0032914	positive regulation of transforming growth factor beta1 production	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0030177	positive regulation of Wnt signaling pathway	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0007042	lysosomal lumen acidification	IMP	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0000421	autophagosome membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0032591	dendritic spine membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0030177	positive regulation of Wnt signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0060323	head morphogenesis	IMP	biological process
GO:0048069	eye pigmentation	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0021903	rostrocaudal neural tube patterning	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04614	Renin-angiotensin system

Diseases

Associated diseases	References
Syndromic X-linked mental retardation	KEGG:H00658
Syndromic X-linked mental retardation	KEGG:H00658
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray