ATP6AP2 - ATPase H+ transporting accessory protein 2 Gene

Also Known as PRR; M8-9; MRXE; RENR; XMRE; XPDS; CDG2R; HT028; MRXSH; ELDF10; ATP6IP2; MSTP009; APT6M8-9; ATP6M8-9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10159

About ATP6AP2

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:40,580,970-40,606,848 (from NCBI)

This gene has 33 transcripts (splice variants), 229 orthologues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 105.0), brain (RPKM 83.3) and 25 other tissues.

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]

ATP6AP2 Products (1)

mRNA	Protein	Name
NM_005765.3	NP_005756.2	renin receptor precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12045255	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in angiotensin maturation	IDA IDA: Inferred from direct assay	12045255	GOA
involved in central nervous system maturation	IMP IMP: Inferred from mutant phenotype	30985297	GOA
involved in eye pigmentation	IMP IMP: Inferred from mutant phenotype	20093472	GOA
involved in head morphogenesis	IMP IMP: Inferred from mutant phenotype	20093472	GOA
involved in lysosomal lumen acidification	IMP IMP: Inferred from mutant phenotype	32276428	GOA
involved in positive regulation of Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	20093472	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	30374053	GOA
involved in positive regulation of transforming growth factor beta1 production	IDA IDA: Inferred from direct assay	16374430	GOA
involved in regulation of MAPK cascade	IDA IDA: Inferred from direct assay	12045255	GOA
involved in rostrocaudal neural tube patterning	IMP IMP: Inferred from mutant phenotype	20093472	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	29127204	GOA
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	12045255	GOA
located in lysosome	IDA IDA: Inferred from direct assay	29127204	GOA
located in membrane	IDA IDA: Inferred from direct assay	33065002	GOA
part of vacuolar proton-transporting V-type ATPase complex	IMP IMP: Inferred from mutant phenotype	29127204	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP6AP2 Protein Structure

Renin_r

0
100
200
300
350 a.a.

Protein Preferred Names	Protein Names
renin receptor	ATPase H(+)-transporting lysosomal-interacting protein 2

ATP6AP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP6AP2	O75787	VAMP5	Homo sapiens	O95183	Validated Y2H	32296183
Intra	ATP6AP2	O75787	TMEM97	Homo sapiens	Q5BJF2	Validated Y2H	32296183
Intra	ATP6AP2	O75787	TMEM203	Homo sapiens	Q969S6	Validated Y2H	32296183
Intra	ATP6AP2	O75787	PMP22	Homo sapiens	Q01453	Validated Y2H	32296183
Intra	ATP6AP2	O75787	CD72	Homo sapiens	P21854	Validated Y2H	32296183
Intra	ATP6AP2	O75787	PTTG1IP	Homo sapiens	P53801	Validated Y2H	32296183
Intra	ATP6AP2	O75787	NKG7	Homo sapiens	Q16617	Validated Y2H	32296183
Intra	ATP6AP2	O75787	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Prey Pooling	32296183
Intra	ATP6AP2	O75787	TIMMDC1	Homo sapiens	Q9NPL8	Validated Y2H	32296183
Intra	ATP6AP2	O75787	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Array	32296183
Intra	ATP6AP2	O75787	NSG1	Homo sapiens	P42857	Validated Y2H	32296183
Intra	ATP6AP2	O75787	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ATP6AP2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72099	ATP6AP2 Protein, Human (His)	O75787 (N17-D350)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P72100	ATP6AP2 Protein, Human (His-SUMO)	O75787 (N17-D350)	≥ 90%, as determined by reducing SDS-PAGE.

ATP6AP2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810967	Renin Receptor Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat, Chicken, Pig, Dog, Bovine

Related Diseases

Diseases	Alias
Parkinsonism With Spasticity, X-Linked	X-Linked Parkinsonism-Spasticity Syndrome XPDS X-Linked Parkinsonism With Spasticity
Congenital Disorder Of Glycosylation, Type Iir	CDG2R Cdg Iir Cdgiir Congenital Disorder Of Glycosylation 2r
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	MRXSH Mental Retardation, X-Linked, Syndromic, Hedera Type Mrxe Intellectual Developmental Disorder, X-Linked Syndromic, Hedera Type X-Linked Intellectual Disability, Hedera Type Mental Retardation, X-Linked, With Epilepsy
Syndromic X-Linked Intellectual Disability Hedera Type	Mental Retardation, X-Linked, Syndromic, Hedera Type Mrxe Mrxsh
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Spasticity
Plantar Fascial Fibromatosis	Dupuytren'S Contracture Of Foot Ledderhose'S Disease Fibromatosis, Plantar Ledderhose Disease
Breast Granular Cell Tumor
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Alcoholic Cardiomyopathy	Cardiomyopathy, Alcoholic Alcohol-Induced Heart Muscle Disease Dilated Cardiomyopathy Secondary To Alcohol
Renovascular Hypertension	Hypertension, Renovascular Hypertension Renovascular
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01215	ATP6AP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19275	Atp6ap2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25764	Atp6ap2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATP6AP2	MGD	MGI:1917745
Rattus norvegicus	ATP6AP2	RGD	RGD:1561269
Canis familiaris	ATP6AP2	VGNC	VGNC:38267
Felis catus	ATP6AP2	VGNC	VGNC:60021
Macaca mulatta	ATP6AP2	VGNC	VGNC:103790
Others	ATP6AP2	NCBI