ATP6AP2 - ATPase H+ transporting accessory protein 2 Gene

Homo sapiens

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

Gene ID: 10159 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12045255	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Recombinant ATP6AP2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72099	ATP6AP2 Protein, Human (His)	O75787 (N17-D350)	≥95%
HY-P72100	ATP6AP2 Protein, Human (His-SUMO)	O75787 (N17-D350)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01215	ATP6AP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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