1. Gene
  2. ATP6AP2 - ATPase H+ transporting accessory protein 2 Gene

ATP6AP2 - ATPase H+ transporting accessory protein 2 Gene

中文名称:ATPase H+ 转运辅助蛋白 2

种属: Homo sapiens

同用名: PRR; M8-9; MRXE; RENR; XMRE; XPDS; CDG2R; HT028; MRXSH; ELDF10; ATP6IP2; MSTP009; APT6M8-9; ATP6M8-9

基因 ID: 10159 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种与三磷酸腺苷酶 (ATPases) 相关的蛋白质。质子转运 ATP 酶在能量守恒、二次主动转运、细胞内区室酸化和细胞 pH 稳态中具有重要作用。存在三类 ATP 酶 - F、P 和 V。液泡 (V 型) ATP 酶具有跨膜质子传导部分和膜外催化部分。已发现编码的蛋白质与 V 型 ATP 酶的跨膜区有关。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

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

ATP6AP2 蛋白结构

Renin_r

Renin_r: Renin receptor-like protein (254 - 350)

  • 0
  • 100
  • 200
  • 300
  • 350 a.a.
蛋白主名 其他名称

renin receptor

ATPase H(+)-transporting lysosomal-interacting protein 2

重组 ATP6AP2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72099 ATP6AP2 Protein, Human (His) O75787 (N17-D350) ≥95%
HY-P72100 ATP6AP2 Protein, Human (His-SUMO) O75787 (N17-D350) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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