1. Gene
  2. ATP2A2 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Gene

ATP2A2 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Gene

中文名称:ATPase 肌浆/内质网 Ca2+ 转运 2

种属: Homo sapiens

同用名: DD; DAR; ATP2B; SERCA2

基因 ID: 488 | 基因类型: protein coding

关于 ATP2A2

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:110,281,247-110,351,093 (from NCBI)

This gene has 12 transcripts (splice variants), 178 orthologues, 21 paralogues and is associated with 5 phenotypes. Broad expression in heart (RPKM 220.5), esophagus (RPKM 62.0) and 24 other tissues.

功能概要

该基因编码一种 SERCA CA (2+) -ATP 酶,它是位于骨骼肌肌浆或内质网中的细胞内泵。这种酶催化 ATP 的水解以及钙从胞质溶胶转移到肌浆网腔,并参与收缩/松弛周期的调节。该基因的突变会导致 Darier-White 病,也称为毛囊角化病,这是一种常染色体显性遗传的皮肤病,其特征是表皮细胞之间的粘附力丧失和角化异常。该基因的其他类型突变与各种形式的肌营养不良症有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2019 年 12 月]

This gene encodes one of the SERCA CA(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This Enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]

ATP2A2 基因产物(5)

mRNA Protein Name
NM_001413013.1 NP_001399942.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform c
NM_001413014.1 NP_001399943.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform d
NM_001413015.1 NP_001399944.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform e
NM_001681.4 NP_001672.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform a
NM_170665.4 NP_733765.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables P-type calcium transporter activity IDA
IDA: 通过直接分析推断
16402920 GOA
enables P-type calcium transporter activity involved in regulation of cardiac muscle cell membrane potential IDA
IDA: 通过直接分析推断
28890335 GOA
enables S100 protein binding IPI
IPI: 通过物理相互作用推断
12804600 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
16402920 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
21903937 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14749390 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
18068335 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagosome assembly IDA
IDA: 通过直接分析推断
28890335 GOA
involved in autophagosome membrane docking IDA
IDA: 通过直接分析推断
28890335 GOA
involved in calcium ion import into sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
16402920 GOA
involved in calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
16402920 GOA
involved in calcium ion transport from cytosol to endoplasmic reticulum IDA
IDA: 通过直接分析推断
16402920 GOA
involved in endoplasmic reticulum calcium ion homeostasis IDA
IDA: 通过直接分析推断
10587333 GOA
involved in intracellular calcium ion homeostasis IDA
IDA: 通过直接分析推断
10587333 GOA
involved in intracellular calcium ion homeostasis IMP
IMP: 通过突变表型推断
18068335 GOA
involved in mitochondrion-endoplasmic reticulum membrane tethering IDA
IDA: 通过直接分析推断
28890335 GOA
involved in negative regulation of receptor binding IMP
IMP: 通过突变表型推断
18068335 GOA
involved in organelle localization by membrane tethering IDA
IDA: 通过直接分析推断
28890335 GOA
involved in positive regulation of endoplasmic reticulum calcium ion concentration IDA
IDA: 通过直接分析推断
16402920 GOA
involved in regulation of cardiac muscle cell membrane potential IDA
IDA: 通过直接分析推断
16402920 GOA
involved in regulation of cardiac muscle contraction by calcium ion signaling IDA
IDA: 通过直接分析推断
10587333 GOA
involved in relaxation of cardiac muscle IDA
IDA: 通过直接分析推断
10587333 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of calcium ion-transporting ATPase complex IDA
IDA: 通过直接分析推断
16402920 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
16081076 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
11402072 GOA
colocalizes with intercalated disc IDA
IDA: 通过直接分析推断
16402920 GOA
located in longitudinal sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
16402920 GOA
located in membrane IDA
IDA: 通过直接分析推断
22375059 GOA
located in sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
12804600 GOA
located in sarcoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
16402920 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ATP2A2 蛋白结构

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (5 - 72)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (93 - 341)

Cation_ATPase

Cation_ATPase: Cation transport ATPase (P-type) (418 - 527)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (564 - 713)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (783 - 985)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1042 a.a.
蛋白主名 其他名称

sarcoplasmic/endoplasmic reticulum calcium ATPase 2

ATPase Ca++ transporting cardiac muscle slow twitch 2

ATP2A2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ATP2A2 P16615 OPRD1 Homo sapiens P41143
Anti Bait CoIP
20528919
种属内
ATP2A2 P16615 F2RL1 Homo sapiens P55085
Anti Bait CoIP
28298427
种属内
ATP2A2 P16615 F2RL1 Homo sapiens P55085
Ub Reconstruction
28298427
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ATP2A2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72094 ATP2A2 Protein, Human (His) P16615 (V314-M756) ≥95%

ATP2A2 抗体

目录号 产品名 应用 反应物种
HY-P82186 SERCA2 ATPase Antibody (YA1931) WB, IHC-F, IHC-P, ICC/IF Human, Rat

关联疾病

疾病名称 别名
Darier-White Disease

Keratosis Follicularis

Darier Disease

Darier'S Disease

DAR

DD

Darier White Disease

Darier Disease Acral Hemorrhagic Type

Darier Disease Segmental

Darier Disease, Acral Hemorrhagic Type

Darier Disease, Segmental

Acrokeratosis Verruciformis

Acrokeratosis Verruciformis Of Hopf

Hopf Disease

AKV

Akv Of Hopf

Keratosis

Actinic Keratosis

Hyperkeratosis

Benign Chronic Pemphigus

Hailey-Hailey Disease

Pemphigus, Benign Familial

Familial Benign Pemphigus

Benign Familial Pemphigus

Familial Benign Chronic Pemphigus

BCPM

HHD

Benign Chronic Familial Pemphigus Of Hailey-Hailey

Pemphigus, Chronic, Benign

Mitral Valve Stenosis

Mitral Stenosis

Rheumatic Mitral Stenosis

Ms - [Mitral Stenosis]

Mitral Valvular Stricture

Mitral Valve Stricture

Mitral Stricture

Chronic Mitral Stenosis

Mitral Obstruction

Mitral Valve Obstruction

Mitral Stenosis With Incompetence

Mitral Stenosis With Regurgitation

Rheumatic Mitral Insufficiency With Obstruction

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Acantholytic Acanthoma
Lichen Nitidus

Pinkus' Disease

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Spinocerebellar Ataxia 26

Spinocerebellar Ataxia Type 26

SCA26

Ataxia, Spinocerebellar, Type 26

Cicatricial Lagophthalmos
Anhidrosis, Isolated, With Normal Sweat Glands

Isolated Anhidrosis With Normal Sweat Glands

Dann-Epstein-Sohar Syndrome

ANHD

Isolated Generalized Anhidrosis With Normal Sweat Glands

Anhidrosis, Familial Generalized, With Normal Sweat Glands

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Diastolic Heart Failure

Heart Failure, Diastolic

Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation

Ebsmp

Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

Ebs-Mp

EBS2F

Ebs With Mottled Pigmentation

Epidermolysis Bullosa Simplex-Mp

Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

Epidermolysis Bullosa Simplex, With Mottled Pigmentation

Parkinson Disease 14, Autosomal Recessive

PARK14

Dystonia-Parkinsonism, Adult-Onset

Autosomal Recessive Parkinson Disease 14

Parkinson'S Disease 14

Dystonia-Parkinsonism Adult-Onset

Adult-Onset Dystonia-Parkinsonism

Dystonia-Parkinsonism, Paisan-Ruiz Type

Pla2g6-Related Dystonia-Parkinsonism

Parkinson Disease 14

Autosomal Recessive Parkinson'S Disease 14

Nbia/Dyt/Park-Pla2g6

Dystonia-Parkinsonism Paisan-Ruiz Type

Parkinson Disease 14 Autosomal Recessive

Parkinson Disease, Type 14

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome

Macrocephaly-Intellectual Disability-Autism Syndrome

MCEPHAS

Brody Disease

Brody Myopathy

BROD

Sarcoplasmic Reticulum -Ca2+Atpase Deficiency

Myopathy, Brody

Toxicodendron Dermatitis

Dermatitis, Toxicodendron

Contact Dermatitis Due To Genus Toxicodendron

Rhus Dermatitis

Dermatitis Toxicodendron

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Nevus, Epidermal

Epidermal Nevus

Woolly Hair Nevus

Epidermal Naevus

Epidermal Nevus Syndrome

Nevus, Keratinocytic, Nonepidermolytic

Epidermal Nevus, Somatic

Nevus, Epidermal, Somatic

Nevus Sebaceous Or Woolly Hair Nevus, Somatic

Nonepidermolytic Keratinocytic Nevus

Epidermal Hamartoma Syndrome

Wooly Hair Nevus

Keratinocytic Non-Epidermolytic Nevus

KNEN

Pigmented Moles

Organoid Nevus Phakomatosis

Nevus Sebaceous

Melanocytic Nevus

Melanocytic Nevus Of Skin

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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
Canis familiaris ATP2A2 VGNC VGNC:38254
Macaca mulatta ATP2A2 VGNC VGNC:70178
Rattus norvegicus ATP2A2 RGD RGD:2174
Mus musculus ATP2A2 MGD MGI:88110
Bos taurus ATP2A2 VGNC VGNC:26291
Felis catus ATP2A2 VGNC VGNC:80423
Others ATP2A2 NCBI