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

Also Known as DD; DAR; ATP2B; SERCA2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 488

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables P-type calcium transporter activity	IDA IDA: Inferred from direct assay	16402920	GOA
enables P-type calcium transporter activity involved in regulation of cardiac muscle cell membrane potential	IDA IDA: Inferred from direct assay	28890335	GOA
enables S100 protein binding	IPI IPI: Inferred from physical interaction	12804600	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	16402920	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	21903937	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14749390	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	18068335	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome assembly	IDA IDA: Inferred from direct assay	28890335	GOA
involved in autophagosome membrane docking	IDA IDA: Inferred from direct assay	28890335	GOA
involved in calcium ion import into sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	16402920	GOA
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	16402920	GOA
involved in calcium ion transport from cytosol to endoplasmic reticulum	IDA IDA: Inferred from direct assay	16402920	GOA
involved in endoplasmic reticulum calcium ion homeostasis	IDA IDA: Inferred from direct assay	10587333	GOA
involved in intracellular calcium ion homeostasis	IDA IDA: Inferred from direct assay	10587333	GOA
involved in intracellular calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	18068335	GOA
involved in mitochondrion-endoplasmic reticulum membrane tethering	IDA IDA: Inferred from direct assay	28890335	GOA
involved in negative regulation of receptor binding	IMP IMP: Inferred from mutant phenotype	18068335	GOA
involved in organelle localization by membrane tethering	IDA IDA: Inferred from direct assay	28890335	GOA
involved in positive regulation of endoplasmic reticulum calcium ion concentration	IDA IDA: Inferred from direct assay	16402920	GOA
involved in regulation of cardiac muscle cell membrane potential	IDA IDA: Inferred from direct assay	16402920	GOA
involved in regulation of cardiac muscle contraction by calcium ion signaling	IDA IDA: Inferred from direct assay	10587333	GOA
involved in relaxation of cardiac muscle	IDA IDA: Inferred from direct assay	10587333	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of calcium ion-transporting ATPase complex	IDA IDA: Inferred from direct assay	16402920	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	16081076	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	11402072	GOA
colocalizes with intercalated disc	IDA IDA: Inferred from direct assay	16402920	GOA
located in longitudinal sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	16402920	GOA
located in membrane	IDA IDA: Inferred from direct assay	22375059	GOA
located in sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	12804600	GOA
located in sarcoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16402920	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

ATP2A2 Protein Structure

Cation_ATPase_N

E1-E2_ATPase

Cation_ATPase

Hydrolase

Cation_ATPase_C

0
200
400
600
800
1042 a.a.

Protein Preferred Names	Protein Names
sarcoplasmic/endoplasmic reticulum calcium ATPase 2	ATPase Ca++ transporting cardiac muscle slow twitch 2

ATP2A2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP2A2	P16615	OPRD1	Homo sapiens	P41143	Anti Bait CoIP	20528919
Intra	ATP2A2	P16615	F2RL1	Homo sapiens	P55085	Anti Bait CoIP	28298427
Intra	ATP2A2	P16615	F2RL1	Homo sapiens	P55085	Ub Reconstruction	28298427

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ATP2A2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72094	ATP2A2 Protein, Human (His)	P16615 (V314-M756)	≥ 90%, as determined by reducing SDS-PAGE.

ATP2A2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82186	SERCA2 ATPase Antibody (YA1931)	WB, IHC-F, IHC-P, ICC/IF	Human, Rat
HY-P82186A	SERCA2 ATPase Antibody (YA1931)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Rat

Related Diseases

Diseases	Alias
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]

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 (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131760	2'-NH2-ATP		/	Unkown
HY-131760A	2'-NH2-ATP tetrasodium		/	Unkown
HY-RS01192	ATP2A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01195	ATP2B2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01199	ATP2C2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17846	Atp2a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24314	Atp2a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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