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

Homo sapiens

Also known as DD; DAR; ATP2B; SERCA2

Gene ID: 488 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Recombinant ATP2A2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72094	ATP2A2 Protein, Human (His)	P16615 (V314-M756)	≥95%

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

Bioactive Molecules (4)

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