ATP2B3 - ATPase plasma membrane Ca2+ transporting 3 Gene

Also Known as CLA2; OPCA; PMCA3; SCAX1; CFAP39; PMCA3a

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 492

About ATP2B3

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,517,642-153,582,929 (from NCBI)

This gene has 11 transcripts (splice variants), 129 orthologues, 21 paralogues and is associated with 87 phenotypes. Biased expression in brain (RPKM 3.7) and adrenal (RPKM 2.1).

Summary

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These Enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these Enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B3 Products (6)

mRNA	Protein	Name
NM_001001344.3	NP_001001344.1	plasma membrane calcium-transporting ATPase 3 isoform 3b
NM_001388360.1	NP_001375289.1	plasma membrane calcium-transporting ATPase 3 isoform 3a
NM_001388361.1	NP_001375290.1	plasma membrane calcium-transporting ATPase 3 isoform 3b
NM_001388362.1	NP_001375291.1	plasma membrane calcium-transporting ATPase 3 isoform 4
NM_001410708.1	NP_001397637.1	plasma membrane calcium-transporting ATPase 3 isoform 5
NM_021949.4	NP_068768.2	plasma membrane calcium-transporting ATPase 3 isoform 3a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	18029012	GOA
enables P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	18029012	GOA
enables calcium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	18029012	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18029012	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion export across plasma membrane	IDA IDA: Inferred from direct assay	18029012	GOA
involved in regulation of cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	18029012	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in GABA-ergic synapse	IDA IDA: Inferred from direct assay	18029012	GOA
is active in GABA-ergic synapse	IMP IMP: Inferred from mutant phenotype	18029012	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	18029012	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	18029012	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18029012	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

ATP2B3 Protein Structure

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

ATP_Ca_trans_C

0
200
400
600
800
1000
1220 a.a.

Protein Preferred Names	Protein Names
plasma membrane calcium-transporting ATPase 3	ATPase, Ca++ transporting, plasma membrane 3

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia, X-Linked 1	X-Linked Progressive Cerebellar Ataxia SCAX1 Opcax X-Linked Spinocerebellar Ataxia 1 Olivopontocerebellar Atrophy, X-Linked Opca, X-Linked Olivopontocerebellar Atrophy X-Linked Opca X-Linked Ataxia, Spinocerebellar, X-Linked Type 1
Dental Caries	Dental Caries Extending Into Pulp Dental Caries Of Smooth Surface Dental Caries Pit And Fissure Smooth Surface Dental Caries Dental Decay Carious Teeth Dental Cavity Saprodontia Teeth Decayed Tooth Caries Tooth Decay
Spinocerebellar Ataxia, X-Linked 5	SCAX5 X-Linked Spinocerebellar Ataxia 5 X-Linked Non Progressive Cerebellar Ataxia
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Hypotonia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
X-Linked Cerebellar Ataxia
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Spinocerebellar Ataxia, X-Linked 3	Scax3 X-Linked Spinocerebellar Ataxia 3 X-Linked Ataxia-Deafness Syndrome X-Linked Spinocerebellar Ataxia Type 3 Ataxia-Deafness Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 3 Ataxia-Deafness Syndrome X-Linked X-Linked Ataxia-Hearing Loss Syndrome Spinocerebellar Ataxia, X-Linked, 3
Spinocerebellar Ataxia, X-Linked 4	Scax4 X-Linked Spinocerebellar Ataxia 4 X-Linked Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia Type 4 Ataxia-Dementia Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 4 Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia, X-Linked, 4
Spastic Ataxia	Spax Ataxia, Spastic
Spinocerebellar Ataxia, X-Linked 2	Scax2 X-Linked Spinocerebellar Ataxia 2 Cerebellar Ataxia With Extrapyramidal Involvement Early-Onset Cerebellar Ataxia With Extrapyramidal Involvement, Early-Onset Spinocerebellar Ataxia X-Linked Type 2
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Adrenal Carcinoma	Adrenal Cancer Adrenal Gland Cancer Malignant Neoplasm Of Adrenal Gland Adrenal Gland Neoplasms Carcinoma Of The Adrenal Gland Adrenal Neoplasm Malignant Adrenal Tumor Neoplasm Of Adrenal Gland Tumor Of The Adrenal Gland Adrenal Gland Neoplasm Adrenocortical Carcinoma Adrenal Gland Malignancy Suprarenal Cancer Malignant Neoplasm Of Suprarenal Gland Malignant Neoplasm Of Adrenal Gland, Unspecified Malignant Tumour Of Adrenal Gland Suprarenal Gland Cancer Primary Malignant Neoplasm Of Adrenal Gland
Meningococcal Meningitis	Meningitis, Meningococcal Meningitis Meningococcal Epidemic Meningitis Meningitis Due To Neisseria Meningitidis Meningococcal Meninges Infection Meningococcal Meningeal Infection Meningococcal Cerebrospinal Inflammation Chronic Meningococcal Arachnoiditis Meningococcal Arachnoiditis Diplococcal Spinal Meningitis Diplococcal Meningitis Meningococcal Cerebrospinal Fever Meningococcal Cerebrospinal Infection Meningococcal Spinal Meningitis
Hyperaldosteronism, Familial, Type I	Glucocorticoid-Remediable Aldosteronism Gra Familial Hyperaldosteronism Type 1 Hyperaldosteronism, Familial Type 1 HALD1 Fh I Glucocorticoid-Suppressible Hyperaldosteronism Gsh Acth-Dependent Hyperaldosteronism Syndrome Aldosteronism, Glucocorticoid-Remediable Dexamethasone Sensitive Hypertension Glucocorticoid Sensitive Hypertension Familial Hyperaldosteronism Type I Fh1 Aldosteronism, Sensitive To Dexamethasone Dexamethasone-Sensitive Hypertension Fh-I Glucocorticoid-Sensitive Hypertension Hyperaldosteronism, Familial, 1 Aldosteronism Sensitive To Dexamethasone Familial Hyperaldosteronism 1 Fh Type 1 Familial Aldosteronism Type I
Adrenal Adenoma	Adenoma Of The Adrenal Gland Adrenal Incidentaloma Adrenal Cortical Adenoma Adrenocortical Adenoma
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Star Syndrome Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome Syndactyly With Renal And Anogenital Malformations STAR Syndactyly, Telecanthus, Anogenital And Renal Malformations Toe Syndactyly, Telecanthus, Anogenital And Renal Malformations
Bone Epithelioid Hemangioma	Bone Hemangioma Hemangioma Of Bone Osseous Epithelioid Hemangioma Osseous Hemangioma
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
Acth-Independent Macronodular Adrenal Hyperplasia	Acth-Independent Macronodular Adrenocortical Hyperplasia Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia Corticotropin-Independent Macronodular Adrenal Hyperplasia Cushing Syndrome Due To Macronodular Adrenal Hyperplasia AIMAH1 Aimah Massive Macronodular Adrenocortical Disease Mmad Primary Macronodular Adrenal Hyperplasia Cushing Syndrome, Adrenal, Due To Aimah Primary Bilateral Macronodular Adrenal Hyperplasia Acth-Independent Macronodular Adrenal Hyperplasia 1 Acth-Independent Cushing Syndrome Adrenal Cushing Syndrome Due To Aimah Acth-Independent Macronodular Adrenal Hyperplasia 2
Primary Pigmented Nodular Adrenocortical Disease	Ppnad Primary Pigmented Nodular Adrenal Dysplasia Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 1
Schnyder Corneal Dystrophy	Schnyder Crystalline Corneal Dystrophy SCCD Corneal Dystrophy, Crystalline, Of Schnyder Corneal Dystrophy, Schnyder Type Corneal Dystrophy Crystalline Of Schnyder Crystalline Stromal Dystrophy Hereditary Crystalline Stromal Dystrophy Of Schnyder Scd Corneal Dystrophy, Schnyder Schnyder Crystalline Dystrophy Sine Crystals Dystrophy, Corneal, Crystalline, Schnyder
Breast Ductal Adenoma
Endocrine Organ Benign Neoplasm
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01196	ATP2B3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATP2B3	MGD	MGI:1347353
Canis familiaris	ATP2B3	VGNC	VGNC:38258
Macaca mulatta	ATP2B3	VGNC	VGNC:70182
Felis catus	ATP2B3	VGNC	VGNC:68638
Bos taurus	ATP2B3	VGNC	VGNC:26295
Rattus norvegicus	ATP2B3	RGD	RGD:621304
Others	ATP2B3	NCBI