ATP2B3 - ATPase plasma membrane Ca2+ transporting 3 Gene

Homo sapiens

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

Gene ID: 492 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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