ATP1A2 - ATPase Na+/K+ transporting subunit alpha 2 Gene

Also Known as FHM2; MHP2; DEE98; FARIMPD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 477

About ATP1A2

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,115,759-160,143,591 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues, 21 paralogues and is associated with 8 phenotypes. Biased expression in brain (RPKM 189.3), heart (RPKM 37.1) and 3 other tissues.

Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]

ATP1A2 Products (1)

mRNA	Protein	Name
NM_000702.4	NP_000693.1	sodium/potassium-transporting ATPase subunit alpha-2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IMP IMP: Inferred from mutant phenotype	23954377	GOA
enables ATP hydrolysis activity	IMP IMP: Inferred from mutant phenotype	23954377	GOA
enables ATPase-coupled monoatomic cation transmembrane transporter activity	IDA IDA: Inferred from direct assay	19372756	GOA
enables ATPase-coupled monoatomic cation transmembrane transporter activity	IGI IGI: Inferred from genetic interaction	20100892	GOA
enables P-type sodium:potassium-exchanging transporter activity	IDA IDA: Inferred from direct assay	10636900	GOA
enables P-type sodium:potassium-exchanging transporter activity	IGI IGI: Inferred from genetic interaction	18052210	GOA
enables P-type sodium:potassium-exchanging transporter activity	IMP IMP: Inferred from mutant phenotype	12539047	GOA
enables potassium ion binding	IMP IMP: Inferred from mutant phenotype	23954377	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23954377	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	10636900	GOA
enables sodium ion binding	IMP IMP: Inferred from mutant phenotype	23954377	GOA
enables steroid binding	IPI IPI: Inferred from physical interaction	23954377	GOA
enables steroid hormone binding	IDA IDA: Inferred from direct assay	14742675	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ATP metabolic process	IMP IMP: Inferred from mutant phenotype	23954377	GOA
involved in cellular response to steroid hormone stimulus	IDA IDA: Inferred from direct assay	14742675	GOA
involved in intracellular potassium ion homeostasis	IDA IDA: Inferred from direct assay	10636900	GOA
involved in intracellular sodium ion homeostasis	IDA IDA: Inferred from direct assay	10636900	GOA
involved in monoatomic cation transmembrane transport	IDA IDA: Inferred from direct assay	19372756	GOA
involved in monoatomic cation transmembrane transport	IGI IGI: Inferred from genetic interaction	20100892	GOA
involved in potassium ion import across plasma membrane	IDA IDA: Inferred from direct assay	10636900	GOA
involved in potassium ion transmembrane transport	IGI IGI: Inferred from genetic interaction	18728015	GOA
involved in sodium ion export across plasma membrane	IDA IDA: Inferred from direct assay	10636900	GOA
involved in sodium ion transmembrane transport	IGI IGI: Inferred from genetic interaction	18728015	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in T-tubule	IGI IGI: Inferred from genetic interaction	19751721	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12539047	GOA
located in membrane	IDA IDA: Inferred from direct assay	23954377	GOA
located in organelle membrane	IGI IGI: Inferred from genetic interaction	19751721	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12539047	GOA
located in plasma membrane	IGI IGI: Inferred from genetic interaction	19372756	GOA
part of sodium:potassium-exchanging ATPase complex	IDA IDA: Inferred from direct assay	10636900	GOA
part of sodium:potassium-exchanging ATPase complex	IGI IGI: Inferred from genetic interaction	18052210	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

ATP1A2 Protein Structure

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

0
200
400
600
800
1020 a.a.

Protein Preferred Names	Protein Names
sodium/potassium-transporting ATPase subunit alpha-2	ATPase Na+/K+ transporting alpha 2 polypeptide

ATP1A2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83189	ATP1A2 Antibody (YA2934)	WB	Human, Mouse, Rat
HY-P85863	Sodium Potassium ATPase Antibody (YA5555)	IHC-P, ICC/IF, ELISA	Human, Mouse, Rat
HY-P86104	Sodium Potassium ATPase Antibody (YA5796)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Migraine, Familial Hemiplegic, 2	FHM2 Mhp2 Migraine, Familial Basilar Familial Hemiplegic Migraine 2 Familial Hemiplegic Migraine-2 Familiar Basilar Migraine Migraine, Hemiplegic, Familial, Type 2
Alternating Hemiplegia Of Childhood 1	AHC1 Hemiplegia, Alternating, Of Childhood, Type 1
Developmental And Epileptic Encephalopathy 98	DEE98
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	FARIMPD
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Polymicrogyria	Pmg
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Familial Or Sporadic Hemiplegic Migraine
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Spastic Ataxia	Spax Ataxia, Spastic
Hemiplegia	Infantile Hemiplegia Postnatal Infantile Hemiplegia Hemiplegia, Infantile
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Migraine With Brainstem Aura	Basilar Migraine Basilar-Type Migraine Basilar Artery Migraine Bickerstaff Migraine Brainstem Migraine Mba Vertebrobasilar Migraine Basilar Artery Migraines
Migraine Without Aura	Common Migraine Migraine With Or Without Aura, Susceptibility To Migraine Without Aura, Susceptibility To Acute Migraine Without Aura
Neuronal Migration Disorders	Abnormality Of Neuronal Migration Malformations Of Cortical Development, Group Ii Neuronal Dysmigration Syndromes
Migraine, Familial Hemiplegic, 3	FHM3 Familial Hemiplegic Migraine 3 Mhp3 Migraine, Hemiplegic, Familial, Type 3
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Migraine, Familial Hemiplegic, 1	FHM1 Mhp1 Fhm Familial Hemiplegic Migraine 1 Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia Migraine, Hemiplegic, Familial, Type 1 Hemiplegic Migraine, Familial Type 1
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]
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Quadriplegia	Tetraplegia Tetraplegias
Episodic Ataxia, Type 5	Episodic Ataxia Type 5 EA5 Episodic Ataxia 5 Ea-5 Ataxia, Episodic, Type 5
Headache	Headache Disorder
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
Episodic Ataxia, Type 2	Episodic Ataxia Type 2 EA2 Apca Capa Cerebellopathy, Hereditary Paroxysmal Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive Episodic Ataxia With Nystagmus Ataxia, Episodic, With Nystagmus Episodic Ataxia, Nystagmus-Associated Ataxia, Familial Paroxysmal Acetazolamide-Responsive Episodic Ataxia Syndrome Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia Ataxia, Familial, Paroxysmal Nystagmus-Associated Episodic Ataxia Familial Paroxysmal Ataxia Episodic Ataxia 2 Ea-2 Episodic Ataxia Nystagmus-Associated Hereditary Paroxysmal Cerebellopathy Ataxia, Episodic, Type 2
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Hypomagnesemia 2, Renal	Renal Hypomagnesemia 2 HOMG2 Magnesium Wasting, Renal Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria Magnesium Loss, Isolated Renal Isolated Autosomal Dominant Hypomagnesemia Isolated Renal Magnesium Wasting Renal Hypomagnesemia Type 2 Hypomagnesemia 2 Dominant Renal Hypomagnesemia Hypomagnesemia With Hypocalciuria Isolated Renal Magnesium Loss Renal Magnesium Wasting Hypomagnesemia-2, Renal Renal Hypomagnesemia, Dominant Hypomagnesemia, Type 2, Renal
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Brain Small Vessel Disease 1	Col4a1-Related Brain Small Vessel Disease With Hemorrhage Col4a1-Related Familial Vascular Leukoencephalopathy Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy Brain Small Vessel Disease With Axenfeld-Riegar Anomaly Brain Small Vessel Disease With Hemorrhage Brain Small Vessel Disease With Or Without Ocular Anomalies Bsvd1 Infantile Hemiparesis Leukoencephalopathy With Axenfeld-Riegar Anomaly
Warburg Micro Syndrome 1	Warburg Micro Syndrome Micro Syndrome Warbm WARBM1 Warburg Sjo Fledelius Syndrome Warburg-Sjo-Fledelius Syndrome Micro Syndrome 1 Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	CADASIL2 Cadasil 2 Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2 Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease Htra1-Related Autosomal Dominant Cerebral Angiopathy Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2 Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
Infancy Electroclinical Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Retinal Arteries, Tortuosity Of	Retinal Arterial Tortuosity Retinal Hemorrhage With Vascular Tortuosity RATOR Tortuosity Of Retinal Arteries Retinal Arteriolar Tortuosity Familial Isolated Retinal Arterial Tortuosity Tortuosity, Arteries, Retinal
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations Crv Rvcl Rvcl-S Vasculopathy, Retinal, With Cerebral Leukodystrophy Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena Retinal Vasculopathy With Cerebral Leukodystrophy Retinal Vasculopathy And Cerebral Leukoencephalopathy Hereditary Vascular Retinopathy Hvr RVCLS Cerebroretinal Vasculopathy, Hereditary Cerebroretinal Vasculopathy Herns Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly Hereditary Cerebroretinal Vasculopathy Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke Hereditary Systemic Angiopathy Hsa Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations Adrvcl Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01183	ATP1A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01187	ATP1B2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21822	Atp1a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21823	Atp1b2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28339	Atp1a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATP1A2	MGD	MGI:88106
Bos taurus	ATP1A2	VGNC	VGNC:53849
Rattus norvegicus	ATP1A2	RGD	RGD:2168
Others	ATP1A2	NCBI