SCN2A - sodium voltage-gated channel alpha subunit 2 Gene

Also Known as EA9; HBA; NAC2; BFIC3; BFIS3; BFNIS; DEE11; HBSCI; EIEE11; HBSCII; Nav1.2; SCN2A1; SCN2A2; Na(v)1.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6326

About SCN2A

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:165,239,414-165,392,304 (from NCBI)

This gene has 20 transcripts (splice variants), 130 orthologues, 26 paralogues and is associated with 12 phenotypes. Biased expression in brain (RPKM 20.5) and kidney (RPKM 1.1).

Summary

Voltage-gated sodium channels are Transmembrane Glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the Sodium Channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

SCN2A Products (5)

mRNA	Protein	Name
NM_001040142.2	NP_001035232.1	sodium channel protein type 2 subunit alpha isoform 1
NM_001371246.1	NP_001358175.1	sodium channel protein type 2 subunit alpha isoform 2
NM_021007.3	NP_066287.2	sodium channel protein type 2 subunit alpha isoform 1
NM_001371247.1	NP_001358176.1	sodium channel protein type 2 subunit alpha isoform 1
NM_001040143.2	NP_001035233.1	sodium channel protein type 2 subunit alpha isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calmodulin binding	IMP IMP: Inferred from mutant phenotype	25232683	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25232683	GOA
enables voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	1325650	GOA
enables voltage-gated sodium channel activity	IMP IMP: Inferred from mutant phenotype	17021166	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in neuronal action potential	IMP IMP: Inferred from mutant phenotype	17021166	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in plasma membrane	IDA IDA: Inferred from direct assay	1325650	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

SCN2A Protein Structure

Ion_trans

Na_trans_cytopl

Ion_trans

Na_trans_assoc

Ion_trans

0
400
800
1200
1600
2005 a.a.

Protein Preferred Names	Protein Names
sodium channel protein type 2 subunit alpha	sodium channel protein brain II subunit alpha sodium channel protein type II subunit alpha sodium channel protein, brain type 2 alpha subunit sodium channel, voltage-gated, type II, alpha 1 polypeptide sodium channel, voltage-gated, type II, alpha 2 polypeptide sodium channel, voltage-gated, type II, alpha subunit voltage-gated sodium channel subtype II voltage-gated sodium channel subunit alpha Nav1.2 voltage-gated sodium channel type II alpha subunit

SCN2A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SCN2A	Q99250	ELAVL3	Homo sapiens	Q14576	Anti Bait CoIP	36950384

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Hereditary Episodic Ataxia
Infancy Electroclinical Syndrome
Paroxysmal Extreme Pain Disorder	PEPD Familial Rectal Pain Pexpd Submandibular, Ocular, And Rectal Pain With Flushing Pain, Submandibular, Ocular, And Rectal, With Flushing Rectal Pain, Familial Submandibular, Ocular And Rectal Pain With Flushing Familial Rectal Syndrome Frp Pain Disorder, Paroxysmal, Extreme
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Reflex Epilepsy	Epilepsy, Reflex Epilepsy, Sensory-Induced Epilepsy Reflex
Neonatal Period Electroclinical Syndrome
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Developmental And Epileptic Encephalopathy 13	Epileptic Encephalopathy, Early Infantile, 13 DEE13 Eiee13 Developmental And Epileptic Encephalopathy, 13 Early Infantile Epileptic Encephalopathy 13 Scn8a Encephalopathy Early Infantile Epileptic Encephalopathy-13 Scn8a Epilepsy Encephalopathy, Developmental And Epileptic, Type 13
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
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
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Histiocytosis-Lymphadenopathy Plus Syndrome	H Syndrome Histiocytosis With Joint Contractures And Sensorineural Deafness Faisalabad Histiocytosis Shml Hjcd Rosai-Dorfman Disease Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Phid Sinus Histiocytosis And Massive Lymphadenopathy Familial Rosai-Dorfman Disease Slc29a3 Spectrum Disorder Sinus Histiocytosis With Massive Lymphadenopathy Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Rosai-Dorfman Disease, Familial Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness Rdd Rosaï-Dorfman Disease Slc29a3 Disorder Destombes-Rosai-Dorfman Disease Rosai-Dorfman-Destombes Disease HLAS Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness H Disease Sinus Histiocytosis
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Febrile Seizures, Familial, 3a GEFSP2 GEFS+2 Generalized Epilepsy With Febrile Seizures Plus 2 Gefs+, Type 2 Generalised Epilepsy With Febrile Seizures Plus 2 Generalised Epilepsy With Febrile Seizures Plus Type 2 Generalized Epilepsy With Febrile Seizures Plus Type 2 FEB3A Familial Febrile Convulsions 3 Gefs+ Type 2 Epilepsy, Generalized, With Febrile Seizures Plus, Type 2 Febrile Convulsions, Familial, 3a
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Scrapie
Benign Neonatal Seizures	Benign Neonatal Epilepsy Benign Familial Neonatal Seizures Benign Neonatal Convulsions Benign Familial Neonatal Convulsions Benign Familial Neonatal Epilepsy Bfne Bfns Seizures, Benign Neonatal Neonatal Convulsions Benign Epilepsy, Benign Neonatal Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion Familial Benign Neonatal Epilepsy
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Schuurs-Hoeijmakers Syndrome	SHMS Pacs1-Related Syndrome Mrd17 Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome Intellectual Developmental Disorder, Autosomal Dominant 17 Autosomal Dominant Intellectual Disability-17 Autosomal Dominant Mental Retardation 17 Pacs1 Syndrome Mental Retardation, Autosomal Dominant 17
Hemoglobin E Disease	Hb-E Disease Hemoglobin E
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Ohtahara Syndrome
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
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
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
Movement Disease	Movement Disorders Movement Disorder
Early Onset Absence Epilepsy
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
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 Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Thalassemia Minor
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Kuru	Kuru, Susceptibility To Kuru Encephalopathy Kuru Encephalitis Kuru Disease
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Episodic Kinesigenic Dyskinesia 1	Paroxysmal Kinesigenic Choreoathetosis Paroxysmal Kinesigenic Dyskinesia Dystonia 10 Familial Paroxysmal Kinesigenic Dyskinesia Episodic Kinesigenic Dyskinesia EKD1 Pkc Pkd Dyt10 Familial Pkd Paroxysmal Kinesigenic Choreathetosis Familial Paroxysmal Dystonia Dystonia, Familial Paroxysmal Dyt-Prrt2 Dystonia, Type 10
Partial Motor Epilepsy	Epilepsy, Partial, Motor Epilepsy, Focal Motor Focal Motor Seizure
Childhood Electroclinical Syndrome
Hyperkalemic Periodic Paralysis	HYPP Gamstorp Disease Gamstorp Episodic Adynamy Adynamia Episodica Hereditaria With Or Without Myotonia Familial Hyperkalemic Periodic Paralysis Hyperkpp Hyperpp Adynamia Episodica Hereditaria Primary Hyperkalemic Periodic Paralysis Hyperkalemic Periodic Paralysis, Type 2 Sodium Channel Muscle Disease Familial Hyperpp Hyperkalemic Pp Primary Hyperpp Periodic Paralysis Hyperkalemic Periodic Paralysis Normokalemic NKPP Periodic Paralysis Eukalemic Paralysis, Hyperkalemic Periodic Paralysis, Periodic, Hyperkalemic Potassium Aggravated Myotonia
Febrile Seizures	Febrile Seizure Febrile Convulsions Seizures Febrile
Type 1 Diabetes Mellitus 20	Diabetes Mellitus, Insulin-Dependent, 20 IDDM20 T1D20 Insulin-Dependent Diabetes Mellitus 20 Diabetes Mellitus, Insulin-Dependent, Type 20
Seizures, Benign Familial Infantile, 3	Bfnis Benign Familial Neonatal-Infantile Seizures BFIS3 Bfic3 Seizures, Benign Familial Neonatal-Infantile Convulsions, Benign Familial Infantile, 3 Benign Familial Infantile Seizures 3 Benign Familial Infantile Seizures, 3 Benign Familial Infantile Convulsions Convulsions Benign Familial Neonatal Epilepsy, Benign Neonatal-Infantile Benign Neonatal-Infantile Epilepsy Benign Familial Infantile Convulsions 3 Benign Familial Neonatal-Infantile Epilepsy Familial Benign Neonatal Epilepsy
Developmental And Epileptic Encephalopathy 21	DEE21 Epileptic Encephalopathy, Early Infantile, 21 Eiee21 Developmental And Epileptic Encephalopathy, 21 Early Infantile Epileptic Encephalopathy 21 Encephalopathy, Epileptic, Early Infantile, Type 21
Episodic Ataxia, Type 9	EA9 Episodic Ataxia 9
Lennox-Gastaut Syndrome	Epileptic Encephalopathy Lennox-Gastaut Type Lennox Syndrome Encephalopathy Of Childhood Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Hemoglobin C Disease	Hb C Disease Hb-C Disease Hemoglobin C
Spastic Ataxia	Spax Ataxia, Spastic
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	CLIFAHDD Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome Clifahdd Syndrome Doid:0081048 Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
Scn2a Related Disorders	Scn2a-Related Disorder Scn2a-Related Disorders
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Seizures, Benign Familial Infantile, 1	BFIS1 Convulsions, Benign Familial Infantile, 1 Bfic1 Benign Infantile Familial Convulsions Benign Familial Infantile Seizures 1 Benign Familial Infantile Seizures, 1 Benign Familial Infantile Epilepsy Bfic Benign Familial Infantile Convulsions Syndrome Familial Benign Neonatal Epilepsy
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Landau-Kleffner Syndrome	Acquired Epileptic Aphasia Lks Acquired Aphasia With Convulsive Disorder Acquired Epileptiform Aphasia Landau Kleffner Syndrome Childhood Epileptic Aphasia
Benign Epilepsy With Centrotemporal Spikes	Benign Rolandic Epilepsy 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
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Suppression Bursts Early Infantile Epileptic Encephalopathy With Burst-Suppression Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Adolescence-Adult Electroclinical Syndrome
Erythromelalgia	Primary Erythromelalgia Erythermalgia Primary Erythermalgia Mitchell Disease Familial Erythromelalgia
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Creutzfeldt-Jakob Disease	Variant Creutzfeldt-Jakob Disease CJD Bovine Spongiform Encephalopathy Vcjd Inherited Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Familial Creutzfeldt Jakob Disease Creutzfeldt-Jacob Disease Creutzfeldt Jacob Disease Sporadic Creutzfeldt-Jakob Disease Encephalopathy, Bovine Spongiform Creutzfeldt-Jakob Disease, Variant, Resistance To Creutzfeldt-Jakob Disease, Variant Creutzfeldt Jacob Syndrome Jakob-Creutzfeldt Disease Subacute Spongiform Encephalopathy Transmissible Virus Dementia New Variant Of Cjd Nv-Cjd Variant Cjd Variant Creutzfeldt-Jacob Disease Sporadic Cjd Inherited Cjd Acquired Creutzfeldt-Jakob Disease Variant Mcj Encephalopathy Bovine Spongiform Familial Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Syndrome New Variant Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Sporadic Acquired Cjd Scjd - [Sporadic Creutzfeldt-Jakob Disease] Idiopathic Creutzfeldt-Jakob Disease Creutzfeld-Jakob Disease Nos Vcjd - [Variant Creutzfeldt-Jakob Disease]
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Rett Syndrome	Atypical Rett Syndrome RTT Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Atypical Rett Syndrome, Preserved Speech Variant Rett'S Disorder Rett Syndrome Variant Rett Disorder Cerebroatrophic Hyperammonemia Rett Like Syndrome Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Developmental And Epileptic Encephalopathy 14	Malignant Migrating Partial Seizures Of Infancy Eiee14 Epilepsy Of Infancy With Migrating Focal Seizures Mmpsi DEE14 Epileptic Encephalopathy, Early Infantile, 14 Early Infantile Epileptic Encephalopathy 14 Malignant Migrating Partial Epilepsy Of Infancy Migrating Partial Epilepsy Of Infancy Migrating Partial Seizures Of Infancy Mmpei Mpei Mpsi Malignant Migrating Focal Seizures Of Infancy Migrating Partial Seizures In Infancy Developmental And Epileptic Encephalopathy, 14 Encephalopathy, Epileptic, Early Infantile, Type 14
Developmental And Epileptic Encephalopathy 60	DEE60 Epileptic Encephalopathy, Early Infantile, 60 Eiee60 Developmental And Epileptic Encephalopathy, 60 Early Infantile Epileptic Encephalopathy 60
Chronic Wasting Disease	Wasting Disease, Chronic
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Specific Developmental Disorder
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
Migraine, Familial Hemiplegic, 3	FHM3 Familial Hemiplegic Migraine 3 Mhp3 Migraine, Hemiplegic, Familial, Type 3
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Developmental And Epileptic Encephalopathy 43	DEE43 Epileptic Encephalopathy, Early Infantile, 43 Eiee43 Developmental And Epileptic Encephalopathy, 43 Early Infantile Epileptic Encephalopathy 43
Hemoglobin D Disease	Hb-D Disease Punjab Disease Los Angeles Disease Hb D Los Angeles Disease Hb D Punjab Disease
Hemoglobinopathy	Hemoglobinopathies
Developmental And Epileptic Encephalopathy 2	Epileptic Encephalopathy, Early Infantile, 2 DEE2 Eiee2 Issx2 Developmental And Epileptic Encephalopathy, 2 Infantile Spasm Syndrome, X-Linked 2 Early Infantile Epileptic Encephalopathy 2 X-Linked Infantile Spasm Syndrome 2 Atypical Rett Syndrome Cdkl5-Related Atypical Rett Syndrome Hanefeld Variant Infantile Spasm Syndrome X-Linked 2 Rett Syndrome Early-Onset Seizure Variant Rett Syndrome Variant With Infantile Spasms Encephalopathy, Epileptic, Early Infantile, Type 2
Paramyotonia Congenita Of Von Eulenburg	Paramyotonia Congenita PMC Paralysis Periodica Paramyotonica Eulenburg Disease Myotonia Congenita Intermittens Von Eulenburg Paramyotonia Congenita Paralysis Periodica Paramyotonia Von Eulenberg'S Disease Paramyotonia Congenita Without Cold Paralysis Eulenburg Syndrome Paramyotonia
Epilepsy With Generalized Tonic-Clonic Seizures	Tonic-Clonic Epilepsy Epileptic Seizures, Tonic-Clonic Grand Mal Epilepsy Epilepsy, Tonic-Clonic
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
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]
Developmental And Epileptic Encephalopathy 7	Epileptic Encephalopathy, Early Infantile, 7 DEE7 Eiee7 Kcnq2-Related Epileptic Encephalopathy Kcnq2-Related Neonatal Epileptic Encephalopathy Developmental And Epileptic Encephalopathy, 7 Early Infantile Epileptic Encephalopathy 7 Kcnq2-Nee Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile, Type 7 Early Infantile Epileptic Encephalopathy With Suppression Bursts
Trigeminal Nerve Disease	Trigeminal Nerve Diseases Disorders Of 5th Cranial Nerve Disorders Of The Fifth Cranial Nerve
Hemoglobin H Disease	HBH Hemoglobin H Disease, Nondeletional Hemoglobin H Disease, Deletional Alpha-Thalassemia Intermedia Haemoglobin H Disease Alpha-Thalassemia, Hemoglobin H Type Hemoglobin H Disease, Deletional And Nondeletional Alpha Thalassemia, Haemoglobin H Type Alpha Thalassemia, Hemoglobin H Type Haemoglobin H Disease, Deletional Hbh Disease Alpha-Thalassemia Hemoglobin H Type Hemoglobin H Disease Deletional Hemoglobin H Disease Non-Deletional Alpha-Thalassemia Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia Alpha Thalassaemia Intermedia
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
Episodic Ataxia, Type 8	Episodic Ataxia Type 8 EA8 Episodic Ataxia With Slurred Speech
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
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Smei Severe Myoclonic Epilepsy In Infancy Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 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 Developmental And Epileptic Encephalopathy, 6 Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150514	ARN1468	Inhibitor	98.96%	Unkown
HY-W081348	1-(4-Methoxyphenyl)-3-methyl-1H-pyrazol-5(4H)-one	Inhibitor	99.54%	Unkown
HY-107662	TCS PrP Inhibitor 13	Inducer	99.72%	Unkown
HY-RS12529	SCN2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12530	Scn2a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12531	Scn2a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12535	Scn3a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12550	Scn9a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SCN2A	MGD	MGI:98248
Macaca mulatta	SCN2A	VGNC	VGNC:99402
Rattus norvegicus	SCN2A	RGD	RGD:3632
Bos taurus	SCN2A	VGNC	VGNC:34347
Canis familiaris	SCN2A	VGNC	VGNC:53105
Felis catus	SCN2A	VGNC	VGNC:80350