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SCN2A sodium voltage-gated channel alpha subunit 2 [ Homo sapiens (human) ]

Gene ID: 6326, updated on 28-Nov-2021

Summary

Official Symbol
SCN2Aprovided by HGNC
Official Full Name
sodium voltage-gated channel alpha subunit 2provided by HGNC
Primary source
HGNC:HGNC:10588
See related
Ensembl:ENSG00000136531 MIM:182390
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EA9; HBA; NAC2; BFIC3; BFIS3; BFNIS; DEE11; HBSCI; EIEE11; HBSCII; Nav1.2; SCN2A1; SCN2A2; Na(v)1.2
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]
Expression
Biased expression in brain (RPKM 20.5) and kidney (RPKM 1.1) See more
Orthologs
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Genomic context

See SCN2A in Genome Data Viewer
Location:
2q24.3
Exon count:
31
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (165239414..165392304)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166095924..166248814)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 111 Neighboring gene solute carrier family 38 member 11 Neighboring gene sodium voltage-gated channel alpha subunit 3 Neighboring gene Sharpr-MPRA regulatory region 13511 Neighboring gene MAPRE1 pseudogene 3 Neighboring gene cysteine and serine rich nuclear protein 3 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants associated with general and MMR vaccine-related febrile seizures.
GeneReviews: Not available
Early infantile epileptic encephalopathy 11
MedGen: C3150987 OMIM: 613721 GeneReviews: Not available
Compare labs
Episodic ataxia type 9
MedGen: C5394520 OMIM: 618924 GeneReviews: Not available
Compare labs
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available
SCN2A-related generalized epilepsy with febrile seizures plus
MedGen: CN120574 GeneReviews: Not available
Compare labs
Seizures, benign familial infantile, 3
MedGen: C1843140 OMIM: 607745 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-04-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
enables voltage-gated sodium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables voltage-gated sodium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables voltage-gated sodium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in cellular response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to osmotic stress ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in membrane depolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuronal action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sodium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in T-tubule IEA
Inferred from Electronic Annotation
more info
 
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axon TAS
Traceable Author Statement
more info
PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in intercalated disc IEA
Inferred from Electronic Annotation
more info
 
located_in intrinsic component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in node of Ranvier ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in paranode region of axon IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of sodium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of voltage-gated sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sodium channel protein type 2 subunit alpha
Names
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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008143.1 RefSeqGene

    Range
    5013..157903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040142.2NP_001035232.1  sodium channel protein type 2 subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_001035232.1

    Status: REVIEWED

    Source sequence(s)
    AC011303, BP199510, BP311214, BU729783, DA232976, M94055
    Consensus CDS
    CCDS33314.1
    UniProtKB/Swiss-Prot
    Q99250
    Related
    ENSP00000364586.2, ENST00000375437.7
    Conserved Domains (5) summary
    cd13433
    Location:14741526
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12071482
    Ion_trans; Ion transport protein
    pfam06512
    Location:9971203
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:514709
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17981845
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. NM_001040143.2NP_001035233.1  sodium channel protein type 2 subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_001035233.1

    Status: REVIEWED

    Source sequence(s)
    AC011303, AC013438
    Consensus CDS
    CCDS33313.1
    UniProtKB/Swiss-Prot
    Q99250
    Related
    ENSP00000490107.1, ENST00000636071.2
    Conserved Domains (5) summary
    cd13433
    Location:14741526
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12071482
    Ion_trans; Ion transport protein
    pfam06512
    Location:9971203
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:514709
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17981845
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. NM_001371246.1NP_001358175.1  sodium channel protein type 2 subunit alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC011303, AC013438
    Related
    ENSP00000486885.1, ENST00000631182.3
    Conserved Domains (5) summary
    cd13433
    Location:14741526
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12071482
    Ion_trans; Ion transport protein
    pfam06512
    Location:9971203
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:514709
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17981845
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  4. NM_001371247.1NP_001358176.1  sodium channel protein type 2 subunit alpha isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011303, AC013438
    Related
    ENSP00000490866.1, ENST00000637266.2
    Conserved Domains (5) summary
    cd13433
    Location:14741526
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12071482
    Ion_trans; Ion transport protein
    pfam06512
    Location:9971203
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:514709
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17981845
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  5. NM_021007.3NP_066287.2  sodium channel protein type 2 subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_066287.2

    Status: REVIEWED

    Source sequence(s)
    AC011303
    Consensus CDS
    CCDS33314.1
    UniProtKB/Swiss-Prot
    Q99250
    Related
    ENSP00000283256.6, ENST00000283256.10
    Conserved Domains (5) summary
    cd13433
    Location:14741526
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12071482
    Ion_trans; Ion transport protein
    pfam06512
    Location:9971203
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:514709
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17981845
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    165239414..165392304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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