Gene

scn4ab

ID
ZDB-GENE-051201-1
Name
sodium channel, voltage-gated, type IV, alpha, b
Symbol
scn4ab Nomenclature History
Previous Names
  • zscn5 (1)
  • Nav1.4b (1)
  • Nav1.4b (1)
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to enable voltage-gated sodium channel activity. Predicted to be involved in several processes, including membrane depolarization during action potential; neuronal action potential; and sodium ion transmembrane transport. Predicted to act upstream of or within monoatomic ion transmembrane transport and sodium ion transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in axon. Is expressed in several structures, including gill; heart; mesoderm; musculature system; and nervous system. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 16; congenital myopathy 22A; congenital myopathy 22B; hyperkalemic periodic paralysis; and paramyotonia congenita of Von Eulenburg. Orthologous to human SCN4A (sodium voltage-gated channel alpha subunit 4).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Patel et al., 2014
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa13421Allele with one point mutationUnknownPremature StopENU
sa13450Allele with one point mutationUnknownPremature StopENU
sa18126Allele with one point mutationUnknownSplice SiteENU
sa18528Allele with one point mutationUnknownPremature StopENU
sa25245Allele with one point mutationUnknownPremature StopENU
sa26050Allele with one point mutationUnknownPremature StopENU
sa33152Allele with one point mutationUnknownPremature StopENU
sa40056Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-scn4abN/APatel et al., 2014
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Human Disease
Associated With scn4ab Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myasthenic syndrome 16 Alliance Myasthenic syndrome, congenital, 16 614198
congenital myopathy 22A Alliance Congenital myopathy 22A, classic 620351
congenital myopathy 22B Alliance Congenital myopathy 22B, severe fetal 620369
hyperkalemic periodic paralysis Alliance Hyperkalemic periodic paralysis 170500
hypokalemic periodic paralysis Alliance Hypokalemic periodic paralysis, type 2 613345
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Associated With scn4ab Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005821 Ion transport domain
Domain IPR010526 Sodium ion transport-associated domain
Domain IPR044564 Voltage-gated sodium channel alpha subunit, inactivation gate
Family IPR001696 Voltage gated sodium channel, alpha subunit
Family IPR043203 Voltage-gated cation channel calcium and sodium
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Domain Details Per Protein
Protein Additional Resources Length Ion transport domain Sodium ion transport-associated domain Voltage-dependent channel domain superfamily Voltage-gated cation channel calcium and sodium Voltage gated sodium channel, alpha subunit Voltage-gated sodium channel alpha subunit, inactivation gate
UniProtKB:A0A2C9F1K3 InterPro 1835
UniProtKB:Q20JQ7 InterPro 1784
UniProtKB:A0AB32TKK4 InterPro 1835
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 3
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA scn4ab-201 (1) Ensembl 7,240 nt
mRNA scn4ab-202 (1) Ensembl 7,646 nt
mRNA scn4ab-203 (1) Ensembl 7,680 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-248K5ZFIN Curated Data
EncodescDNAMGC:195116ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanSCN4A17
Nucleotide sequence comparison (1)
Amino acid sequence comparison (2)
MouseScn4a11
Nucleotide sequence comparison (1)
Citations
1 - 10 of 15
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