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Scn1b Gene Detail
Summary
  • Symbol
    Scn1b
  • Name
    sodium channel, voltage-gated, type I, beta
  • Feature Type
    protein coding gene
  • IDs
    MGI:98247
    NCBI Gene: 20266
  • Gene Overview
    MyGene.info: SCN1B
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:31116524-31127003 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10480 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 19.30 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    SCN1B, sodium voltage-gated channel beta subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SCN1B, sodium voltage-gated channel beta subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATFB13, BRGDA5, EIEE52, GEFSP1
  • Links
    NCBI Gene ID: 6324
    neXtProt AC: NX_Q07699
    UniProt: Q07699

  • Chr Location
    19q13.11; chr19:35030688-35040449 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Scn1b mouse models; 3 with human SCN1B associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 4 alleles in 2 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous inactivation of this locus results in defects in neuronal excitability, and nodal architecture. Homozygous null mice are growth retarded, exhibit spontaneous generalized seizuress, and die prior to weaning.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000045672 VEGA Gene Model | MGI Sequence Detail 10480 C57BL/6J ±  kb
    transcript OTTMUST00000119568 VEGA | MGI Sequence Detail 1501 Not Applicable  
    polypeptide OTTMUSP00000066475 VEGA | MGI Sequence Detail 218 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      153 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      Genomic 2
      cDNA 26
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14320
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 11
      Phenotypes 17
    • Earliest
      J:15251 Tong J, et al., A single B1 subunit mapped to mouse chromosome 7 may be a common component of Na channel isoforms from brain, skeletal muscle and heart. Biochem Biophys Res Commun. 1993 Sep 15;195(2):679-85
    • Latest
      J:264801 Chen C, et al., Mapt deletion fails to rescue premature lethality in two models of sodium channel epilepsy. Ann Clin Transl Neurol. 2018 Aug;5(8):982-987

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/16/2018
    MGI 6.12
    The Jackson Laboratory