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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
Location & Maps
more
  • Sequence Map
    Chr7:31116525-31126945 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10421 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, GEFSP1
  • Links
    NCBI Gene ID: 6324
    neXtProt AC: NX_Q07699

  • Chr Location
    19q13.1; chr19:35030688-35040449 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1   OMIM: 604233 View 1 model
       Atrial Fibrillation, Familial, 13; ATFB13   OMIM: 615377
Brugada Syndrome 5; BRGDA5   OMIM: 612838
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
    15 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Targeted
    5
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000019194 Ensembl Gene Model | MGI Sequence Detail 10421 C57BL/6J ±  kb
transcript ENSMUST00000098548 Ensembl | MGI Sequence Detail 1514 Not Applicable  
polypeptide ENSMUSP00000096148 Ensembl | MGI Sequence Detail 218 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    153 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000014522 sodium channel subunit beta-1
  • InterPro Domains
    IPR007110 Immunoglobulin-like domain
    IPR013783 Immunoglobulin-like fold
    IPR013106 Immunoglobulin V-set domain
    IPR027098 Sodium channel subunit beta-1/beta-3
Molecular
Reagents
less
  • All nucleic 30
    Genomic 2
    cDNA 25
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-14320
References
more
  • Summaries
    All 50
    Developmental Gene Expression 8
    Diseases 1
    Gene Ontology 9
    Phenotypes 15
  • 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:234186 Kruger LC, et al., beta1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. J Neurosci. 2016 Jun 8;36(23):6213-24

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory