Gene

scn1bb

ID
ZDB-GENE-090408-1
Name
sodium channel, voltage-gated, type I, beta b
Symbol
scn1bb Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Exhibits voltage-gated sodium channel activity. Involved in cell adhesion and sodium ion transport. Localizes to myelin sheath and neuronal cell body. Is expressed in nervous system; otic vesicle; and pronephros. Human ortholog(s) of this gene implicated in Brugada syndrome 5; early infantile epileptic encephalopathy 52; familial atrial fibrillation; and generalized epilepsy with febrile seizures plus 1. Orthologous to human SCN1B (sodium voltage-gated channel beta subunit 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Fein et al., 2008
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With scn1bb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Brugada syndrome 5 Alliance Brugada syndrome 5 612838
Brugada syndrome 5 Alliance Cardiac conduction defect, nonspecific 612838
developmental and epileptic encephalopathy 52 Alliance Developmental and epileptic encephalopathy 52 617350
familial atrial fibrillation Alliance Atrial fibrillation, familial, 13 615377
generalized epilepsy with febrile seizures plus 1 Alliance Generalized epilepsy with febrile seizures plus, type 1 604233
Associated With scn1bb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013106 Immunoglobulin V-set domain
Family IPR027098 Sodium channel subunit beta-1/beta-3
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
Domain Details Per Protein
Protein Length Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin V-set domain Sodium channel subunit beta-1/beta-3
UniProtKB:A0A0H2UKN7 204
UniProtKB:B3F0A3 222
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-scn1bb polyclonal Rabbit
  • IHC
  • WB
Open Biosystems
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations