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. 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. Is expressed in nervous system; otic vesicle; and pronephros. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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:B3F0A3 InterPro	222

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-scn1bb	polyclonal	scn1bb		Rabbit	IHC WB	Open Biosystems	2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations