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FLASH GENE

Symbol

SCN2B

contributors: mct/ - updated : 13-09-2023

HGNC name	sodium channel, voltage-gated, type II, beta
HGNC id	10589

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Nervous brain         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal large extracellular domain containing a Ig-V type fold with a disulfide bond and four N-linked glycosylation sites
	a single transmembrane segment
	a short intracytoplasmic C terminal tail

HOMOLOGY

interspecies

homolog to rattus contactin (with human auxilliary subunit beta)

intraspecies

homolog to myelin protein zero, highly

Homologene

FAMILY

sodium channel auxiliary subunit SCN2B family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	sodium channel, voltage-gated, type II,involved in the initiation and conduction of electrical impulses in nerves
	could play an important role in the aging-related cognitive deterioration
	associates with lipid rafts by S-palmitoylation
	involved in maintaining normal physiological functions of the prefrontal cortex and hippocampus, might be associated with prefrontal cortex aging and memory decline
	plays crucial roles in the repair of neuronal injury induced by Abeta1-42

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

protein constituent of membrane

INTERACTION

DNA

RNA

small molecule

protein

N-linked glycosylation of SCNB2 is required for surface localization of SCN5A, a property that is often defective in inherited cardiac arrhythmias

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATFB14

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   age-down regulated in the frontal cortex

Susceptibility

to atrial fibrillation to idiopathic epilepsy

Variant & Polymorphism SNP	R28Q, R28W associated with atrial fibrillation (Watanabe 2009)
	rs602594 associated with idiopathic epilepsy

Candidate gene	for Brugada syndrome
Marker
Therapy target

ANIMAL & CELL MODELS

deletion of Scn2b in mice results in ventricular and atrial arrhythmias, consistent with reported SCN2B mutations in human patients