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FLASH GENE

Symbol

SCN3B

contributors: mct - updated : 15-09-2010

HGNC name	sodium channel, voltage-gated, type III, beta
HGNC id	20665

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATFB12 atrial fibrillation, familial, 12 BRGS7 Brugada syndrome 7
Location	11q24.1      Physical location : 123.499.894 - 123.525.315
Synonym name	voltage-gated sodium channel auxiliary beta-3 subunit
Synonym symbol(s)	HSA243396, SCNB3, KIAA1158, Na(v)beta3

DNA

TYPE	functioning gene
STRUCTURE	25.42 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
text structure	two putative p53-binding sites upstream of the first exon (RE1) and in the third intron (RE2)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001040151 7 - 5682 NP_001035241 24.7 215 - Mehrle (2006) NM_018400 6 - 6081 NP_060870 24.7 215 - Mehrle (2006)

EXPRESSION

Type	restricted

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 atrium     highly Endocrine pancreas         Nervous brain forebrain     highly   brain diencephalon amygdala     Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum cardiac   highly Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eye, brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one immunoglobulin-like C2 type domain

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

immunoglobulin superfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	modulating channel gating kinetics, and causing unique persistent sodium currents
	mediating a Tp53-dependent apoptotic pathway
	temporal lobe epilepsy-regulated gene

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

association with neurofascin may target the sodium channels to the nodes of ranvier of developing axons and retain these channels at the nodes in mature myelinated axons

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BRGS7 , ATFB12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in human cancer cell lines by DNA damaging agents, as well as by overexpression of Tp53 constitutional     --other   altered expression might influence microcircuitry in the hippocampus, affecting excitability and contributing to epileptogenesis in non-hippocampal sclerosis patients (van Gassen 2009)

Susceptibility

to atrial fibrillation

Variant & Polymorphism other	A130V mutant SCN3B negated the function of wild type SCN3B, suggesting that A130V acts by a dominant negative mechanism in atrial fibrillation

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Scn3b(-/-) hearts demonstrated significantly longer sinus node recovery times than WT hearts (Hakim 2009)