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FLASH GENE

Symbol

SCN4B

contributors: mct/npt - updated : 11-09-2009

HGNC name	sodium channel, voltage-gated, type IV, beta
HGNC id	10592

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11q23.3      Physical location : 118.004.093 - 118.023.630

DNA

TYPE	functioning gene
STRUCTURE	19.44 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001142348 3 - 4177 NP_001135820 - 94 - Medeiros-Domingo (2007) NM_001142349 4 - 4516 NP_001135821 - 118 - Medeiros-Domingo (2007) NM_174934 5 - 4579 NP_777594 - 228 - Medeiros-Domingo (2007)

EXPRESSION

Type

widely

constitutive of

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 Nervous brain           spinal cord

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal signal peptide
	a single transmembrane alpha helix
	an extracellular domain with a single immunoglobulin-like fold, both necessary and sufficient for the modulation of Na(+) channel gating (McCormick 1999)
	a small intracellular domain

conjugated

GlycoP

mono polymer

heteromer

HOMOLOGY

Homologene

FAMILY

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	could alter the channel properties of SCN4A
	has little effect on the channel kinetics of cardiac SCN5A
	may affect both protein-protein interactions and physiological functions of several sodium channel alpha subunits
	play a critical role in regulation of neuronal excitability (Ferreira 2006)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

may interact with SCN4A

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         a missense mutation cosegegating with LQTS in a 3-generation pedigree (Medeiros-Domingo et al,2007)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS