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FLASH GENE

Symbol

SCN3A

contributors: mct - updated : 18-12-2018

HGNC name	sodium channel, voltage-gated, type III, alpha
HGNC id	10590

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL2Q24 chromosome 2 interstitial deletion, including sub-band 2q24.3 EIEE62 epileptic encephalopathy, early infantile, 62
Location	2q24.3      Physical location : 165.944.031 - 166.060.577
Synonym name	sodium channel, voltage-gated, type III, alpha polypeptide
	brain III voltage-gated sodium channel
Synonym symbol(s)	NAC3, NAv1.3, KIAA1356, EIEE62, FFEVF4

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head, opposite orientation
text	oriented head to head with SCN2A1
STRUCTURE	116.60 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	with two isoforms (neonatal and adult) (Lu)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006922 28 - 9141 NP_008853 226.3 2000 - 2018 30146301 NM_001081677 28 - 8994 NP_001075146 221.5 1951 - 2018 30146301 NM_001081676 28 - 8994 NP_001075145 221.5 1951 - 2018 30146301

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 Nervous brain

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transmembrane domains of homology,each with six alpha helical membrane spanning segments,and two cytoplasmic loops
	one IQ domain
	C-terminal residue that regulates the kinetics and voltage dependence of fast inactivation in sodium channels, possibly via a charge-dependent interaction with the inactivation linker (Nguyen 2010)

HOMOLOGY

interspecies

homolog to murine Scn3a

intraspecies

homolog to SCN2A1

Homologene

FAMILY

sodium channel gene family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	neuronal channel that are essential for the initiation and propagation of action potentials in the CNS and PNS (Meisler 2010)
	with SCN2A, and SCN9A, likely account for the tetrodotoxin-sensitive sodium currents in taste receptor cells (Gao 2009)
	play crucial roles in the initiation and propagation of action potentials and are important regulators of neuronal excitability
	may be involved in the generation of epileptic activity in Focal cortical dysplasia (FCD)type IIb
	SCN3A- dependent electrical excitability and its contribution to (5-hydroxytryptamine, 5-HT) release is a novel mechanism of enterochromaffin (EC) cell function
	unexpected role of SCN3A in progenitor cells and migrating neurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

neurotransmission

synaptic transmission

a component

protein constituent of membrane

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL2Q24 , EIEE62 , FFEV4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function of SCN3A caused by reduced protein expression or deficient trafficking to the plasma membrane may contribute to increased seizure susceptibility

Susceptibility

to epilepsy

Variant & Polymorphism other	mutation linked to epilepsy increases ramp and persistent current of SCN3A and induces hyperexcitability in hippocampal neurons (Holland 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS