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FLASH GENE

Symbol

SCN2A

contributors: mct - updated : 19-05-2008

HGNC name	sodium channel, voltage-gated, type II, alpha subunit
HGNC id	10588

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BFNIS benign familial neonatal-infantile seizures DEL2Q24 chromosome 2 interstitial deletion, including sub-band 2q24.3 EIEE11 epileptic encephalopathy, early infantile, 11
Location	2q22-q24      Physical location : 166.095.911 - 166.248.818
Synonym name	sodium channel,brain type 2 alpha subunit
	sodium channel, voltage-gated, type II, alpha 1
	sodium channel, voltage-gated, type II, alpha 2 polypeptide
Synonym symbol(s)	SCN2A1, HBSCI, NAC2, SCN2A2, Nav1.2, HBSCII

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, component of a cluster, head to head, opposite orientation
text	oriented head to head with SCN3A
	voltage-gated sodium channel gene cluster on chromosome 2q24
STRUCTURE	153.00 kb     27 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 - - 8810 228 2005 - Black (2007) variant 3 - - 8571 228 2005 - Black (2007) variant 1 - - 8876 228 2005 - Black (2007)

EXPRESSION

Type	restricted

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         Respiratory lung         Urinary kidney         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

cochlea

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transmembrane domains (4TM) of homology
	each with six alpha helical membrane spanning segments
	two cytoplasmic loops

secondary structure

a glycosylated 260kDa alpha subunit and two beta subunits (36 and 33kDa)

mono polymer

heteromer , trimer

HOMOLOGY

Homologene

FAMILY

sodium channel family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	playing a fundamental role in controling electrical excitability during development and plasticity
	with SCN3A, and SCN9A, likely account for the tetrodotoxin-sensitive sodium currents in taste receptor cells (Gao 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

protein constituent of membrane

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BFNIS , DEL2Q24 , EIEE11

Susceptibility

to autism

Variant & Polymorphism SNP	variant R1902C in SCN2A is located in the calmodulin binding site and was found to reduce binding affinity for calcium-bound calmodulin, and associated to autism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS