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FLASH GENE

Symbol

SCN4A

contributors: mct/npt - updated : 12-01-2016

HGNC name	sodium channel, voltage-gated, type IV, alpha subunit
HGNC id	10591

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000334 24 - 7805 NP_000325 208 1836 - Bennani-Baiti (1995)

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 Endocrine neuroendocrine pituitary     highly Lymphoid/Immune lymph node       highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

secondary structure

an alpha subunit and a smaller beta subunit

HOMOLOGY

interspecies

homolog to murine Scn4a

Homologene

FAMILY

sodium channel family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

mediating the voltage-dependent sodium ion permeability of excitable membranes

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)

HYKPP , HOKPP2 , PMC , CMS16

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS