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FLASH GENE

Symbol

SCN11A

contributors: mct/npt - updated : 14-12-2013

HGNC name	sodium channel, voltage-gated, type XI, alpha subunit
HGNC id	10583

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HSAN7 hereditary sensory and autonomic neuropathy, type VII
Location	3p22.2      Physical location : 38.887.259 - 38.992.052
Synonym name	sodium channel, voltage-gated, type XI, alpha
	peripheral nerve sodium channel 5
	sensory neuron sodium channel 2
	sodium channel, voltage-gated, type XII, alpha polypeptide
	sodium channel, voltage-gated, type XI, alpha polypeptide
Synonym symbol(s)	NAV1.9, SCN12A, NaN, SNS-2, PN5, FEPS3, HSAN7

DNA

TYPE	functioning gene
STRUCTURE	107.88 kb     26 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_014139 26 - 6500 205 1791 - Raymond (2004) NM_001287223 - - 6331 NP_001274152 - 1791 - -

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 Nervous brain hindbrain pons trigeminal ganglia predominantly Homo sapiens   spinal cord           spinal cord sensory ganglia dorsal root   predominantly Homo sapiens Visual eye retina

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transmembrane domains of homology
	six alpha helical membrane spanning segments
	two cytoplasmic loops

HOMOLOGY

Homologene

FAMILY

sodium channel family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	SCN11A protein is preferentially localized in axons and growth cones

basic FUNCTION	sodium channel voltage-gated resistant to tetrodoxin
	mediating brain-derived neurotrophic factor (BDNF)-evoked membrane depolarization through the receptor tyrosine kinase NTRK2
	its sodium channel provides an important link between inflammatory processes and changes in urodynamic properties that occur during urinary bladder inflammation (Ritter 2009)
	may play a role in different pain conditions, and its signaling might be involved in visceral pain (Leo 2010)
	modulatory role in the development of cold, but not mechanical allodynia in neuropathic pain conditions (Leo 2010)
	plays a crucial role in the generation of heat and mechanical pain hypersensitivity, both in subacute and chronic inflammatory pain models
	its function appears to be essential for activity-dependent axon growth, acting upstream of spontaneous Ca(2+) elevation through voltage-gated calcium channels (VGCCs)
	contributes to expression of persistent Na current in small diameter, nociceptive sensory neurons in dorsal root ganglia and is required for inflammatory pain sensation

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)

HSAN7

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   would be an appealing target for the development of specific drugs to relieve pain neuromuscular spinal muscular atrophy   activation could therefore serve as a target for modulating axonal regeneration in motoneuron diseases such as SMA in which presynaptic activity of VGCCs is reduced

ANIMAL & CELL MODELS

in Nav1.9-null mice, although the Nav1.9 channel does not contribute to basal pain thresholds, it plays an important role in heat pain hypersensitivity induced by subacute paw inflammation