Entity Details

Primary name SCN9A
Entity type gene
Source Source Link

Details

PrimaryID6335
RefseqGeneNG_012798
SymbolSCN9A
Namesodium voltage-gated channel alpha subunit 9
Chromosome2
Location2q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-11-12
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsSCN9A_HUMAN

GO terms

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GOName
GO:0001518 voltage-gated sodium channel complex
GO:0005244 voltage-gated ion channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005887 integral component of plasma membrane
GO:0006814 sodium ion transport
GO:0006954 inflammatory response
GO:0009636 response to toxic substance
GO:0009791 post-embryonic development
GO:0019228 neuronal action potential
GO:0019233 sensory perception of pain
GO:0030424 axon
GO:0031402 sodium ion binding
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0048266 behavioral response to pain
GO:0086010 membrane depolarization during action potential

Diseases

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Disease IDSourceNameDescription
243000 OMIMIndifference to pain, congenital, autosomal recessive (CIP)A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating. The disease is caused by variants affecting the gene represented in this entry.
133020 OMIMPrimary erythermalgia (PERYTHM)Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands. The disease is caused by variants affecting the gene represented in this entry.
167400 OMIMParoxysmal extreme pain disorder (PEPD)Autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
SCN9ANEURL4IntAct29426014 details
SCN9ATRIM37BioGRID32908313 details