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SCN9A

From SNPedia

is agene
is mentioned by
Full namesodium channel, voltage-gated, type IX, alpha subunit
RelatedSCN1A, SCN2A, SCN3A, SCN4A, SCN5A, SCN7A, SCN8A, SCN10A, SCN11A
EntrezGene6335
PheGenI6335
VariationViewer6335
ClinVarSCN9A
GeneCardsSCN9A
dbSNP6335
SADR6335
HugeNav6335
wikipediaSCN9A
googleSCN9A
gopubmedSCN9A
EVSSCN9A
HEFalMpSCN9A
MyGene2SCN9A
23andMeSCN9A
UniProtQ15858
EnsemblENSG00000169432
OMIM603415
# SNPs42
 Max MagnitudeChromosome positionSummary
rs1219089084166,286,562
rs1219089094166,277,133
rs1219089104166,272,731
rs1219089110166,228,971
rs1219089120166,228,972
rs1219089130166,228,969
rs1219089140166,204,448
rs1219089150166,204,439
rs1219089164166,303,162
rs1219089174166,293,354
rs1219089180166,284,506
rs1219089190166,281,786
rs1219089200166,311,573
rs1219089210166,306,531
rs124783180166,277,030
rs1826501260166,280,452
rs1875584390166,204,368
rs2003982020166,284,560
rs2009454600166,280,508
rs2676070300166,311,728
rs412686730166,284,599
rs4286289166,305,201
rs43698760166,272,746
rs4438497166,320,849
rs6062312790166,228,871
rs67460301166,242,648
rs739696840166,305,834
rs7462415910166,204,359
rs7704164780166,199,247
rs7947292160166,277,134
rs803564680166,306,571
rs803564690166,304,279
rs803564700166,303,270
rs803564710166,288,566
rs803564730166,278,156
rs803564740166,277,281
rs803564750166,277,251
rs803564760166,277,252
rs803564770166,277,237
rs803564780166,226,587
rs8766612060166,204,222

The SCN9A gene encodes a voltage-gated sodium channel (subunit Nav1.7). Best known popularly for explaining why some street performers feel absolutely no pain, variations in the SCN9A gene can play a role in at least four types of conditions:

  • Pain - both increased and decreased (even completely absent) pain perception
    • Increased pain sensitivity is generally dominantly inherited as a gain-of-function mutation (therefore found in heterozygotes); includes Paroxysmal Extreme Pain Disorder
    • Decreased pain sensivity is generally recessively inherited as a loss-of-function mutation (so found in homozygotes and compound heterozygotes); this includes Channelopathy-Associated Insensitivity to Pain (CIP)src
  • Primary erythermalgia - childhood onset of vasodilation and extremity pain brought on by exercise, long standing, and exposure to warmth
    • generally dominantly inherited (so found in heterozygotes)
  • Small Fiber Neuropathy
    • generally dominant, gain-of-function mutations (and found in heterozygotes)
  • Epilepsy - associated with febrile seizures
    • apparently dominantly inherited; may be modifying co-inherited variations in other genes [PMID 19763161]


Perhaps the best known study involving this gene came from the study of a ten-year-old street performer in Pakistan. His inability to feel pain enabled him to place knives through his arms and walk on burning coals, but not surprisingly, it didn't protect him from dying when he jumped off a roof at the age of 13. [1]