SCN9A
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | sodium channel, voltage-gated, type IX, alpha subunit |
| Related | SCN1A, SCN2A, SCN3A, SCN4A, SCN5A, SCN7A, SCN8A, SCN10A, SCN11A |
| EntrezGene | 6335 |
| PheGenI | 6335 |
| VariationViewer | 6335 |
| ClinVar | SCN9A |
| GeneCards | SCN9A |
| dbSNP | 6335 |
| Diseases | SCN9A |
| SADR | 6335 |
| HugeNav | 6335 |
| wikipedia | SCN9A |
| SCN9A | |
| gopubmed | SCN9A |
| EVS | SCN9A |
| HEFalMp | SCN9A |
| MyGene2 | SCN9A |
| 23andMe | SCN9A |
| UniProt | Q15858 |
| Ensembl | ENSG00000169432 |
| OMIM | 603415 |
| # SNPs | 52 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1024152367 | 0 | 166,277,137 | |
| rs1057518162 | 0 | 166,280,559 | |
| rs1057518900 | 0 | 166,284,785 | |
| rs1060502047 | 0 | 166,198,763 | |
| rs121908908 | 4 | 166,286,562 | |
| rs121908909 | 4 | 166,277,133 | |
| rs121908910 | 4 | 166,272,731 | |
| rs121908911 | 0 | 166,228,971 | |
| rs121908912 | 0 | 166,228,972 | |
| rs121908913 | 0 | 166,228,969 | |
| rs121908914 | 0 | 166,204,448 | |
| rs121908915 | 0 | 166,204,439 | |
| rs121908916 | 4 | 166,303,162 | |
| rs121908917 | 4 | 166,293,354 | |
| rs121908918 | 0 | 166,284,506 | |
| rs121908919 | 0 | 166,281,786 | |
| rs121908920 | 0 | 166,311,573 | |
| rs121908921 | 0 | 166,306,531 | |
| rs12478318 | 3 | 166,277,030 | |
| rs182650126 | 0 | 166,280,452 | |
| rs187558439 | 0 | 166,204,368 | |
| rs200398202 | 0 | 166,284,560 | |
| rs200945460 | 0 | 166,280,508 | |
| rs200972952 | 0 | 166,306,951 | |
| rs202152511 | 0 | 166,277,138 | |
| rs267607030 | 0 | 166,311,728 | |
| rs41268673 | 0 | 166,284,599 | |
| rs4286289 | 0 | 166,305,201 | |
| rs4369876 | 3 | 166,272,746 | |
| rs4438497 | 0 | 166,320,849 | |
| rs606231279 | 0 | 166,228,871 | |
| rs6746030 | 1 | 166,242,648 | |
| rs6754031 | 0 | 166,298,928 | |
| rs71428908 | 0 | 166,304,242 | |
| rs73969684 | 3 | 166,305,834 | |
| rs746241591 | 0 | 166,204,359 | |
| rs770416478 | 0 | 166,199,247 | |
| rs773824421 | 0 | 166,294,664 | |
| rs794729216 | 0 | 166,277,134 | |
| rs80356468 | 0 | 166,306,571 | |
| rs80356469 | 0 | 166,304,279 | |
| rs80356470 | 0 | 166,303,270 | |
| rs80356471 | 0 | 166,288,566 | |
| rs80356473 | 0 | 166,278,156 | |
| rs80356474 | 0 | 166,277,281 | |
| rs80356475 | 0 | 166,277,251 | |
| rs80356476 | 0 | 166,277,252 | |
| rs80356477 | 0 | 166,277,237 | |
| rs80356478 | 0 | 166,226,587 | |
| rs876661206 | 0 | 166,204,222 | |
| ... further results | |||
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, also known as erythromelalgia or "man on fire" syndrome - 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]
A 2017 Wired magazine article about individuals on both sides of the pain spectrum due to SCN9A mutations can be found here.
