SCN9A (sodium voltage-gated channel alpha subunit 9)

2007-02-01  

Identity

HGNC
SCN9A
LOCATION
2q24.3
LOCUSID
6335
ALIAS
ETHA,FEB3B,GEFSP7,HSAN2D,NE-NA,NENA,Nav1.7,PN1,SFNP

Other Information

Locus ID:

NCBI: 6335
MIM: 603415
HGNC: 10597
Ensembl: ENSG00000169432

Variants:

dbSNP: 6335
ClinVar: 6335
TCGA: ENSG00000169432
COSMIC: SCN9A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169432ENST00000303354Q15858
ENSG00000169432ENST00000409435Q15858
ENSG00000169432ENST00000409672Q15858
ENSG00000169432ENST00000452182H7C064
ENSG00000169432ENST00000454569A0A0C4DG82
ENSG00000169432ENST00000642356Q15858
ENSG00000169432ENST00000643319A0A2R8YCX9
ENSG00000169432ENST00000644316A0A2R8YDP4
ENSG00000169432ENST00000645283A0A2R8Y7G0
ENSG00000169432ENST00000645907Q15858
ENSG00000169432ENST00000667201A0A590UJB2
ENSG00000169432ENST00000667991A0A590UK23

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Taste transductionKEGGko04742
Taste transductionKEGGhsa04742
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
373458382024A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.1
377215352024Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).0
383295872024COMT and SCN9A gene variants do not contribute to chronic low back pain in Mexican-Mestizo patients.0
383941912024Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.1
387434852024Role of Na(V)1.7 in postganglionic sympathetic nerve function in human and guinea-pig arteries.0
373458382024A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.1
377215352024Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).0
383295872024COMT and SCN9A gene variants do not contribute to chronic low back pain in Mexican-Mestizo patients.0
383941912024Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.1
387434852024Role of Na(V)1.7 in postganglionic sympathetic nerve function in human and guinea-pig arteries.0
365390352023The fates of internalized Na(V)1.7 channels in sensory neurons: Retrograde cotransport with other ion channels, axon-specific recycling, and degradation.4
367227222023Nav1.7 P610T mutation in two siblings with persistent ocular pain after corneal axon transection: impaired slow inactivation and hyperexcitable trigeminal neurons.2
367300212023Integrative miRNA-mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy.2
367920432023Na(V)1.7 channels are expressed in the lower airways of the human respiratory tract.1
369810042023SCN9A rs6746030 Polymorphism and Pain Perception in Combat Athletes and Non-Athletes.0

Citation

Dessen P

SCN9A (sodium voltage-gated channel alpha subunit 9)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43758