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Aliases for SCN11A Gene

Aliases for SCN11A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 11 2 3 5
  • Sodium Channel, Voltage-Gated, Type XI, Alpha Polypeptide 2 3
  • Sodium Channel, Voltage-Gated, Type XI, Alpha Subunit 2 3
  • Voltage-Gated Sodium Channel Subunit Alpha Nav1.9 3 4
  • Sodium Channel Protein Type XI Subunit Alpha 3 4
  • Peripheral Nerve Sodium Channel 5 3 4
  • Sensory Neuron Sodium Channel 2 3 4
  • SCN12A 3 4
  • PN5 3 4
  • Sodium Channel, Voltage-Gated, Type XII, Alpha Polypeptide 3
  • Sodium Channel, Voltage Gated, Type XI Alpha Subunit 2
  • Sodium Channel, Voltage-Gated, Type XII, Alpha 2
  • Sodium Channel Protein Type 11 Subunit Alpha 3
  • NAV1.9 3
  • FEPS3 3
  • HSAN7 3
  • SNS-2 3
  • SNS2 4
  • HNaN 4
  • NaN 3

External Ids for SCN11A Gene

Previous HGNC Symbols for SCN11A Gene

  • SCN12A

Previous GeneCards Identifiers for SCN11A Gene

  • GC03U990114
  • GC03P038198
  • GC03M038700
  • GC03M038847

Summaries for SCN11A Gene

Entrez Gene Summary for SCN11A Gene

  • Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

GeneCards Summary for SCN11A Gene

SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11) is a Protein Coding gene. Diseases associated with SCN11A include Episodic Pain Syndrome, Familial, 3 and Neuropathy, Hereditary Sensory And Autonomic, Type Vii. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Developmental Biology. GO annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot for SCN11A Gene

  • This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.

Tocris Summary for SCN11A Gene

  • Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.

Gene Wiki entry for SCN11A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN11A Gene

Genomics for SCN11A Gene

Regulatory Elements for SCN11A Gene

Enhancers for SCN11A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G039106 1.1 ENCODE 4.3 -153.9 -153944 2.7 HDGF PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 YY1 SLC30A9 FOS SP3 CX3CR1 TTC21A GORASP1 CSRNP1 SCN11A GC03M039097 PIR55888
GH03G038346 1.1 ENCODE 4.1 +606.5 606510 2.0 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 WDR48 XYLB SCN11A PIR42930
GH03G038961 0.8 ENCODE 5.3 -7.5 -7494 0.2 HDAC1 ELF3 CTCF TFAP4 CBX3 SAP130 ETV1 ARID4B RAD21 FOXK2 ENSG00000231243 SCN11A PIR61629
GH03G038985 0.8 Ensembl ENCODE 4.4 -32.6 -32555 1.6 ZNF316 PYGO2 FOS SPI1 GORASP1 TTC21A RNU6-1227P SCN11A PIR61629
GH03G038527 0.6 FANTOM5 dbSUPER 1.5 +426.2 426213 0.6 EXOG SCN10A SLC22A14 SCN11A RPL18AP7 PIR49321
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCN11A on UCSC Golden Path with GeneCards custom track

Genomic Location for SCN11A Gene

Chromosome:
3
Start:
38,845,769 bp from pter
End:
38,953,651 bp from pter
Size:
107,883 bases
Orientation:
Minus strand

Genomic View for SCN11A Gene

Genes around SCN11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN11A Gene

Proteins for SCN11A Gene

  • Protein details for SCN11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI33-SCNBA_HUMAN
    Recommended name:
    Sodium channel protein type 11 subunit alpha
    Protein Accession:
    Q9UI33
    Secondary Accessions:
    • A6NN05
    • C9JD48
    • C9JR31
    • Q68K15
    • Q8NDX3
    • Q9UHE0
    • Q9UHM0

    Protein attributes for SCN11A Gene

    Size:
    1791 amino acids
    Molecular mass:
    204922 Da
    Quaternary structure:
    • The voltage-resistant sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more auxiliary subunits SCN1B, SCN2B and SCN3B.

    Alternative splice isoforms for SCN11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN11A Gene

Post-translational modifications for SCN11A Gene

  • Phosphorylation at Ser-1341 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
  • Glycosylation at isoforms=2, 3290, isoforms=2, 3338, Asn781, isoforms=2, 31209, Asn1216, Asn1222, Asn1230, and isoforms=31568
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCN11A Gene

Domains & Families for SCN11A Gene

Gene Families for SCN11A Gene

Suggested Antigen Peptide Sequences for SCN11A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UI33

UniProtKB/Swiss-Prot:

SCNBA_HUMAN :
  • The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.9/SCN11A subfamily.
Domain:
  • The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.9/SCN11A subfamily.
genes like me logo Genes that share domains with SCN11A: view

Function for SCN11A Gene

Molecular function for SCN11A Gene

GENATLAS Biochemistry:
sodium channel voltage-gated,type XI,alpha polypeptide,preferentially expressed in small diametre sensory neurons of dorsal root ganglia and trigeminal ganglia,resistant to tetrodoxin
UniProtKB/Swiss-Prot Function:
This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.

Gene Ontology (GO) - Molecular Function for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity IBA,TAS --
GO:0005272 sodium channel activity IEA --
genes like me logo Genes that share ontologies with SCN11A: view
genes like me logo Genes that share phenotypes with SCN11A: view

Human Phenotype Ontology for SCN11A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCN11A Gene

MGI Knock Outs for SCN11A:

Animal Model Products

miRNA for SCN11A Gene

miRTarBase miRNAs that target SCN11A

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN11A Gene

Localization for SCN11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN11A Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCN11A gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IEA --
GO:0005886 plasma membrane IEA,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0044299 C-fiber IEA --
genes like me logo Genes that share ontologies with SCN11A: view

Pathways & Interactions for SCN11A Gene

genes like me logo Genes that share pathways with SCN11A: view

Pathways by source for SCN11A Gene

Gene Ontology (GO) - Biological Process for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport TAS 10623608
GO:0019228 neuronal action potential IBA --
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SCN11A: view

No data available for SIGNOR curated interactions for SCN11A Gene

Drugs & Compounds for SCN11A Gene

(35) Drugs for SCN11A Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cocaine Approved, Illicit Pharma inhibitor, Target 511
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 68
Brivaracetam Approved, Investigational Pharma Target, inhibitor ligand for SV2A, selective and high-affinity 0
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 327
Benzocaine Approved Pharma 2016

(2) Additional Compounds for SCN11A Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Tetrodotoxin citrate
18660-81-6

(5) Tocris Compounds for SCN11A Gene

Compound Action Cas Number
QX 314 bromide Na+ channel blocker 24003-58-5
QX 314 chloride Na+ channel blocker 5369-03-9
Tetrodotoxin Na+ channel blocker 4368-28-9
Tetrodotoxin citrate Na+ channel blocker; citrate salt of tetrodotoxin (Cat. No. 1078) 18660-81-6
Veratridine Voltage-gated Na+ channel opener 71-62-5

(26) ApexBio Compounds for SCN11A Gene

Compound Action Cas Number
A-803467 NaV1.8 channel blocker,potent and selective 944261-79-4
Ambroxol HCl TTX-resistant Na+ currents inhibitor 23828-92-4
Amiloride HCl 2016-88-8
Amiloride HCl dihydrate 17440-83-4
Benzocaine 1994-09-7
Bupivacaine HCl Anaesthetic drug 18010-40-7
Camostat Mesilate Trypsin-like protease inhibitor 59721-29-8
Carbamazepine 298-46-4
Dibucaine (Cinchocaine) HCl 1961-12-1
Ibutilide Fumarate Class III antiarrhythmic agent 122647-32-9
Lamotrigine 5-HT inhibitor 84057-84-1
Levobupivacaine HCl 27262-48-2
Mexiletine HCl 5370-01-4
Nefopam HCl 23327-57-3
Ouabain 630-60-4
Oxcarbazepine BTX inhibitor 28721-07-5
Phenytoin 57-41-0
Phenytoin sodium Sodium channel stabilizer 630-93-3
Primidone 125-33-7
Procainamide HCl 614-39-1
Procaine HCl 1951-05-8
Propafenone HCl 34183-22-7
Proparacaine HCl 5875-06-9
Riluzole Sodium channel protein inhibitor 1744-22-5
Tolperisone HCl 3644-61-9
Triamterene 396-01-0
genes like me logo Genes that share compounds with SCN11A: view

Drug Products

Transcripts for SCN11A Gene

mRNA/cDNA for SCN11A Gene

(11) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SCN11A Gene

Sodium channel, voltage-gated, type XI, alpha subunit:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCN11A Gene

No ASD Table

Relevant External Links for SCN11A Gene

GeneLoc Exon Structure for
SCN11A
ECgene alternative splicing isoforms for
SCN11A

Expression for SCN11A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCN11A Gene

mRNA differential expression in normal tissues according to GTEx for SCN11A Gene

This gene is overexpressed in Spleen (x6.8), Testis (x4.4), and Bladder (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of SCN11A Gene:

SCN11A

SOURCE GeneReport for Unigene cluster for SCN11A Gene:

Hs.591657

mRNA Expression by UniProt/SwissProt for SCN11A Gene:

Q9UI33-SCNBA_HUMAN
Tissue specificity: Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta.

Evidence on tissue expression from TISSUES for SCN11A Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN11A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • salivary gland
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with SCN11A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SCN11A Gene

Orthologs for SCN11A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCN11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN11A 34 35
  • 99.03 (n)
dog
(Canis familiaris)
Mammalia SCN11A 34 35
  • 86.14 (n)
cow
(Bos Taurus)
Mammalia SCN11A 34 35
  • 84.26 (n)
mouse
(Mus musculus)
Mammalia Scn11a 34 16 35
  • 77.83 (n)
rat
(Rattus norvegicus)
Mammalia Scn11a 34
  • 77.78 (n)
oppossum
(Monodelphis domestica)
Mammalia SCN11A 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCN11A 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCN11A 35
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01063402.1 35
  • 45 (a)
ManyToMany
scn1a 35
  • 45 (a)
ManyToMany
Species where no ortholog for SCN11A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCN11A Gene

ENSEMBL:
Gene Tree for SCN11A (if available)
TreeFam:
Gene Tree for SCN11A (if available)

Paralogs for SCN11A Gene

(11) SIMAP similar genes for SCN11A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SCN11A: view

Variants for SCN11A Gene

Sequence variations from dbSNP and Humsavar for SCN11A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs138607170 Pathogenic, Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] 38,925,454(+) CACAC(A/G)GAAGG reference, missense
rs141686175 Pathogenic, Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] 38,872,215(+) GGGAC(A/G)GCGCA reference, missense
rs145734191 Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] 38,897,153(+) GGCTC(C/T)GACAG reference, missense
rs483352920 Pathogenic, Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548] 38,894,936(-) ACTGC(C/T)CAATT reference, missense
rs483352921 Pathogenic, Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552] 38,894,945(-) CATTG(C/G)CTTAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SCN11A Gene

Variant ID Type Subtype PubMed ID
dgv769e201 CNV deletion 23290073
dgv885e214 CNV loss 21293372
esv1088777 CNV deletion 17803354
esv2574623 CNV deletion 19546169
esv2725165 CNV deletion 23290073
esv2725166 CNV deletion 23290073
esv2725167 CNV deletion 23290073
esv2725170 CNV deletion 23290073
esv2725171 CNV deletion 23290073
esv2725172 CNV deletion 23290073
esv2725173 CNV deletion 23290073
esv2759141 CNV loss 17122850
esv29050 CNV loss 19812545
esv3349812 CNV insertion 20981092
esv3595916 CNV gain 21293372
nsv955555 CNV deletion 24416366

Variation tolerance for SCN11A Gene

Residual Variation Intolerance Score: 2.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN11A Gene

Human Gene Mutation Database (HGMD)
SCN11A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN11A Gene

Disorders for SCN11A Gene

MalaCards: The human disease database

(14) MalaCards diseases for SCN11A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
episodic pain syndrome, familial, 3
  • familial episodic pain syndrome 3
neuropathy, hereditary sensory and autonomic, type vii
  • hereditary sensory and autonomic neuropathy type 7
sodium channelopathy-related small fiber neuropathy
paroxysmal extreme pain disorder
  • familial rectal pain
erythermalgia, primary
  • small fiber neuropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SCNBA_HUMAN
  • Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]: An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. {ECO:0000269 PubMed:24207120, ECO:0000269 PubMed:24776970, ECO:0000269 PubMed:25791876, ECO:0000269 PubMed:27224030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. {ECO:0000269 PubMed:24036948, ECO:0000269 PubMed:26645915}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCN11A

Genetic Association Database (GAD)
SCN11A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN11A
genes like me logo Genes that share disorders with SCN11A: view

No data available for Genatlas for SCN11A Gene

Publications for SCN11A Gene

  1. Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A. (PMID: 10623608) Jeong S.-Y. … Kanazawa I. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
  2. Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant. (PMID: 26645915) Leipold E. … Kurth I. (Nat. Commun. 2015) 3 4 64
  3. The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy. (PMID: 25791876) Han C. … Waxman S.G. (Neuromolecular Med. 2015) 3 4 64
  4. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. (PMID: 24776970) Huang J. … Waxman S.G. (Brain 2014) 3 4 64
  5. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. (PMID: 24036948) Leipold E. … Kurth I. (Nat. Genet. 2013) 3 4 64

Products for SCN11A Gene

Sources for SCN11A Gene

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