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Aliases & Descriptions for SCN9A
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Descriptions Neuroendocrine sodium channel 3 Peripheral sodium channel 1 3 Sodium channel protein type IX subunit alpha 3 Voltage-gated sodium channel subunit alpha Nav1.7 3 sodium channel, voltage-gated, type IX, alpha 2 sodium channel, voltage-gated, type IX, alpha polypeptide 1 , 2 sodium channel, voltage-gated, type IX, alpha subunit 2 voltage-gated sodium channel alpha subunit Nav1.7 2
Search outside databases for aliases for SCN9A genePrevious GC identifers: GC02M165109 GC02M165596 GC02M167018 GC02M167257 GC02M166880
Summaries for SCN9A (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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UniProtKB/Swiss-Prot: SCN9A_HUMAN, Q15858 Function : Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assumingopened or closed conformations in response to the voltage difference across the membrane, theprotein forms a sodium-selective channel through which Na(+) ions may pass in accordance withtheir electrochemical gradient. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a rolein pain mechanisms, especially in the development of inflammatory pain (By similarity)
Genomic Location for SCN9A
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the SCN9A gene Entrez Gene cytogenetic band: 2q24 Ensembl cytogenetic band: 2q24.3 HGNC cytogenetic band: 2q24 SCN9A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02M166763:
(about GC identifiers )
Start:
166,759,941 bp from pter
End:
166,940,749 bp from pter
Size:
180,809 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000002.10 NT_005403.16 Proteins for SCN9A
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: SCN9A_HUMAN, Q15858 (See
protein sequence )Recommended Name: Sodium channel protein type 9 subunit alpha Size : 1988 amino acids; 226342 Da
Subunit : The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequencerepresents a large polypeptide. Interacts with NEDD4 and NEDD4L (By similarity)
Subcellular location : Membrane; Multi-pass membrane protein. Note=In neurite terminals (Bysimilarity)
Secondary accessions : A1BUH5 Q6B4R9 Q6B4S0 Q6B4S1 Q70HX1 Q70HX2 Q8WTU1 Q8WWN4Alternative splicing : 3 isoforms : Q15858-1 Q15858-2 Q15858-3
Post-translational modifications:
Ubiquitinated by NEDD4L; which may promote its endocytosis. Does not seem to be ubiquitinated byNEDD4 (By similarity)1
REFSEQ proteins: NP_002968.1 ENSEMBL proteins: ENSP00000364536 ENSP00000304748 ENSP00000386306 ENSP00000386330 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0001518 voltage-gated sodium channel complex
IEA -- GO:0016020 membrane
IEA -- GO:0016021 integral to membrane
IEA --
About this table Antibodies for SCN9A: Assays for SCN9A:
Protein
Domains/ Families for SCN9A(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q15858 ProtoNet protein and cluster: Q15858
2 Blocks protein families : IPB000048 IQ calmodulin-binding region IPB001696 Voltage-gated Na+ channel alpha subunit signature UniProtKB/Swiss-Prot: SCN9A_HUMAN, Q15858 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 arecharacterized by a series of positively charged amino acids at every third position Similarity : Belongs to the sodium channel familySimilarity : Contains 1 IQ domain
Gene Function for SCN9A
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Inhib. RNA: Invitrogen RNAi Products for gene knock-down (SCN9A ) Millipore RNAi Products for the Analysis of SCN9A Gene knock-down Abnova Chimera RNAi Products for Gene knock-down (SCN9A )
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002977 Applied Biosystems Silencer ® siRNAs for SCN9A Sigma-Aldrich siRNA and siRNA Panels for SCN9A Sigma-Aldrich shRNA Panels and shRNA for SCN9A Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002977                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002977                                  untagged cDNA clone in CMV expression vector: NM_002977  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002977 UniProtKB/Swiss-Prot: SCN9A_HUMAN, Q15858 Function : Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assumingopened or closed conformations in response to the voltage difference across the membrane, theprotein forms a sodium-selective channel through which Na(+) ions may pass in accordance withtheir electrochemical gradient. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a rolein pain mechanisms, especially in the development of inflammatory pain (By similarity)
Genatlas biochemistry entry for SCN9A :sodium channel voltage-gated,type IX,alpha polypeptide,tetradotoxin sensitive,solely expressed inneuroendocrine cells
4 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Scn9a) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005244 voltage-gated ion channel activity
IEA -- GO:0005248 voltage-gated sodium channel activity
TAS 7720699 GO:0031402 sodium ion binding
IEA --
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Pathways & Interactions for SCN9A
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for SCN9A 4 Interacting proteins for SCN9A (ENSP00000304748 3 ) via UniProtKB, MINT, and/or STRING About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for SCN9A (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for SCN9A
Compounds for SCN9A available from Tocris Bioscience About this table 2 Novoseek chemical compound relationships for SCN9A gene
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Transcripts for SCN9A(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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shRNA from
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OriGene ,
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Inhib. RNA: Invitrogen RNAi Products for gene knock-down (SCN9A ) Millipore RNAi Products for the Analysis of SCN9A Gene knock-down Abnova Chimera RNAi Products for Gene knock-down (SCN9A )
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002977 Sigma-Aldrich siRNA and siRNA Panels for SCN9A Sigma-Aldrich shRNA Panels and shRNA for SCN9A Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_002977
REFSEQ mRNAs for SCN9A gene: NM_002977.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002977
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002977                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002977                                  untagged cDNA clone in CMV expression vector: NM_002977  
Additional cDNA sequence: AJ277393.1 AJ310882.1 AJ310883.1 AJ310897.1 AK307549.1 AY682084.1 AY682085.1 AY682086.1 BC113079.1 BC113080.1 DQ857292.1 X82835.1
6 DOTS entries : DT.203056 DT.310741 DT.120960101 DT.100740641 DT.75152923 DT.92420091
24/26 AceView cDNA sequences (see all 26
):AJ310882 NM_002977 AJ310883 AA298508 BX100638 X82835 CB146297 AJ277393 AJ310897 BG253038 BM993170 CK005041 AL517958 BX409894 BX409895 AY682086 AI091722 AY682085 AY682084 AL517957 BG483641 AA620400 BG227970 BG183871
highest scoring ESTs for SCN9A :X82835 AA298508 AL517958 AI091722 AJ277393 AJ310882 AJ310883 AJ310897 BF839574 BG483641
Unigene Cluster for SCN9A: Sodium channel, voltage-gated, type IX, alpha subunit Hs.439145 [show with all ESTs ] Unigene Representative Sequence: NM_002977 GeneLoc Exon Structure 4 Ensembl transcripts including schematic representations : ENST00000375387
ENST00000303354
ENST00000409672
ENST00000409435
Expression for SCN9A
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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SCN9A expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for SCN9A 1 / 2 / 3
6 probe-sets matching SCN9A gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.439145 Expression variation in blood from EXPOLDB for SCN9A
UniProtKB/Swiss-Prot: SCN9A_HUMAN, Q15858 Tissue specificity : Expressed strongly in dorsal root ganglion, with only minor levels elsewhere inthe body, smooth muscle cells, MTC cell line and C-cell carcinoma. Isoform 1 is expressedpreferentially in the central and peripheral nervous system while isoform 2 is expressedpreferentially in the dorsal root ganglion
Orthologs for SCN9A
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for SCN9A gene from 5/6 species (see all 6
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
SCN9A1
--
sodium channel, voltage-gated, type IX, alpha subunit
91.54(n) 94.53(a)
488381 XM_545503.2 XP_545503.2
cow (Bos taurus)
SCN9A1
--
sodium channel, voltage-gated, type IX, alpha subunit
91.28(n) 94.53(a)
533065 XM_612339.3 XP_612339.3
rat (Rattus norvegicus)
Scn9a1
--
sodium channel, voltage-gated, type IX, alpha
86.82(n) 93.21(a)
78956 NM_133289.1 NP_579823.1
mouse (Mus musculus)
Scn9a1 , 5
2 (36.00 cM) 5
sodium channel, voltage-gated, type IX, alpha1, 5
86.5(n) 1 92.35(a) 1
20274 1 NM_018852.2 1 NP_061340.2 1 AK141838 5 AK141871 5 (see all 14 )
chicken (Gallus gallus)
SCN9A1
--
sodium channel, voltage-gated, type IX, alpha subunit
75.72(n) 76.55(a)
395946 XM_422021.2 XP_422021.2
About this table Species with no ortholog for SCN9A ENSEMBL Gene Tree for SCN9A Paralogs for SCN9A (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for SCN9A gene SCN2A 2 SCN3A 2 SCN1A 2
SNPs/Variants for SCN9A (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for SCN9A (up to first 250kb)
Disorders & Mutations for SCN9A
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 603415 disorders : 133020 243000 167400 UniProtKB/Swiss-Prot: SCN9A_HUMAN, Q15858
Defects in SCN9A are the cause of primary erythermalgia [MIM:133020]. It is an autosomaldominant disease characterized by recurrent episodes of severe pain associated with redness andwarmth in the feet or hands Defects in SCN9A are the cause of autosomal recessive congenital indifference to pain[MIM:243000]; also known as channelopathy-associated insensitivity to pain. Affected individualshave a congenital inability to perceive any form of pain, in any part of the body. All othersensory modalities are preserved and the peripheral and central nervous systems are apparentlyintact. 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 sensoryneuropathy, either axonal or demyelinating Defects in SCN9A are a cause of paroxysmal extreme pain disorder (PEPD) [MIM:167400];previously known as familial rectal pain (FRP). PEPD is an autosomal dominant paroxysmal disorderof pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burningpain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such asskin flushing
2 Novoseek disease relationships for SCN9A gene
About this table GeneTests: SCN9A SCN9A-Related Inherited Erythromelalgia Human Gene Mutation Database : SCN9A Human Genome Epidemiology Navigator: SCN9A (2 documents)
Medical News for SCN9A (Possibly Related Articles in
Doctor's Guide )
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Publications for SCN9A (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/62 PubMed articles for SCN9A gene (see all 62
): Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells. (PubMed id 7720699) 1, 2, 3, 4 Klugbauer N.... Hofmann F. (1995) An SCN9A channelopathy causes congenital inability to experience pain. (PubMed id 17167479) 1, 3, 4 Cox J.J.... Woods C.G. (2006) Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. (PubMed id 14985375) 1, 3, 4 Yang Y.... Shen Y. (2004) A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia. (PubMed id 9169448) 1, 3, 4 Sangameswaran L.... Hunter J.C. (1997) Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. (PubMed id 15385606) 1, 3, 4 Cummins T.R.... Waxman S.G. (2004) Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. (PubMed id 16216943) 1, 3, 4 Michiels J.J.... Drenth J.P.H. (2005) Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. (PubMed id 15958509) 3, 4 Dib-Hajj S.D.... Waxman S.G. (2005) International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. (PubMed id 16382098) 2, 3 Catterall W.A....Waxman S.G. (2005) Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia. (PubMed id 15302875) 3, 4 Raymond C.K.... Johnson J.M. (2004) Voltage-gated sodium channel expressed in cultured human smooth muscle cells: involvement of SCN9A. (PubMed id 15178348) 3, 4 Jo T.... Nakajima T. (2004)
Search for SCN9A
(in PubMed ,
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AND OR
Aliases
SCN9A (Gene Symbol) ETHA NE-NA NENA Nav1.7 PN1 hNE-Na Neuroendocrine sodium channel Peripheral sodium channel 1 Sodium channel protein type IX subunit alpha Voltage-gated sodium channel subunit alpha Nav1.7 sodium channel, voltage-gated, type IX, alpha sodium channel, voltage-gated, type IX, alpha polypeptide sodium channel, voltage-gated, type IX, alpha subunit voltage-gated sodium channel alpha subunit Nav1.7
Disorders
SCN9A-Related Inherited Erythromelalgia
Free Text
Query String
PubMed
OMIM
NCBI Bookshelf
(Note: In FireFox, select the above section and copy using Ctrl-C)
Genome Databases showing SCN9A
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing SCN9A
(According to HUGE )
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--
Specialized Databases showing SCN9A (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=SCN9A Wikipedia http://en.wikipedia.org/wiki/SCN9A Protein Spotlight http://www.expasy.org/spotlight/back_issues/sptlt102.shtml
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-- Services for SCN9A (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for SCN9A:
Tocris compounds for SCN9A
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Aliases for SCN9A
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Drugs/Compounds for SCN9A
Expression for SCN9A
Function for SCN9A
Location for SCN9A
Medical News for SCN9A
Orthologs for SCN9A
Paralogs for SCN9A
Pathways/Interactions for SCN9A
Proteins for SCN9A
Publications for SCN9A
SNPs for SCN9A
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Services for SCN9A
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009