LOCUS       NP_001352465            1988 aa            linear   PRI 11-FEB-2025
DEFINITION  sodium channel protein type 9 subunit alpha isoform 2 [Homo
            sapiens].
ACCESSION   NP_001352465 XP_005246814
VERSION     NP_001352465.1
DBSOURCE    REFSEQ: accession NM_001365536.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1988)
  AUTHORS   Kim,J.S., Meeker,S., Ru,F., Tran,M., Zabka,T.S., Hackos,D. and
            Undem,B.J.
  TITLE     Role of NaV1.7 in postganglionic sympathetic nerve function in
            human and guinea-pig arteries
  JOURNAL   J Physiol 602 (14), 3505-3518 (2024)
   PUBMED   38743485
  REMARK    GeneRIF: Role of NaV1.7 in postganglionic sympathetic nerve
            function in human and guinea-pig arteries.
REFERENCE   2  (residues 1 to 1988)
  AUTHORS   Noguchi,A., Tezuka,T., Okuda,H., Kobayashi,H., Harada,K.H.,
            Yoshida,T., Akioka,S., Wada,K., Takeya,A., Kabata-Murasawa,R.,
            Kondo,D., Ishikawa,K., Asano,T., Fujiwara,M., Hishikawa,N.,
            Mizukami,T., Hitomi,T., Youssefian,S., Nagai,Y., Tanaka,M., Eto,K.,
            Shiraishi,H., Amaya,F., Koizumi,A. and Takahashi,T.
  TITLE     Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic
            Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic
            Criteria
  JOURNAL   Int J Mol Sci 25 (13), 6832 (2024)
   PUBMED   38999942
  REMARK    GeneRIF: Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial
            Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical
            Diagnostic Criteria.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1988)
  AUTHORS   Waheed,S., Ramzan,K., Ahmad,S., Khan,M.S., Wajid,M., Ullah,H.,
            Umar,A., Iqbal,R., Ullah,R. and Bari,A.
  TITLE     Identification and In-Silico study of non-synonymous functional
            SNPs in the human SCN9A gene
  JOURNAL   PLoS One 19 (2), e0297367 (2024)
   PUBMED   38394191
  REMARK    GeneRIF: Identification and In-Silico study of non-synonymous
            functional SNPs in the human SCN9A gene.
            Erratum:[PLoS One. 2024 Mar 26;19(3):e0301489. doi:
            10.1371/journal.pone.0301489.. PMID: 38530842]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1988)
  AUTHORS   Cox,J.J., Reimann,F., Nicholas,A.K., Thornton,G., Roberts,E.,
            Springell,K., Karbani,G., Jafri,H., Mannan,J., Raashid,Y.,
            Al-Gazali,L., Hamamy,H., Valente,E.M., Gorman,S., Williams,R.,
            McHale,D.P., Wood,J.N., Gribble,F.M. and Woods,C.G.
  TITLE     An SCN9A channelopathy causes congenital inability to experience
            pain
  JOURNAL   Nature 444 (7121), 894-898 (2006)
   PUBMED   17167479
  REMARK    GeneRIF: data suggest that SCN9A is an essential and non-redundant
            requirement for nociception in humans
            GeneRIF: An SCN9A channelopathy causes congenital inability to
            experience pain
REFERENCE   5  (residues 1 to 1988)
  AUTHORS   Plummer,N.W. and Meisler,M.H.
  TITLE     Evolution and diversity of mammalian sodium channel genes
  JOURNAL   Genomics 57 (2), 323-331 (1999)
   PUBMED   10198179
  REMARK    Review article
REFERENCE   6  (residues 1 to 1988)
  AUTHORS   Sangameswaran,L., Fish,L.M., Koch,B.D., Rabert,D.K., Delgado,S.G.,
            Ilnicka,M., Jakeman,L.B., Novakovic,S., Wong,K., Sze,P.,
            Tzoumaka,E., Stewart,G.R., Herman,R.C., Chan,H., Eglen,R.M. and
            Hunter,J.C.
  TITLE     A novel tetrodotoxin-sensitive, voltage-gated sodium channel
            expressed in rat and human dorsal root ganglia
  JOURNAL   J Biol Chem 272 (23), 14805-14809 (1997)
   PUBMED   9169448
REFERENCE   7  (residues 1 to 1988)
  AUTHORS   Klugbauer,N., Lacinova,L., Flockerzi,V. and Hofmann,F.
  TITLE     Structure and functional expression of a new member of the
            tetrodotoxin-sensitive voltage-activated sodium channel family from
            human neuroendocrine cells
  JOURNAL   EMBO J 14 (6), 1084-1090 (1995)
   PUBMED   7720699
REFERENCE   8  (residues 1 to 1988)
  AUTHORS   Schon,K.R., Parker,A.P.J. and Woods,C.G.
  TITLE     Congenital Insensitivity to Pain Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29419974
REFERENCE   9  (residues 1 to 1988)
  AUTHORS   Kurth,I.
  TITLE     Hereditary Sensory and Autonomic Neuropathy Type II
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21089229
REFERENCE   10 (residues 1 to 1988)
  AUTHORS   Hisama,F.M., Dib-Hajj,S.D. and Waxman,S.G.
  TITLE     SCN9A Neuropathic Pain Syndromes
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301342
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074101.5, AC108146.3 and
            AC107082.3.
            
            On Aug 31, 2018 this sequence version replaced XP_005246814.1.
            
            Summary: This gene encodes a voltage-gated sodium channel which
            plays a significant role in nociception signaling. Mutations in
            this gene have been associated with primary erythermalgia,
            channelopathy-associated insensitivity to pain, and paroxysmal
            extreme pain disorder. [provided by RefSeq, Aug 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.201250.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642356.2/ ENSP00000495601.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1988
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     Protein         1..1988
                     /product="sodium channel protein type 9 subunit alpha
                     isoform 2"
                     /note="sodium channel, voltage-gated, type IX, alpha
                     polypeptide; sodium channel protein type 9 subunit alpha;
                     sodium channel, voltage-gated, type IX, alpha subunit;
                     voltage-gated sodium channel alpha subunit Nav1.7; hNE-Na;
                     peripheral sodium channel 1; neuroendocrine sodium
                     channel; sodium channel protein type IX subunit alpha;
                     voltage-gated sodium channel subunit alpha Nav1.7"
                     /calculated_mol_wt=226243
     Region          26..55
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          112..410
                     /region_name="I. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          125..410
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:459842"
     Site            126..145
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            151..172
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            186..204
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            209
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q15858.3)"
     Site            211..227
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            242..267
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            283
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765606,
                     ECO:0007744|PDB:6J8G, ECO:0007744|PDB:6J8H,
                     ECO:0007744|PDB:6J8I, ECO:0007744|PDB:6J8J; propagated
                     from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            377..402
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          461..543
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          535..694
                     /region_name="Na_trans_cytopl"
                     /note="Cytoplasmic domain of voltage-gated Na+ ion
                     channel; pfam11933"
                     /db_xref="CDD:463401"
     Region          565..611
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          726..989
                     /region_name="II. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          743..956
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:459842"
     Site            746..762
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            772..796
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            806..822
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            822
                     /site_type="other"
                     /note="Is directly targeted by the spider protoxin-II.
                     /evidence=ECO:0000269|PubMed:30661758; propagated from
                     UniProtKB/Swiss-Prot (Q15858.3)"
     Site            827
                     /site_type="other"
                     /note="Is directly targeted by the spider protoxin-II.
                     /evidence=ECO:0000269|PubMed:30661758; propagated from
                     UniProtKB/Swiss-Prot (Q15858.3)"
     Site            832..848
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            866..888
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            941..967
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          982..1187
                     /region_name="Na_trans_assoc"
                     /note="Sodium ion transport-associated; pfam06512"
                     /db_xref="CDD:461936"
     Region          1102..1148
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          1180..1488
                     /region_name="III. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1188..1212
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          1191..1466
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:459842"
     Site            1225..1250
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1253..1278
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1288..1304
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1318..1342
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1352
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765606,
                     ECO:0007744|PDB:6J8G, ECO:0007744|PDB:6J8H,
                     ECO:0007744|PDB:6J8I, ECO:0007744|PDB:6J8J; propagated
                     from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1366
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765606,
                     ECO:0007744|PDB:6J8G, ECO:0007744|PDB:6J8H,
                     ECO:0007744|PDB:6J8I, ECO:0007744|PDB:6J8J; propagated
                     from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1375
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765606,
                     ECO:0007744|PDB:6J8G, ECO:0007744|PDB:6J8H,
                     ECO:0007744|PDB:6J8I, ECO:0007744|PDB:6J8J; propagated
                     from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1432..1457
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          1458..1510
                     /region_name="Na_channel_gate"
                     /note="Inactivation gate of the voltage-gated sodium
                     channel alpha subunits; cd13433"
                     /db_xref="CDD:240441"
     Site            1472..1475
                     /site_type="other"
                     /note="putative hydrophobic latch"
                     /db_xref="CDD:240441"
     Site            1490
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:25240195; propagated from
                     UniProtKB/Swiss-Prot (Q15858.3)"
     Region          1497..1795
                     /region_name="IV. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          1514..1770
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:459842"
     Site            1515..1534
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1546..1567
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1577..1598
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1608..1627
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1641..1663
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Site            1734..1759
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     Region          1782..1829
                     /region_name="GPHH"
                     /note="Voltage-dependent L-type calcium channel,
                     IQ-associated; pfam16905"
                     /db_xref="CDD:465306"
     Region          1934..1988
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15858.3)"
     CDS             1..1988
                     /gene="SCN9A"
                     /gene_synonym="ETHA; FEB3B; GEFSP7; HSAN2D; Nav1.7; NE-NA;
                     NENA; PN1; SFNP"
                     /coded_by="NM_001365536.1:299..6265"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS92892.1"
                     /db_xref="GeneID:6335"
                     /db_xref="HGNC:HGNC:10597"
                     /db_xref="MIM:603415"
ORIGIN      
        1 mamlpppgpq sfvhftkqsl alieqriaer kskepkeekk dddeeapkps sdleagkqlp
       61 fiygdippgm vsepledldp yyadkktfiv lnkgktifrf natpalymls pfsplrrisi
      121 kilvhslfsm limctiltnc ifmtmnnppd wtknveytft giytfeslvk ilargfcvge
      181 ftflrdpwnw ldfvvivfay ltefvnlgnv salrtfrvlr alktisvipg lktivgaliq
      241 svkklsdvmi ltvfclsvfa liglqlfmgn lkhkcfrnsl ennetlesim ntleseedfr
      301 kyfyylegsk dallcgfstd sgqcpegytc vkigrnpdyg ytsfdtfswa flalfrlmtq
      361 dywenlyqqt lraagktymi ffvvviflgs fylinlilav vamayeeqnq anieeakqke
      421 lefqqmldrl kkeqeeaeai aaaaaeytsi rrsrimglse sssetsklss ksakerrnrr
      481 kkknqkklss geekgdaekl sksesedsir rksfhlgveg hrrahekrls tpnqsplsir
      541 gslfsarrss rtslfsfkgr grdigsetef addehsifgd nesrrgslfv phrpqerrss
      601 nisqasrspp mlpvngkmhs avdcngvvsl vdgrsalmlp ngqllpevii dkatsddsgt
      661 tnqihkkrrc ssyllsedml ndpnlrqram srasiltntv eeleesrqkc ppwwyrfahk
      721 fliwncspyw ikfkkciyfi vmdpfvdlai ticivlntlf mamehhpmte efknvlaign
      781 lvftgifaae mvlkliamdp yeyfqvgwni fdslivtlsl velfladveg lsvlrsfrll
      841 rvfklakswp tlnmlikiig nsvgalgnlt lvlaiivfif avvgmqlfgk sykecvckin
      901 ddctlprwhm ndffhsfliv frvlcgewie tmwdcmevag qamclivymm vmvignlvvl
      961 nlflalllss fssdnltaie edpdannlqi avtrikkgin yvkqtlrefi lkafskkpki
     1021 sreirqaedl ntkkenyisn htlaemskgh nflkekdkis gfgssvdkhl medsdgqsfi
     1081 hnpsltvtvp iapgesdlen mnaeelssds dseyskvrln rssssecstv dnplpgegee
     1141 aeaepmnsde peacftdgcv wrfsccqvni esgkgkiwwn irktcykive hswfesfivl
     1201 millssgala fediyierkk tikiileyad kiftyifile mllkwiaygy ktyftnawcw
     1261 ldflivdvsl vtlvantlgy sdlgpikslr tlralrplra lsrfegmrvv vnaligaips
     1321 imnvllvcli fwlifsimgv nlfagkfyec inttdgsrfp asqvpnrsec falmnvsqnv
     1381 rwknlkvnfd nvglgylsll qvatfkgwti imyaavdsvn vdkqpkyeys lymyiyfvvf
     1441 iifgsfftln lfigviidnf nqqkkklggq difmteeqkk yynamkklgs kkpqkpiprp
     1501 gnkiqgcifd lvtnqafdis imvliclnmv tmmvekegqs qhmtevlywi nvvfiilftg
     1561 ecvlklislr hyyftvgwni fdfvvviisi vgmfladlie tyfvsptlfr virlarigri
     1621 lrlvkgakgi rtllfalmms lpalfnigll lflvmfiyai fgmsnfayvk kedgindmfn
     1681 fetfgnsmic lfqittsagw dgllapilns kppdcdpkkv hpgssvegdc gnpsvgifyf
     1741 vsyiiisflv vvnmyiavil enfsvatees teplseddfe mfyevwekfd pdatqfiefs
     1801 klsdfaaald pplliakpnk vqliamdlpm vsgdrihcld ilfaftkrvl gesgemdslr
     1861 sqmeerfmsa npskvsyepi tttlkrkqed vsatviqray rryrlrqnvk nissiyikdg
     1921 drdddllnkk dmafdnvnen sspektdats sttsppsyds vtkpdkekye qdrtekedkg
     1981 kdskeskk
//
