LOCUS       NM_183377               3750 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens acid sensing ion channel subunit 2 (ASIC2), transcript
            variant MDEG2, mRNA.
ACCESSION   NM_183377 XM_001125040
VERSION     NM_183377.2
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  (bases 1 to 3750)
  AUTHORS   Thibord,F., Chan,M.V., Chen,M.H. and Johnson,A.D.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   2  (bases 1 to 3750)
  AUTHORS   Yan,X., Zhang,S., Zhao,H., Liu,P., Huang,H., Niu,W., Wang,W. and
            Zhang,C.
  TITLE     ASIC2 Synergizes with TRPV1 in the Mechano-Electrical Transduction
            of Arterial Baroreceptors
  JOURNAL   Neurosci Bull 37 (10), 1381-1396 (2021)
   PUBMED   34215968
  REMARK    GeneRIF: ASIC2 Synergizes with TRPV1 in the Mechano-Electrical
            Transduction of Arterial Baroreceptors.
REFERENCE   3  (bases 1 to 3750)
  AUTHORS   Ackermann,K., Wallner,S., Brochhausen,C. and Schreml,S.
  TITLE     Expression Profiles of ASIC1/2 and TRPV1/4 in Common Skin Tumors
  JOURNAL   Int J Mol Sci 22 (11), 6024 (2021)
   PUBMED   34199609
  REMARK    GeneRIF: Expression Profiles of ASIC1/2 and TRPV1/4 in Common Skin
            Tumors.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3750)
  AUTHORS   Shelton,J.F., Shastri,A.J., Ye,C., Weldon,C.H.,
            Filshtein-Sonmez,T., Coker,D., Symons,A., Esparza-Gordillo,J.,
            Aslibekyan,S. and Auton,A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     Trans-ancestry analysis reveals genetic and nongenetic associations
            with COVID-19 susceptibility and severity
  JOURNAL   Nat Genet 53 (6), 801-808 (2021)
   PUBMED   33888907
REFERENCE   5  (bases 1 to 3750)
  AUTHORS   Lee,C.Y., Huang,T.J., Wu,M.H., Li,Y.Y. and Lee,K.D.
  TITLE     High Expression of Acid-Sensing Ion Channel 2 (ASIC2) in Bone Cells
            in Osteoporotic Vertebral Fractures
  JOURNAL   Biomed Res Int 2019, 4714279 (2019)
   PUBMED   31531354
  REMARK    GeneRIF: ASIC2 could be crucial in the pathogenesis of osteoporosis
            and could serve as a therapeutic target for antiosteoporotic
            therapies.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3750)
  AUTHORS   Bassilana,F., Champigny,G., Waldmann,R., de Weille,J.R.,
            Heurteaux,C. and Lazdunski,M.
  TITLE     The acid-sensitive ionic channel subunit ASIC and the mammalian
            degenerin MDEG form a heteromultimeric H+-gated Na+ channel with
            novel properties
  JOURNAL   J Biol Chem 272 (46), 28819-28822 (1997)
   PUBMED   9360943
REFERENCE   7  (bases 1 to 3750)
  AUTHORS   Garcia-Anoveros,J., Derfler,B., Neville-Golden,J., Hyman,B.T. and
            Corey,D.P.
  TITLE     BNaC1 and BNaC2 constitute a new family of human neuronal sodium
            channels related to degenerins and epithelial sodium channels
  JOURNAL   Proc Natl Acad Sci U S A 94 (4), 1459-1464 (1997)
   PUBMED   9037075
REFERENCE   8  (bases 1 to 3750)
  AUTHORS   Waldmann,R., Voilley,N., Mattei,M.G. and Lazdunski,M.
  TITLE     The human degenerin MDEG, an amiloride-sensitive neuronal cation
            channel, is localized on chromosome 17q11.2-17q12 close to the
            microsatellite D17S798
  JOURNAL   Genomics 37 (2), 269-270 (1996)
   PUBMED   8921408
REFERENCE   9  (bases 1 to 3750)
  AUTHORS   Waldmann,R., Champigny,G., Voilley,N., Lauritzen,I. and
            Lazdunski,M.
  TITLE     The mammalian degenerin MDEG, an amiloride-sensitive cation channel
            activated by mutations causing neurodegeneration in Caenorhabditis
            elegans
  JOURNAL   J Biol Chem 271 (18), 10433-10436 (1996)
   PUBMED   8631835
REFERENCE   10 (bases 1 to 3750)
  AUTHORS   Price,M.P., Snyder,P.M. and Welsh,M.J.
  TITLE     Cloning and expression of a novel human brain Na+ channel
  JOURNAL   J Biol Chem 271 (14), 7879-7882 (1996)
   PUBMED   8626462
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025898.10, AC008133.7 and
            AC003687.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 21, 2020 this sequence version replaced NM_183377.1.
            
            Summary: This gene encodes a member of the degenerin/epithelial
            sodium channel (DEG/ENaC) superfamily. The members of this family
            are amiloride-sensitive sodium channels that contain intracellular
            N and C termini, 2 hydrophobic transmembrane regions, and a large
            extracellular loop, which has many cysteine residues with conserved
            spacing. The member encoded by this gene may play a role in
            neurotransmission. In addition, a heteromeric association between
            this member and acid-sensing (proton-gated) ion channel 3 has been
            observed to co-assemble into proton-gated channels sensitive to
            gadolinium. Alternative splicing has been observed at this locus
            and two variants, encoding distinct isoforms, have been identified.
            [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (MDEG2) represents the longer
            transcript and encodes the longer isoform (MDEG2).
            
            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 :: AL834182.1, AK127748.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000225823.7/ ENSP00000225823.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1888              AC025898.10        125154-127041       c
            1889-2039           AC008133.7         44486-44636         c
            2040-2167           AC008133.7         21432-21559         c
            2168-2318           AC003687.2         44301-44451
            2319-2375           AC003687.2         46711-46767
            2376-2529           AC003687.2         48679-48832
            2530-2621           AC003687.2         51383-51474
            2622-2701           AC003687.2         55009-55088
            2702-2770           AC003687.2         56654-56722
            2771-3750           AC003687.2         58627-59606
FEATURES             Location/Qualifiers
     source          1..3750
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2-q12"
     gene            1..3750
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /note="acid sensing ion channel subunit 2"
                     /db_xref="GeneID:40"
                     /db_xref="HGNC:HGNC:99"
                     /db_xref="MIM:601784"
     exon            1..1888
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     CDS             1181..2872
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /note="similarity to MDEG2 (Mus musculus); isoform MDEG2
                     is encoded by transcript variant MDEG2; neuronal
                     amiloride-sensitive cation channel 1; brain sodium channel
                     1; acid-sensing ion channel 2; mammalian degenerin
                     homolog; acid sensing (proton gated) ion channel 2;
                     amiloride-sensitive cation channel 1, neuronal; brain Na+
                     channel-1"
                     /codon_start=1
                     /product="acid-sensing ion channel 2 isoform MDEG2"
                     /protein_id="NP_899233.1"
                     /db_xref="CCDS:CCDS11276.1"
                     /db_xref="GeneID:40"
                     /db_xref="HGNC:HGNC:99"
                     /db_xref="MIM:601784"
                     /translation="MSRIGGAGLPAAALTGPGRFRMAREEPAPAALAAAGQPGGGRGG
                     ERALQGPGVARRGRPSLSRAKLHGLRHMCAGRTAAGGSFQRRALWVLAFCTSFGLLLS
                     WSSNRLLYWLSFPSHTRVHREWSRQLPFPAVTVCNNNPLRFPRLSKGDLYYAGHWLGL
                     LLPNRTARPLVSELLRGDEPRRQWFRKLADFRLFLPPRHFEGISAAFMDRLGHQLEDM
                     LLSCKYRGELCGPHNFSSVFTKYGKCYMFNSGEDGKPLLTTVKGGTGNGLEIMLDIQQ
                     DEYLPIWGETEETTFEAGVKVQIHSQSEPPFIQELGFGVAPGFQTFVATQEQRLTYLP
                     PPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKE
                     CAEPALGLLAEKDSNYCLCRTPCNLTRYNKELSMVKIPSKTSAKYLEKKFNKSEKYIS
                     ENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYEL
                     IKEKLLDLLGKEEDEGSHDENVSTCDTMPNHSETISHTVNVPLQTTLGTLEEIAC"
     exon            1889..2039
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     exon            2040..2167
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     exon            2168..2318
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     exon            2319..2375
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     exon            2376..2529
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     exon            2530..2621
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     exon            2622..2701
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     exon            2702..2770
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     exon            2771..3750
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3728..3733
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /note="hexamer: ATTAAA"
     polyA_site      3750
                     /gene="ASIC2"
                     /gene_synonym="ACCN; ACCN1; ASIC2a; BNaC1; BNC1; hBNaC1;
                     MDEG"
                     /note="major polyA site"
ORIGIN      
        1 ggagccgcgg ggccagcgag ctgaggagca ggtgctcgga gcccagccgc gccagcgtcg
       61 cgcggccgct gcccaagttc gcctggggcc caaagagggt tctcccgggc aaccggggaa
      121 ggagcttagc cggcgtcacg gccaccgcga gctcggagtc tcgagaggag aagggcgcgc
      181 ggagcagcga gtccgggtca cccccgggag gtgttggcgg gtccccgcag tccccagctc
      241 ttgtcgccgc gggggcagag agaagacgcg agagacagca aggctgggct tttctggaga
      301 cgcgaggcac ctgggagagc cgaggcgaga agcgacactt ccctgcggct agcatccttg
      361 aaggaccccg gcggcgaaca gcctcccgca ggacgccctg agaagctctc agccccaggc
      421 gagagcgggc gcctggcagg acttaggcgc aggacttggg gaagcctaag caggtctctg
      481 ccgagcgcag cccagggagc agtaacaagg aagggtcctg gaggggaagg gaaagaaggc
      541 ggcagccggc aaggcgacca ctcacccccg tacacaccca ccccgcccgc ccagccagga
      601 gccgcggtgc gcctctgggg gcgctcgttc cttggcgcct tctctcccgt gtcccagcac
      661 cgctgggcta cgggccgggc tggtggggtc cctggggatg tccagatcag gcatggtggc
      721 cgagtggccc ttctcccagg accagcgtaa aagctggggt taggcggggc aggggggact
      781 cggctcaggg tcccccgagg tccaggacga gggaaggcgg gcgcagcacc cagggactgg
      841 agaggcggct cccagtggga cccctccaga agtagtgccg ggcgccgggc atcctccagg
      901 aagaccaggg gccgggaaag cctgggaggc gctcgggaga ggccactgcc aggggctgcg
      961 ggctgaggcg gcgctcagcc ccgggcgggc gcccgcggag gcggcagcgg cggcgccggg
     1021 cgggcatgcc gcgccaccgg agctcctttc gggcgcacgc ttccctggcg cgggctgcgc
     1081 gcggctgccg ctgctgctgc ttccactgct gctgcggact cccatggcgg ctccgcccgg
     1141 ccggggccgc cgccgctgcc gccagccgcg ggctgaatga atgagccgga ttggcggagc
     1201 cgggctgccc gcagccgcgc tcaccggccc gggacgcttc cgcatggccc gcgaggagcc
     1261 ggcgcccgcg gcgttggcgg ctgccgggca gcccgggggc ggcagaggcg gcgagcgggc
     1321 gctgcagggg ccaggggtcg cccgcagggg gcggccatcg ctgagccgcg ctaaactgca
     1381 cgggctgcgg cacatgtgtg ccgggcgcac ggcggctggg ggctccttcc agcggcgggc
     1441 gctgtgggtg ctggccttct gtacatcctt cggcttgctg ctgtcctggt cctcgaaccg
     1501 cttgctctac tggctcagct tcccgtcaca cacgcgggtg caccgcgagt ggagccgcca
     1561 gttacccttc cccgccgtca ctgtgtgcaa caacaacccg ctgcgcttcc cgcgcctctc
     1621 caagggggac ctctactatg ccggccactg gctcgggctg ctgctgccca accgcaccgc
     1681 gcgcccgctt gtcagcgagc tgctgcgggg cgacgagccg cgccgccagt ggttccgcaa
     1741 gctggcggac ttccgcctct tcctgcctcc gcgccacttc gagggaatca gcgccgcctt
     1801 catggaccgc ctgggccacc agctggagga catgctgctc tcctgcaagt accgcggcga
     1861 gctctgcggg ccgcacaact tctcctccgt gtttacaaaa tatgggaagt gttacatgtt
     1921 taactcaggc gaggatggca aacctctgct caccacggtc aaggggggga caggcaacgg
     1981 gctggagatc atgctggaca ttcagcagga tgagtacctg cccatctggg gagagacaga
     2041 ggaaacgaca tttgaagcag gagtgaaagt tcagatccac agtcagtctg agccaccttt
     2101 catccaagag ctgggctttg gggtggctcc agggttccag acctttgtgg ccacacagga
     2161 gcagaggctc acatacctgc ccccaccgtg gggtgagtgc cgatcctcag agatgggcct
     2221 cgactttttt cctgtttaca gcatcaccgc ctgtaggatt gactgtgaga cccgctacat
     2281 tgtggaaaac tgcaactgcc gcatggttca catgccaggg gatgcccctt tttgtacccc
     2341 tgagcagcac aaggagtgtg cagagcctgc cctaggtctg ttggcggaaa aggacagcaa
     2401 ttactgtctc tgcaggacac cctgcaacct aacccgctac aacaaagagc tctccatggt
     2461 gaagatcccc agcaagacat cagccaagta ccttgagaag aaatttaaca aatcagaaaa
     2521 atatatctca gagaacatcc ttgttctgga tatatttttt gaagctctca attatgagac
     2581 aattgaacag aagaaggcgt atgaagttgc tgccttactt ggtgatattg gtggtcagat
     2641 gggattgttc attggtgcta gtatccttac aatactagag ctctttgatt atatttatga
     2701 gctgatcaaa gagaagctat tagacctgct tggcaaagag gaggacgaag ggagccacga
     2761 tgagaatgtg agtacttgtg acacaatgcc aaaccactct gaaaccatca gtcacactgt
     2821 gaacgtgccc ctgcagacga ccctggggac cttggaggag attgcctgct gacacccctc
     2881 gagtcaccca gcactccctc caaacagacc ttgaggccca agacccagga caaggaacag
     2941 caagctcagg tgggatggcc ccagtgctgg aaagaagcaa gagcccccta tgcacacatt
     3001 gcagactagc tgcctagacc tcgctccggc cacgtccaac acgacgcatc cttgggcccc
     3061 gccgtgcgtc cctcttagga gagatgagtc acactctgga actgtccaag aacgaacctg
     3121 ccatcacatc tcactgccag atgtataaag cacctgcatg ctcagacttc ttgtggcgcc
     3181 acctccacgt ctgtcttgta catgacactc ctccacgcgg tttccagtgt ccacactgct
     3241 gcccgtgcag tgggaccaga ttccaggtcc aaagtcacca tgaggccacc ctggaatcag
     3301 aactgcacaa tcaagaggga acccatggga ctctctgcta cattcagttc ttgtgtcgtt
     3361 tgtgaaagtt cttaacctgc ccaaaaaccc ccttttcccc aagctgccca tggggcttcg
     3421 gcgccaaagg tgacccgcgc caacctccct cccccccagt gcctatgacg gcggcacagc
     3481 agccagcggg tgggggacgc ctgtgttcac ccatggtgcc catgtcgttc ttctctccct
     3541 gtgacacagc ttgtacagtc tgattctttt tatctggggt aggggggctt ttatgtttgt
     3601 ccgatggaga tttgttttgt tttgcttcat tttatgcttt tttattttag ttttgatgtt
     3661 ctgaggtttg ctttggtttt tccattttct ttggcattta tttattcgtg cttcaaatca
     3721 cagtcatatt aaaagctggt cttgtggaaa
//
