LOCUS       NM_001286615            4033 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens anoctamin 4 (ANO4), transcript variant 1, mRNA.
ACCESSION   NM_001286615 XM_005268648
VERSION     NM_001286615.2
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 4033)
  AUTHORS   Yang,F., Begemann,A., Reichhart,N., Haeckel,A., Steindl,K.,
            Schellenberger,E., Sturm,R.F., Barth,M., Bassani,S., Boonsawat,P.,
            Courtin,T., Delobel,B., Gunning,B., Hardies,K., Jennesson,M.,
            Legoff,L., Linnankivi,T., Prouteau,C., Smal,N., Spodenkiewicz,M.,
            Toelle,S.P., Van Gassen,K., Van Paesschen,W., Verbeek,N.,
            Ziegler,A., Zweier,M., Horn,A.H.C., Sticht,H., Lerche,H.,
            Weckhuysen,S., Strauss,O. and Rauch,A.
  CONSRTM   EuroEPINOMICS-RES Dravet working group
  TITLE     Missense variants in ANO4 cause sporadic encephalopathic or
            familial epilepsy with evidence for a dominant-negative effect
  JOURNAL   Am J Hum Genet 111 (6), 1184-1205 (2024)
   PUBMED   38744284
  REMARK    GeneRIF: Missense variants in ANO4 cause sporadic encephalopathic
            or familial epilepsy with evidence for a dominant-negative effect.
REFERENCE   2  (bases 1 to 4033)
  AUTHORS   Reichhart,N., Milenkovic,V.M., Wetzel,C.H. and Strauss,O.
  TITLE     Prediction of Functional Consequences of Missense Mutations in ANO4
            Gene
  JOURNAL   Int J Mol Sci 22 (5), 2732 (2021)
   PUBMED   33800471
  REMARK    GeneRIF: Prediction of Functional Consequences of Missense
            Mutations in ANO4 Gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4033)
  AUTHORS   Maniero,C., Scudieri,P., Haris Shaikh,L., Zhao,W., Gurnell,M.,
            Galietta,L.J.V. and Brown,M.J.
  TITLE     ANO4 (Anoctamin 4) Is a Novel Marker of Zona Glomerulosa That
            Regulates Stimulated Aldosterone Secretion
  JOURNAL   Hypertension 74 (5), 1152-1159 (2019)
   PUBMED   31564164
  REMARK    GeneRIF: ANO4 is one of the most highly expressed genes in the
            adrenal zona glomerulosa. It attenuates stimulated aldosterone
            secretion and cell proliferation.
REFERENCE   4  (bases 1 to 4033)
  AUTHORS   Reichhart,N., Schoberl,S., Keckeis,S., Alfaar,A.S., Roubeix,C.,
            Cordes,M., Crespo-Garcia,S., Haeckel,A., Kociok,N., Fockler,R.,
            Fels,G., Mataruga,A., Rauh,R., Milenkovic,V.M., Zuhlke,K.,
            Klussmann,E., Schellenberger,E. and Strauss,O.
  TITLE     Anoctamin-4 is a bona fide Ca2+-dependent non-selective cation
            channel
  JOURNAL   Sci Rep 9 (1), 2257 (2019)
   PUBMED   30783137
  REMARK    GeneRIF: Anoctamin-4 is a bona fide Ca(2+)-dependent non-selective
            cation channel.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4033)
  AUTHORS   Cobb,J., Cule,E., Moncrieffe,H., Hinks,A., Ursu,S., Patrick,F.,
            Kassoumeri,L., Flynn,E., Bulatovic,M., Wulffraat,N., van Zelst,B.,
            de Jonge,R., Bohm,M., Dolezalova,P., Hirani,S., Newman,S.,
            Whitworth,P., Southwood,T.R., De Iorio,M., Wedderburn,L.R. and
            Thomson,W.
  CONSRTM   Childhood Arthritis Response to Medication Study (CHARMS);
            Childhood Arthritis Prospective Study (CAPS); BSPAR study group
  TITLE     Genome-wide data reveal novel genes for methotrexate response in a
            large cohort of juvenile idiopathic arthritis cases
  JOURNAL   Pharmacogenomics J 14 (4), 356-364 (2014)
   PUBMED   24709693
REFERENCE   6  (bases 1 to 4033)
  AUTHORS   Pedemonte,N. and Galietta,L.J.
  TITLE     Structure and function of TMEM16 proteins (anoctamins)
  JOURNAL   Physiol Rev 94 (2), 419-459 (2014)
   PUBMED   24692353
  REMARK    Review article
REFERENCE   7  (bases 1 to 4033)
  AUTHORS   Tian,Y., Schreiber,R. and Kunzelmann,K.
  TITLE     Anoctamins are a family of Ca2+-activated Cl- channels
  JOURNAL   J Cell Sci 125 (Pt 21), 4991-4998 (2012)
   PUBMED   22946059
REFERENCE   8  (bases 1 to 4033)
  AUTHORS   Hartzell,H.C., Yu,K., Xiao,Q., Chien,L.T. and Qu,Z.
  TITLE     Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels
  JOURNAL   J Physiol 587 (Pt 10), 2127-2139 (2009)
   PUBMED   19015192
  REMARK    Review article
REFERENCE   9  (bases 1 to 4033)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of TMEM16E and TMEM16F genes in
            silico
  JOURNAL   Int J Oncol 24 (5), 1345-1349 (2004)
   PUBMED   15067359
REFERENCE   10 (bases 1 to 4033)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     FLJ10261 gene, located within the CCND1-EMS1 locus on human
            chromosome 11q13, encodes the eight-transmembrane protein
            homologous to C12orf3, C11orf25 and FLJ34272 gene products
  JOURNAL   Int J Oncol 22 (6), 1375-1381 (2003)
   PUBMED   12739008
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC325277.1, AK316105.1 and AK091591.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001286615.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.75371.1,
                                           SRR1803615.144926.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392977.8/ ENSP00000376703.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-181               DC325277.1         169-349
            182-1838            AK316105.1         1-1657
            1839-1839           AK091591.1         1703-1703
            1840-3707           AK316105.1         1659-3526
            3708-4033           AK091591.1         3572-3897
FEATURES             Location/Qualifiers
     source          1..4033
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..4033
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /note="anoctamin 4"
                     /db_xref="GeneID:121601"
                     /db_xref="HGNC:HGNC:23837"
                     /db_xref="MIM:610111"
     exon            1..252
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            253..447
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     CDS             393..3260
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein 16D"
                     /codon_start=1
                     /product="anoctamin-4 isoform 1"
                     /protein_id="NP_001273544.1"
                     /db_xref="CCDS:CCDS66445.1"
                     /db_xref="GeneID:121601"
                     /db_xref="HGNC:HGNC:23837"
                     /db_xref="MIM:610111"
                     /translation="MEASSSGITNGKTKVFHPEGGVDLQGYQLDMQILPDGPKSDVDF
                     SEILNAIQEMAKDVNILFDELEAVSSPCKDDDSLLHPGNLTSTSDDASRLEAGGETVP
                     ERNKSNGLYFRDGKCRIDYILVYRKSNPQTEKREVFERNIRAEGLQMEKESSLINSDI
                     IFVKLHAPWEVLGRYAEQMNVRMPFRRKIYYLPRRYKFMSRIDKQISRFRRWLPKKPM
                     RLDKETLPDLEENDCYTAPFSQQRIHHFIIHNKETFFNNATRSRIVHHILQRIKYEEG
                     KNKIGLNRLLTNGSYEAAFPLHEGSYRSKNSIRTHGAENHRHLLYECWASWGVWYKYQ
                     PLDLVRRYFGEKIGLYFAWLGWYTGMLFPAAFIGLFVFLYGVTTLDHSQVSKEVCQAT
                     DIIMCPVCDKYCPFMRLSDSCVYAKVTHLFDNGATVFFAVFMAVWATVFLEFWKRRRA
                     VIAYDWDLIDWEEEEEEIRPQFEAKYSKKERMNPISGKPEPYQAFTDKCSRLIVSASG
                     IFFMICVVIAAVFGIVIYRVVTVSTFAAFKWALIRNNSQVATTGTAVCINFCIIMLLN
                     VLYEKVALLLTNLEQPRTESEWENSFTLKMFLFQFVNLNSSTFYIAFFLGRFTGHPGA
                     YLRLINRWRLEECHPSGCLIDLCMQMGIIMVLKQTWNNFMELGYPLIQNWWTRRKVRQ
                     EHGPERKISFPQWEKDYNLQPMNAYGLFDEYLEMILQFGFTTIFVAAFPLAPLLALLN
                     NIIEIRLDAYKFVTQWRRPLASRAKDIGIWYGILEGIGILSVITNAFVIAITSDFIPR
                     LVYAYKYGPCAGQGEAGQKCMVGYVNASLSVFRISDFENRSEPESDGSEFSGTPLKYC
                     RYRDYRDPPHSLVPYGYTLQFWHVLAARLAFIIVFEHLVFCIKHLISYLIPDLPKDLR
                     DRMRREKYLIQEMMYEAELERLQKERKERKKNGKAHHNEWP"
     exon            448..552
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            553..689
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            690..848
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            849..949
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            950..994
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1126
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1233
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1289
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1411
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..1546
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1643
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1644..1704
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1787
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..1928
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2093
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2094..2130
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2131..2242
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2243..2300
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2301..2398
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2399..2541
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2542..2694
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2695..2842
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2843..2962
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            2963..3068
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            3069..3264
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     exon            3265..4033
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4013..4018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /note="hexamer: AATAAA"
     polyA_site      4033
                     /gene="ANO4"
                     /gene_synonym="TMEM16D"
                     /note="major polyA site"
ORIGIN      
        1 gctttcactc cggctcgctc tccggagagt cctgttccag acttctcagg gtttttacag
       61 cacaaacaac tgcatacggc ccgaggggag gctgaaaagg acttgtgtgt ggtggtttta
      121 ttgcctgtca tcactttgct ggcctcctcc cgactggagc ctggaggttc acagtggatt
      181 tctttctgcc gaagacacca aggcactgag gaaggatccc ttctccttct gttgactctt
      241 tctattttta tggtttaagt ttatctattc atggggctga aaagcgtttg caaatccatc
      301 aacggcgaag tgtggcaagc cgcccagcgt cacgtcgtcg cctgcctgtg gtcaggcatt
      361 cctcactccc accaggcaga aggtcaataa aaatggaggc aagctcttct ggaatcacta
      421 atggaaaaac caaagtcttc cacccagaag gaggtgtgga tttgcaaggc taccagctgg
      481 atatgcaaat actacctgac gggccaaaga gtgatgtgga cttttcagag attcttaatg
      541 caatacaaga aatggccaag gatgtcaata ttctttttga tgaattagaa gctgtcagca
      601 gtccttgcaa agatgacgat tctcttcttc accctggaaa cctgactagt acttcagatg
      661 atgccagcag attggaagcc gggggagaga cagtgccaga aagaaacaaa tcaaatggac
      721 tttactttcg agatggaaag tgtcgaattg actacatcct tgtgtacaga aaatccaacc
      781 cccagactga aaagagagaa gtatttgaaa gaaacattag agcagaagga ttgcaaatgg
      841 agaaagagtc ctctctaata aatagtgaca ttatctttgt gaagttgcat gccccatggg
      901 aagtccttgg aagatatgca gaacaaatga atgtaagaat gcctttcagg agaaaaatct
      961 attacctgcc ccgccgttac aagttcatga gcaggatcga taaacaaata agcaggtttc
     1021 ggagatggtt acctaagaag ccaatgaggc tggacaagga gacactgcca gacctggagg
     1081 agaatgactg ctacactgcc cctttcagcc agcaaaggat ccatcacttc atcatacaca
     1141 acaaagaaac gttcttcaac aatgccacaa gaagtagaat cgtgcatcac attttacaaa
     1201 gaataaaata tgaagaagga aaaaacaaga ttggtctgaa tcgtttgctt accaatggct
     1261 cctatgaagc tgcgtttccc ctgcatgagg gaagttatag aagtaaaaac tccattcgaa
     1321 cccatggagc agaaaaccac cgacatctac tctatgagtg ctgggcctcc tggggcgtgt
     1381 ggtataaata ccaacctttg gatcttgtaa ggcggtactt tggagagaag attgggttat
     1441 attttgcctg gttgggctgg tacaccggca tgctcttccc agctgccttc attggattgt
     1501 ttgtcttttt gtatggcgtc accactctgg atcacagcca agtcagtaaa gaagtctgcc
     1561 aagctacaga tatcatcatg tgtcctgtgt gtgataaata ctgtccattc atgaggctgt
     1621 cagacagctg tgtatatgcc aaggtaaccc acctttttga caatggagcc actgtcttct
     1681 ttgctgtttt catggcagtc tgggcaacag ttttcctgga gttttggaaa agacggcgag
     1741 cagtaattgc ttatgactgg gatttgatag actgggaaga agaggaggaa gaaatacgac
     1801 cccagtttga agccaagtat tccaagaaag agcggatgaa tccaatttct ggaaagccag
     1861 aaccttatca agcatttaca gataaatgca gcagacttat cgtttctgca tctggaatat
     1921 tttttatgat ctgcgtggtg attgctgccg tgttcgggat cgtcatttac cgggtggtga
     1981 ctgtcagcac tttcgctgcc tttaagtggg cgttaatcag gaataactct caggttgcaa
     2041 ccacagggac tgctgtgtgc atcaacttct gtatcattat gttgctgaat gtgctctatg
     2101 aaaaagttgc cctgcttctg acgaatttag aacagcctcg cacagagtct gagtgggaga
     2161 acagcttcac cctgaaaatg tttctttttc agtttgtcaa tctgaacagc tccacatttt
     2221 acatcgcatt cttcctcgga agatttacag gacacccagg tgcctacttg aggctgataa
     2281 acaggtggag actagaagag tgccacccta gtggatgcct tattgatctg tgtatgcaaa
     2341 tgggtattat aatggtgcta aagcagacct ggaataattt catggaactt ggctacccgt
     2401 taattcagaa ttggtggact agaagaaaag tacgacaaga acatggacct gaaaggaaaa
     2461 taagtttccc acaatgggaa aaggactata accttcagcc gatgaatgcc tatggactct
     2521 tcgatgaata cttagaaatg attcttcagt ttggattcac aactatcttt gtggcagctt
     2581 ttcccctagc accacttctg gccttactga ataacataat tgaaattcga cttgatgctt
     2641 acaaatttgt cacacagtgg aggagacctt tagcttcaag ggccaaagac ataggaattt
     2701 ggtatggaat tcttgaaggc attggaattc tctctgttat cacaaatgca tttgtcatag
     2761 cgataacatc tgactttatc cctcgcttgg tgtatgctta taagtatgga ccttgtgcag
     2821 gccaaggaga agctgggcaa aagtgcatgg ttggctatgt gaatgccagc ttgtctgtat
     2881 ttcgaatttc tgactttgag aaccgatctg agcctgaatc tgatggcagt gagttctcgg
     2941 ggactcctct taagtactgc agataccggg actaccgtga cccgcctcat tcactggtgc
     3001 cctatggcta cacactgcag ttttggcatg tcctagctgc tcgattagct tttatcattg
     3061 tctttgagca cctcgtgttt tgtataaagc acctcatttc atatctgatc ccagacctcc
     3121 caaaagacct aagggatcga atgagaagag agaagtactt gattcaggag atgatgtatg
     3181 aagcagaact ggaacgtctc cagaaggaac gaaaggagag gaagaagaat ggaaaagcac
     3241 accacaacga gtggccgtga ccataaaata gtccctttcc aggccaagga cctgaattct
     3301 gtttacttct tctggctgtg caaaagcaca ctcaagtgaa tgactaaaaa tgcaaccaca
     3361 gtgcatgttg cagataccgg cggccgcagg aggggcagca tccagtagag gactggcgtt
     3421 ggagtcacac tgctgtgaaa tcacgttgca gtccagcgca caattgctat ctatccatag
     3481 accattcttg accaagcaag catgcacatt atgggcagtt acattctcaa gtttttaaaa
     3541 tcaaggggaa cttgtatact gggcctgttt ttcagcctgt ttgctacctt ttttgcattc
     3601 tatcccatgt gaattttaca gacactgggc taaaaagggt attcagacac atggacacac
     3661 attcctagaa tgtcatcata tggtcctaat tccatgtcac caacaacaca gacaagaccc
     3721 tgtttacaac tttttctttc ctttttttta attttagacc tttctgagaa gattattata
     3781 tatgacatat ctatagctat gtgtatggcc atagatgtat ttctgtgtgt acatatgtat
     3841 agtcatgtat tcctgcatat gtacatacaa atacagagat atataaagta catagaaatt
     3901 ccttacttgt aaatagccaa aaagtactga catgagtgaa ttttcacatt taaatagtca
     3961 tcaatatgaa gccatgatta atgcttgtat aatgtgatgc aataaaattt aaaataaatt
     4021 tctgcacatg gaa
//
