LOCUS       NM_001364791            3683 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens anoctamin 2 (ANO2), transcript variant 3, mRNA.
ACCESSION   NM_001364791 XM_006718988
VERSION     NM_001364791.2
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 3683)
  AUTHORS   Sala-Rabanal,M., Yurtsever,Z., Berry,K.N., McClenaghan,C.,
            Foy,A.J., Hanson,A., Steinberg,D.F., Greven,J.A., Kluender,C.E.,
            Alexander-Brett,J.M., Nichols,C.G. and Brett,T.J.
  TITLE     Modulation of TMEM16B channel activity by the calcium-activated
            chloride channel regulator 4 (CLCA4) in human cells
  JOURNAL   J Biol Chem 300 (7), 107432 (2024)
   PUBMED   38825009
  REMARK    GeneRIF: Modulation of TMEM16B channel activity by the
            calcium-activated chloride channel regulator 4 (CLCA4) in human
            cells.
REFERENCE   2  (bases 1 to 3683)
  AUTHORS   Auer,F., Franco Taveras,E., Klein,U., Kesenheimer,C.,
            Fleischhauer,D., Mohrlen,F. and Frings,S.
  TITLE     Anoctamin 2-chloride channels reduce simple spike activity and
            mediate inhibition at elevated calcium concentration in cerebellar
            Purkinje cells
  JOURNAL   PLoS One 16 (3), e0247801 (2021)
   PUBMED   33651839
  REMARK    GeneRIF: Anoctamin 2-chloride channels reduce simple spike activity
            and mediate inhibition at elevated calcium concentration in
            cerebellar Purkinje cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3683)
  AUTHORS   Tengvall,K., Huang,J., Hellstrom,C., Kammer,P., Bistrom,M.,
            Ayoglu,B., Lima Bomfim,I., Stridh,P., Butt,J., Brenner,N.,
            Michel,A., Lundberg,K., Padyukov,L., Lundberg,I.E., Svenungsson,E.,
            Ernberg,I., Olafsson,S., Dilthey,A.T., Hillert,J., Alfredsson,L.,
            Sundstrom,P., Nilsson,P., Waterboer,T., Olsson,T. and Kockum,I.
  TITLE     Molecular mimicry between Anoctamin 2 and Epstein-Barr virus
            nuclear antigen 1 associates with multiple sclerosis risk
  JOURNAL   Proc Natl Acad Sci U S A 116 (34), 16955-16960 (2019)
   PUBMED   31375628
  REMARK    GeneRIF: a hypothesis where immune reactivity toward EBNA1 through
            molecular mimicry with ANO2 contributes to the etiopathogenesis of
            Multiple sclerosis.
REFERENCE   4  (bases 1 to 3683)
  AUTHORS   Sundell,G.N., Arnold,R., Ali,M., Naksukpaiboon,P., Orts,J.,
            Guntert,P., Chi,C.N. and Ivarsson,Y.
  TITLE     Proteome-wide analysis of phospho-regulated PDZ domain interactions
  JOURNAL   Mol Syst Biol 14 (8), e8129 (2018)
   PUBMED   30126976
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3683)
  AUTHORS   Pifferi,S.
  TITLE     Permeation Mechanisms in the TMEM16B Calcium-Activated Chloride
            Channels
  JOURNAL   PLoS One 12 (1), e0169572 (2017)
   PUBMED   28046119
  REMARK    GeneRIF: residues facing the putative channel pore are responsible
            both for controlling the ion selectivity and the gating of the
            channel, providing an initial understanding of molecular mechanism
            of ion permeation in TMEM16B
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3683)
  AUTHORS   Stohr,H., Heisig,J.B., Benz,P.M., Schoberl,S., Milenkovic,V.M.,
            Strauss,O., Aartsen,W.M., Wijnholds,J., Weber,B.H. and Schulz,H.L.
  TITLE     TMEM16B, a novel protein with calcium-dependent chloride channel
            activity, associates with a presynaptic protein complex in
            photoreceptor terminals
  JOURNAL   J Neurosci 29 (21), 6809-6818 (2009)
   PUBMED   19474308
  REMARK    GeneRIF: This study suggested that TMEM16B to be a strong candidate
            for the long sought-after Ca(2+)-dependent chloride channel in the
            photoreceptor synapse.
REFERENCE   7  (bases 1 to 3683)
  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   8  (bases 1 to 3683)
  AUTHORS   Schneppenheim,R., Castaman,G., Federici,A.B., Kreuz,W.,
            Marschalek,R., Oldenburg,J., Oyen,F. and Budde,U.
  TITLE     A common 253-kb deletion involving VWF and TMEM16B in German and
            Italian patients with severe von Willebrand disease type 3
  JOURNAL   J Thromb Haemost 5 (4), 722-728 (2007)
   PUBMED   17371490
  REMARK    GeneRIF: VWF and TMEM16B deletions may have a role in severe von
            Willebrand disease type 3
REFERENCE   9  (bases 1 to 3683)
  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 3683)
  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
  REMARK    GeneRIF: C12orf3, FLJ10261 (ORAOV2), C11orf25 and FLJ34272
            constitute a family of eight-transmembrane proteins with N- and
            C-terminal tails facing the cytoplasm.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006431.9, AC006560.8 and AC137627.10.
            
            On Jun 2, 2019 this sequence version replaced NM_001364791.1.
            
            Summary: ANO2 belongs to a family of calcium-activated chloride
            channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed
            19015192]).[supplied by OMIM, Jan 2011].
            
            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 :: SRR1660805.151051.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682330.1/ ENSP00000507275.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-64                AC006431.9         2355-2418
            65-249              AC006431.9         24810-24994
            250-576             AC006431.9         26248-26574
            577-675             AC006431.9         93473-93571
            676-827             AC006431.9         115011-115162
            828-882             AC006431.9         117125-117179
            883-934             AC006431.9         119794-119845
            935-990             AC006560.8         15699-15754
            991-1032            AC006560.8         16974-17015
            1033-1097           AC006560.8         23496-23560
            1098-1232           AC006560.8         72097-72231
            1233-1393           AC006560.8         78750-78910
            1394-1476           AC006560.8         83668-83750
            1477-1587           AC006560.8         90437-90547
            1588-1662           AC006560.8         175266-175340
            1663-1858           AC006560.8         187720-187915
            1859-1970           AC137627.10        7293-7404
            1971-2028           AC137627.10        9632-9689
            2029-2129           AC137627.10        9834-9934
            2130-2275           AC137627.10        22961-23106
            2276-2428           AC137627.10        44072-44224
            2429-2481           AC137627.10        44583-44635
            2482-2663           AC137627.10        46575-46756
            2664-2769           AC137627.10        56927-57032
            2770-3683           AC137627.10        59022-59935
FEATURES             Location/Qualifiers
     source          1..3683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3683
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /note="anoctamin 2"
                     /db_xref="GeneID:57101"
                     /db_xref="HGNC:HGNC:1183"
                     /db_xref="MIM:610109"
     exon            1..64
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..3039
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /note="isoform 3 is encoded by transcript variant 3;
                     transmembrane protein 16B (eight membrane-spanning
                     domains); anoctamin 2, calcium activated chloride channel"
                     /codon_start=1
                     /product="anoctamin-2 isoform 3"
                     /protein_id="NP_001351720.1"
                     /db_xref="CCDS:CCDS91642.1"
                     /db_xref="GeneID:57101"
                     /db_xref="HGNC:HGNC:1183"
                     /db_xref="MIM:610109"
                     /translation="MATPGPRDIPLLPGSPRRLSPQAGSRGGQGPKHGQQCLKMPGPR
                     APGLQGGSNRDPGQPCGGESTRSSSVINNYLDANEPVSLEARLSRMHFHDSQRKVDYV
                     LAYHYRKRGVHLAQGFPGHSLAIVSNGETGKEPHAGGPGDIELGPLDALEEERKEQRE
                     EFEHNLMEAGLELEKDLENKSQGSIFVRIHAPWQVLAREAEFLKIKVPTKKMYEIKAG
                     GSIAKKFSAALQKLSSHLQPRVPEHSNNKMKNLSYPFSREKMYLYNIQEKDTFFDNAT
                     RSRIVHEILKRTACSRANNTMGINSLIANNIYEAAYPLHDGEYDSPEDDMNDRKLLYQ
                     EWARYGVFYKFQPIDLIRKYFGEKIGLYFAWLGLYTSFLIPSSVIGVIVFLYGCATIE
                     EDIPSREMCDQQNAFTMCPLCDKSCDYWNLSSACGTAQASHLFDNPATVFFSIFMALW
                     ATMFLENWKRLQMRLGYFWDLTGIEEEEEHSRPEYETKVREKMLKESNQSAVQKLETN
                     TTECGDEDDEDKLTWKDRFPGYLMNFASILFMIALTFSIVFGVIVYRITTAAALSLNK
                     ATRSNVRVTVTATAVIINLVVILILDEIYGAVAKWLTKIEVPKTEQTFEERLILKAFL
                     LKFVNAYSPIFYVAFFKGRFVGRPGSYVYVFDGYRMEECAPGGCLMELCIQLSIIMLG
                     KQLIQNNIFEIGVPKLKKLFRKLKDETEAGETDSAHSKHPEQWDLDYSLEPYTGLTPE
                     YMEMIIQFGFVTLFVASFPLAPVFALLNNVIEVRLDAKKFVTELRRPDAVRTKDIGIW
                     FDILSGIGKFSVISNAFVIAITSDFIPRLVYQYSYSHNGTLHGFVNHTLSFFNVSQLK
                     EGTQPENSQFDQEVQFCRFKDYREPPWAPNPYEFSKQYWFILSARLAFVIIFQNLVMF
                     LSVLVDWMIPDIPTDISDQIKKEKSLLVDFFLKEEHEKLKLMDEPALRSPGGGDRSRS
                     RAASSAPSGQSQLGSMMSSGSQHTNV"
     exon            65..249
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            250..576
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            577..675
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            676..827
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            828..882
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            883..934
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            935..990
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1032
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1097
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1232
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1393
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1394..1476
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1477..1587
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..1662
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..1858
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1859..1970
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            1971..2028
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            2029..2129
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            2130..2275
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            2276..2428
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            2429..2481
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            2482..2663
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            2664..2769
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     exon            2770..3683
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3659..3664
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /note="hexamer: AATAAA"
     polyA_site      3683
                     /gene="ANO2"
                     /gene_synonym="C12orf3; TMEM16B"
                     /note="major polyA site"
ORIGIN      
        1 agaagcgcgc ggccgcgggc cggcggggtc tgcgtccaca tcatggcgac tcccgggccg
       61 cgcgatatac ccctgctccc tggctcccca cgccggctga gccctcaggc agggtccaga
      121 gggggccagg gccccaaaca tggacagcag tgtctcaaga tgccaggtcc ccgggcccca
      181 ggtctgcagg gcggttccaa cagagatcct ggccagccct gcggtggaga gagcacccgc
      241 agcagctctg tcatcaacaa ctatctggat gccaatgagc ctgtgtcctt ggaggcccgt
      301 cttagccgca tgcacttcca tgacagtcag aggaaggtcg actatgtact tgcctaccac
      361 taccggaaac gcggggtgca cctggcccaa ggcttccctg gccactcgct ggctatcgtc
      421 tccaatgggg agacaggcaa ggagcctcat gctgggggcc caggtgacat tgagctggga
      481 ccgctcgatg ccctggagga ggagaggaag gagcagcggg aggaatttga gcacaatctg
      541 atggaggctg gactggagct tgagaaggac ttggagaata aaagccaggg atccatcttt
      601 gtccggatac acgccccgtg gcaggtgctg gccagagagg cagaattctt gaagatcaaa
      661 gttcctacca agaaaatgta cgagatcaaa gcaggaggca gcattgcaaa gaagttcagc
      721 gcggctctgc agaagctgag ctcgcacctg cagccccgag ttccagaaca cagcaacaac
      781 aagatgaaaa acctctccta cccattctcc agggagaaga tgtacctgta caacatccag
      841 gaaaaggaca ccttctttga taatgccacc cgcagccgca ttgtgcacga gatcctgaag
      901 cgcacagcct gctcccgagc caacaacacg atgggtatta actctctgat cgcaaacaat
      961 atctatgagg ctgcctaccc tcttcatgac ggtgaatacg atagtccaga ggacgatatg
     1021 aatgacagga agctgctata tcaagaatgg gcgcgctatg gagtgttcta taagttccaa
     1081 cctattgacc tcatcagaaa gtattttgga gaaaaaattg gactgtattt tgcctggctg
     1141 ggattatata catcattcct catcccatct tctgtaattg gagtgattgt gtttctttat
     1201 ggatgtgcaa caattgaaga agatattccc agcagagaga tgtgtgacca gcagaatgcc
     1261 ttcaccatgt gtcccctgtg tgacaagtcc tgtgattact ggaacctcag ctcagcctgt
     1321 gggaccgcgc aggccagcca cctgtttgac aaccctgcca ccgtcttctt ctctatcttc
     1381 atggctctgt gggctaccat gttcctggaa aactggaaga ggctacagat gcgactgggc
     1441 tacttttggg acctgactgg catagaagag gaagaagaac attccaggcc tgagtatgaa
     1501 accaaagttc gagagaaaat gctaaaggag agcaaccagt ctgctgtcca gaaattggaa
     1561 acaaacacga cggagtgtgg cgatgaggat gatgaagata aactgacctg gaaggatcgt
     1621 ttcccaggtt acctgatgaa ctttgcctcc atcttattca tgattgccct gacattctca
     1681 atcgtctttg gggtgatagt gtatcgaata acaactgcag ccgctctgtc tctcaataag
     1741 gctacacgct ccaatgtccg ggtgacagtg acagcaacag cagtcatcat caacctcgtg
     1801 gtcatcctca tcctggacga gatctacggc gctgtggcca agtggctcac caaaattgag
     1861 gttccgaaaa cagaacagac ttttgaagag cgcctgatcc tcaaagcttt cttgctcaag
     1921 tttgtcaatg cctactcccc catcttctat gtggcctttt tcaaagggag gtttgtgggc
     1981 aggcctggaa gctacgtcta tgtattcgat ggttaccgca tggaagagtg tgctccaggg
     2041 ggctgtctca tggagctctg cattcagctc agcatcatca tgttggggaa gcagttgatc
     2101 cagaacaaca tctttgagat tggagtcccg aagctaaaga aactatttcg aaagctgaaa
     2161 gatgagaccg aagctggaga aactgactct gcccattcga aacatccaga gcagtgggac
     2221 ctagactaca gcttggaacc atacacagga ctgactccgg agtacatgga aatgatcatc
     2281 cagtttggtt ttgtcaccct cttcgtggcc tcctttcccc tggcacctgt gtttgccctc
     2341 ctcaacaacg tcattgaagt gcggctcgat gcaaagaagt ttgttacaga gctgagacgg
     2401 ccggatgctg taagaaccaa agatatcgga atctggtttg acattctctc tggaattggc
     2461 aagttctctg ttatcagcaa cgcttttgtc attgcgatca cctccgactt tatcccccgc
     2521 ctggtgtacc agtactccta cagtcacaat gggactctgc acggctttgt caaccacacc
     2581 ctctcctttt tcaacgtcag ccagctgaag gaggggacgc agccagaaaa ctcacagttt
     2641 gaccaggagg ttcagttctg caggtttaag gattaccgag agccgccatg ggccccgaac
     2701 ccttatgagt tttcgaaaca gtactggttt attctgtccg cccgtctggc ttttgtcata
     2761 atcttccaga acctcgtgat gttcctgagc gtcctcgtgg actggatgat tccagacatc
     2821 cccacggaca tcagcgacca gatcaagaaa gagaagagct tattagtgga tttcttcctg
     2881 aaagaggagc atgagaagct caagctgatg gatgagccgg ctctgaggag cccaggaggt
     2941 ggggatcgaa gcaggagccg ggcagccagc tcagcacctt caggccaaag ccagctgggc
     3001 agcatgatgt cgtcaggctc tcagcacacc aatgtgtgag cagttcagcc tgcagcagag
     3061 gagggcacgg cagcagagac acgcacatgc acgtaagcat gttcctacac ccacatggcg
     3121 tgctgtctgt ctgcaggggc ctggcttgat ggggtcttga agagggggca gtgtgtaaaa
     3181 agaaagagcc tgacagaatg agtgtaggaa ggaagagaaa tgatgctaca tctcagaaac
     3241 ttcaagctta agtttctttt aggtcccctt ttaagctgca tccttttgag ggattggaac
     3301 cccactgggg tctctccacc ccagagtctc aggcaccgcg agcattccca tgtaccctgg
     3361 ggcaccctct tgtacttcac catcatttct gactttgacc agctgtaaga gaaatgcagt
     3421 caggagcaca gcatccccta cttactatca ctacaagaaa actgagtcac ttgcagtggg
     3481 gctgccacag tctcagcaga tgcaaattaa gttacaaggc tgaatggtgc agccgctgga
     3541 cctgatagta aggtgcaaag gtccaaacct gggcttgtct ccacttcacg tcacaaaaac
     3601 gtttggagct aaatgcagat aaccatcatt ttatgaaagt tcagatttaa aataataaaa
     3661 taaatggaca cattctttat aaa
//
