LOCUS       NM_020959               4178 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens anoctamin 8 (ANO8), mRNA.
ACCESSION   NM_020959 XM_050644
VERSION     NM_020959.3
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 4178)
  AUTHORS   Liu,X., Lai,H., Zeng,X., Xin,S., Nie,L., Liang,Z., Wu,M., Chen,Y.,
            Zheng,J. and Zou,Y.
  TITLE     Whole-exome sequencing reveals ANO8 as a genetic risk factor for
            intrahepatic cholestasis of pregnancy
  JOURNAL   BMC Pregnancy Childbirth 20 (1), 544 (2020)
   PUBMED   32942997
  REMARK    GeneRIF: Whole-exome sequencing reveals ANO8 as a genetic risk
            factor for intrahepatic cholestasis of pregnancy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4178)
  AUTHORS   Jha,A., Chung,W.Y., Vachel,L., Maleth,J., Lake,S., Zhang,G.,
            Ahuja,M. and Muallem,S.
  TITLE     Anoctamin 8 tethers endoplasmic reticulum and plasma membrane for
            assembly of Ca2+ signaling complexes at the ER/PM compartment
  JOURNAL   EMBO J 38 (12) (2019)
   PUBMED   31061173
  REMARK    GeneRIF: Anoctamin 8 (ANO8) as a key tether in the formation of the
            Endoplasmic reticulum/Plasma membrane (ER/PM) junctions that is
            essential for STIM1-STIM1 interaction and STIM1-Orai1 interaction
            and channel activation at a ER/PM PI(4,5)P2-rich compartment. Ano8
            assembles all core Calcium signaling proteins.
REFERENCE   3  (bases 1 to 4178)
  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   4  (bases 1 to 4178)
  AUTHORS   Okada,Y., Wu,D., Trynka,G., Raj,T., Terao,C., Ikari,K., Kochi,Y.,
            Ohmura,K., Suzuki,A., Yoshida,S., Graham,R.R., Manoharan,A.,
            Ortmann,W., Bhangale,T., Denny,J.C., Carroll,R.J., Eyler,A.E.,
            Greenberg,J.D., Kremer,J.M., Pappas,D.A., Jiang,L., Yin,J., Ye,L.,
            Su,D.F., Yang,J., Xie,G., Keystone,E., Westra,H.J., Esko,T.,
            Metspalu,A., Zhou,X., Gupta,N., Mirel,D., Stahl,E.A., Diogo,D.,
            Cui,J., Liao,K., Guo,M.H., Myouzen,K., Kawaguchi,T., Coenen,M.J.,
            van Riel,P.L., van de Laar,M.A., Guchelaar,H.J., Huizinga,T.W.,
            Dieude,P., Mariette,X., Bridges,S.L. Jr., Zhernakova,A., Toes,R.E.,
            Tak,P.P., Miceli-Richard,C., Bang,S.Y., Lee,H.S., Martin,J.,
            Gonzalez-Gay,M.A., Rodriguez-Rodriguez,L., Rantapaa-Dahlqvist,S.,
            Arlestig,L., Choi,H.K., Kamatani,Y., Galan,P., Lathrop,M., Eyre,S.,
            Bowes,J., Barton,A., de Vries,N., Moreland,L.W., Criswell,L.A.,
            Karlson,E.W., Taniguchi,A., Yamada,R., Kubo,M., Liu,J.S., Bae,S.C.,
            Worthington,J., Padyukov,L., Klareskog,L., Gregersen,P.K.,
            Raychaudhuri,S., Stranger,B.E., De Jager,P.L., Franke,L.,
            Visscher,P.M., Brown,M.A., Yamanaka,H., Mimori,T., Takahashi,A.,
            Xu,H., Behrens,T.W., Siminovitch,K.A., Momohara,S., Matsuda,F.,
            Yamamoto,K. and Plenge,R.M.
  CONSRTM   RACI consortium; GARNET consortium
  TITLE     Genetics of rheumatoid arthritis contributes to biology and drug
            discovery
  JOURNAL   Nature 506 (7488), 376-381 (2014)
   PUBMED   24390342
REFERENCE   5  (bases 1 to 4178)
  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   6  (bases 1 to 4178)
  AUTHORS   Scudieri,P., Sondo,E., Ferrera,L. and Galietta,L.J.
  TITLE     The anoctamin family: TMEM16A and TMEM16B as calcium-activated
            chloride channels
  JOURNAL   Exp Physiol 97 (2), 177-183 (2012)
   PUBMED   21984732
REFERENCE   7  (bases 1 to 4178)
  AUTHORS   Ousingsawat,J., Kongsuphol,P., Schreiber,R. and Kunzelmann,K.
  TITLE     CFTR and TMEM16A are separate but functionally related Cl- channels
  JOURNAL   Cell Physiol Biochem 28 (4), 715-724 (2011)
   PUBMED   22178883
REFERENCE   8  (bases 1 to 4178)
  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 4178)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of TMEM16H gene in silico
  JOURNAL   Int J Mol Med 15 (2), 353-358 (2005)
   PUBMED   15647853
  REMARK    GeneRIF: Human TMEM16H gene, consisting of 18 exons, is located at
            human chromosome 19p13.11.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010463.6, AB046843.2 and AI860149.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020959.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB046843.2, ERR4352441.67869.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000159087.7/ ENSP00000159087.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AC010463.6         39635-39660
            27-2458             AB046843.2         1-2432
            2459-2459           AC010463.6         46657-46657
            2460-3157           AB046843.2         2434-3131
            3158-3158           AC010463.6         49415-49415
            3159-3622           AB046843.2         3133-3596
            3623-4090           AC010463.6         50712-51179
            4091-4178           AI860149.1         11-98               c
FEATURES             Location/Qualifiers
     source          1..4178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..4178
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /note="anoctamin 8"
                     /db_xref="GeneID:57719"
                     /db_xref="HGNC:HGNC:29329"
                     /db_xref="MIM:610216"
     exon            1..291
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     CDS             186..3884
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /note="transmembrane protein 16H"
                     /codon_start=1
                     /product="anoctamin-8"
                     /protein_id="NP_066010.1"
                     /db_xref="CCDS:CCDS32949.1"
                     /db_xref="GeneID:57719"
                     /db_xref="HGNC:HGNC:29329"
                     /db_xref="MIM:610216"
                     /translation="MAEAASGAGGTSLEGERGKRPPPEGEPAAPASGVLDKLFGKRLL
                     QAGRYLVSHKAWMKTVPTENCDVLMTFPDTTDDHTLLWLLNHIRVGIPELIVQVRHHR
                     HTRAYAFFVTATYESLLRGADELGLRKAVKAEFGGGTRGFSCEEDFIYENVESELRFF
                     TSQERQSIIRFWLQNLRAKQGEALHNVRFLEDQPIIPELAARGIIQQVFPVHEQRILN
                     RLMKSWVQAVCENQPLDDICDYFGVKIAMYFAWLGFYTSAMVYPAVFGSVLYTFTEAD
                     QTSRDVSCVVFALFNVIWSTLFLEEWKRRGAELAYKWGTLDSPGEAVEEPRPQFRGVR
                     RISPITRAEEFYYPPWKRLLFQLLVSLPLCLACLVCVFLLMLGCFQLQELVLSVKGLP
                     RLARFLPKVMLALLVSVSAEGYKKLAIWLNDMENYRLESAYEKHLIIKVVLFQFVNSY
                     LSLFYIGFYLKDMERLKEMLATLLITRQFLQNVREVLQPHLYRRLGRGELGLRAVWEL
                     ARALLGLLSLRRPAPRRLEPQADEGGGGGSGGGGRRCLSGGCGAPEEEEEAALVERRR
                     AGEGGEEGDGPPGGKEEDEDDEEEEDEEEEEDEEEGEEGGLLDCGLRLKKVSFAERGA
                     GRRRPGPSPEALLEEGSPTMVEKGLEPGVFTLAEEDDEAEGAPGSPEREPPAILFRRA
                     GGEGRDQGPDGGPDPEPGSNSDSTRRQRRQNRSSWIDPPEEEHSPQLTQAELESCMKK
                     YEDTFQDYQEMFVQFGYVVLFSSAFPLAALCALVNNLIEIRSDAFKLCTGLQRPFGQR
                     VESIGQWQKVMEAMGVLAIVVNCYLIGQCGQLQRLFPWLSPEAAIVSVVVLEHFALLL
                     KYLIHVAIPDIPGWVAEEMAKLEYQRREAFKRHERQAQHRYQQQQRRRREEEERQRHA
                     EHHARREHDSGGREEARAEGSGLDPATSSEKASAKAKGSTAGGHGPERPKRPGSLLAP
                     NNVMKLKQIIPLQGKFLSSGATSSLAAAGAGATTRPPPAQSPTGSDTRLPAFLSFKFL
                     KSPETRRDSERSHSPPKAFHAGKLFPFGGTRAEPGSNGAGGQARPDGTPSSGSSRVQR
                     SGPVDEALAEELEAPRPEEEGSGTALAPVGAPALRTRRSRSPAPPPPMPLPRPPTPPA
                     GCWQWDGPWGCGGEGAAPRQALAAAECPPCAMAGPPPAPQPLPGDASFYSLPPPPLPP
                     TSDPLETPAPSPSPSPSPQAVCWPSGWH"
     exon            292..402
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            403..535
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            536..674
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            675..771
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            772..888
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1016
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1178
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1331
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1458
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1514
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1589
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..2411
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            2412..2603
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            2604..2735
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            2736..2846
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            2847..3516
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     exon            3517..4178
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4155..4160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /note="hexamer: AATAAA"
     polyA_site      4178
                     /gene="ANO8"
                     /gene_synonym="KIAA1623; TMEM16H"
                     /note="major polyA site"
ORIGIN      
        1 gaatcgaggt tcggctcggg cggggacgag aagcagcgct cgggcgagcg aggaccgagg
       61 ccggcgcggg cgggcgcggc ctttgtctcc tcctcccgcg cgctccgcgg ctgcaccggc
      121 cccatgagcc cgcggctccc cgtcgcccgg gccgtccgta gcccctgacc tgacctgtcc
      181 tcgccatggc cgaggccgcc tccggcgccg ggggcacgtc cctggagggc gagcgtggca
      241 agaggccccc gccggagggc gagcctgcag ccccggcgtc cggagttctg gataagcttt
      301 tcggaaagcg gctcctgcag gctggtcgct acctggtgtc ccacaaggcg tggatgaaga
      361 cggtgcctac agagaactgc gacgtgctga tgaccttccc agacacgacc gatgaccaca
      421 cgctgctatg gctgctgaac cacatccgcg tgggcattcc cgagctcatc gtgcaagtcc
      481 gccaccaccg ccacacgcgt gcctacgcct tctttgtcac cgccacgtat gagagcctac
      541 tccgaggggc cgacgagctg ggtctgcgca aagcagtgaa ggccgagttt ggcgggggca
      601 cccgcggctt ctcctgcgag gaggacttta tctatgagaa tgtggagagc gagctacgct
      661 tcttcacctc ccaggaacgc cagagcatca tccgcttctg gctgcagaat ttgcgtgcca
      721 agcagggaga agcactccac aacgtgcgct tcctggagga ccagccaatc atcccggagc
      781 tggcagcacg tgggatcatc cagcaggtgt tccctgtcca cgagcagcgt attctgaacc
      841 gcctcatgaa gtcatgggtg caggccgtgt gtgaaaacca gcctctagat gacatctgtg
      901 attactttgg tgtgaaaatt gccatgtact tcgcctggct gggcttctac acgtcggcta
      961 tggtataccc agctgtcttc gggtctgtcc tgtacacatt cacagaggct gatcagacaa
     1021 gccgggatgt ttcctgcgtg gtctttgccc tcttcaacgt gatctggtcg acgctgttcc
     1081 tagaggaatg gaagcggaga ggggctgagc tggcatataa gtgggggacg ctggactcac
     1141 ctggggaagc cgtggaggag ccacgccccc agttcagggg cgtgcgacgt atcagcccca
     1201 tcacgcgggc cgaggagttc tactacccgc cctggaagcg gctgctcttc cagctgcttg
     1261 tgagcctccc cctgtgcctg gcgtgcctcg tctgtgtctt cttgctcatg cttggctgct
     1321 tccagctgca ggagctggtg ctgagcgtga aggggttgcc ccgtctcgcc cgattcctgc
     1381 ctaaggtcat gctggccctg cttgtcagtg tgagtgccga gggctacaag aagctagcca
     1441 tctggctcaa tgacatggaa aattaccggc tggagagcgc ctatgagaag cacctcatca
     1501 tcaaagttgt cctgttccag tttgtcaact cgtacctgag cctcttctac atcggtttct
     1561 acctcaagga catggagcgc ttgaaagaga tgctggccac gctgctgatc acccgccagt
     1621 tcctccagaa cgtgcgcgag gtcctgcagc cgcacctgta ccggcgcctg ggccgcggcg
     1681 agctgggcct gcgggccgtc tgggagctgg cccgagccct gcttggcctc ctgagcctcc
     1741 ggcgccctgc gccccgccgc ctcgaacccc aggcggatga gggcgggggc ggcggcagcg
     1801 ggggcggggg ccgcaggtgc ctcagcgggg gctgcggggc gccggaggag gaggaggagg
     1861 cggcgctggt ggagcggcgg cgggcggggg aaggcgggga ggagggggac gggcctccag
     1921 ggggcaagga ggaggacgag gacgacgagg aggaggagga cgaggaggaa gaggaggacg
     1981 aggaggaggg cgaggaaggg ggcctcctgg actgcgggct ccggctgaag aaggtcagct
     2041 tcgctgagcg cggcgcgggg cggcgtcggc ccggcccaag cccggaggcc ctcctggagg
     2101 aagggagccc cactatggtg gagaaggggc tggagccggg agtgttcacc ctggccgagg
     2161 aggacgacga ggcggagggg gctcccggca gccctgaacg ggagcccccg gccatcttgt
     2221 tccgccgggc cgggggcgag ggccgagacc aggggcccga cgggggcccg gacccggaac
     2281 ccggctccaa cagcgattcg acccgtaggc agagacggca gaaccggtcg tcttggattg
     2341 acccgccgga ggaggaacac tcgccccagc tcacccaggc agagctggag agctgtatga
     2401 agaagtacga ggacacgttc caggactacc aggagatgtt cgtgcagttc ggctacgttg
     2461 tgctcttctc gtccgccttc cccctggcgg cgctgtgcgc cctggtcaac aacctcattg
     2521 agatccgcag cgacgccttc aagctgtgca ccgggctgca gcggcccttc ggccagcgcg
     2581 tggaaagcat cggccagtgg cagaaggtga tggaggccat gggtgtccta gcgattgtgg
     2641 tcaactgcta cttaatcggc cagtgcgggc agctgcagcg cctcttcccc tggctgagcc
     2701 cggaggcagc catcgtgtcg gtggtagtgc tcgagcactt cgctctgctc ctcaagtacc
     2761 tcatccacgt ggccatcccc gatatcccgg gctgggtggc cgaggaaatg gccaagctgg
     2821 agtaccagcg ccgcgaggcc tttaagagac acgagcgcca ggcccagcat cgctaccagc
     2881 agcagcagcg caggcggcgg gaggaggagg agcgacagcg ccatgcagag caccatgccc
     2941 ggcgggagca tgattctggt ggccgagagg aggcgagggc cgagggctct gggctggacc
     3001 ctgccacctc ctccgagaag gcctctgcca aggccaaggg cagcactgcg ggtggccacg
     3061 ggcctgaacg gcccaagcgc ccagggtccc tgctggcacc caacaacgtc atgaagttga
     3121 agcagatcat cccactgcag ggcaaattcc tctcgtcagg ggccacatcc tcactggctg
     3181 ctgcaggggc cggagccacc acccggcctc cccctgccca gtcacccaca ggcagcgaca
     3241 cccgcctgcc tgccttcctc agcttcaagt tcctcaagtc acccgagacc cggcgggact
     3301 ctgagcgcag ccactcaccg cccaaagcct tccatgctgg caagctcttc ccctttggtg
     3361 gcacccgggc tgagcctggg tccaacgggg cgggcgggca ggcccggcca gatgggaccc
     3421 ccagcagtgg cagcagccgg gttcagagga gtgggccggt ggacgaggcc ctggctgagg
     3481 agctggaagc cccccggccc gaagaggaag gctcagggac agcgctggcc cccgtgggcg
     3541 cccctgccct ccgcacccgc cgcagccgga gccccgcgcc gccgccgcca atgccgctgc
     3601 cccggccccc gacaccgccc gcaggctgct ggcagtggga cgggccctgg ggctgcgggg
     3661 gcgagggtgc cgccccccgc caggccctgg ccgctgccga gtgcccaccc tgtgccatgg
     3721 ccgggccccc acccgccccc cagcccctgc cgggagacgc cagcttttac agcctcccgc
     3781 ccccaccgct accgcccacc tcggatcccc tcgagacccc agcgccctcc cctagcccca
     3841 gccccagccc ccaggccgtg tgctggccca gcggctggca ttagctctac ccgccctgcc
     3901 ttctcttctc atatgcaata tcagtcattc acaggggcgg ccggtctcca aaatgcaaaa
     3961 tgcgcttcag cccccgaggg cccccagtat tggtcggtgc cccccatctg ccgttttcct
     4021 ttccaaacga aaggaaaccc acaaatccaa cagaaaacac acacacacac acacacacac
     4081 acacacacag aacaggcgat tatttatttg tttttaattt attttgtcat atttttgtaa
     4141 aacggcagaa atgcaataaa aactatattt caacagtg
//
