LOCUS       NM_001130194            1971 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus bestrophin 2 (Best2), transcript variant 1, mRNA.
ACCESSION   NM_001130194
VERSION     NM_001130194.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1971)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1971)
  AUTHORS   Concepcion,A.R., Vaeth,M., Wagner,L.E. 2nd, Eckstein,M., Hecht,L.,
            Yang,J., Crottes,D., Seidl,M., Shin,H.P., Weidinger,C., Cameron,S.,
            Turvey,S.E., Issekutz,T., Meyts,I., Lacruz,R.S., Cuk,M., Yule,D.I.
            and Feske,S.
  TITLE     Store-operated Ca2+ entry regulates Ca2+-activated chloride
            channels and eccrine sweat gland function
  JOURNAL   J Clin Invest 126 (11), 4303-4318 (2016)
   PUBMED   27721237
REFERENCE   3  (bases 1 to 1971)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   4  (bases 1 to 1971)
  AUTHORS   Lee,Y.S., Tresguerres,M., Hess,K., Marmorstein,L.Y., Levin,L.R.,
            Buck,J. and Marmorstein,A.D.
  TITLE     Regulation of anterior chamber drainage by bicarbonate-sensitive
            soluble adenylyl cyclase in the ciliary body
  JOURNAL   J Biol Chem 286 (48), 41353-41358 (2011)
   PUBMED   21994938
REFERENCE   5  (bases 1 to 1971)
  AUTHORS   Yu,K., Lujan,R., Marmorstein,A., Gabriel,S. and Hartzell,H.C.
  TITLE     Bestrophin-2 mediates bicarbonate transport by goblet cells in
            mouse colon
  JOURNAL   J Clin Invest 120 (5), 1722-1735 (2010)
   PUBMED   20407206
  REMARK    GeneRIF: Bestrophin-2 mediates bicarbonate transport by goblet
            cells in mouse colon
REFERENCE   6  (bases 1 to 1971)
  AUTHORS   Bakall,B., McLaughlin,P., Stanton,J.B., Zhang,Y., Hartzell,H.C.,
            Marmorstein,L.Y. and Marmorstein,A.D.
  TITLE     Bestrophin-2 is involved in the generation of intraocular pressure
  JOURNAL   Invest Ophthalmol Vis Sci 49 (4), 1563-1570 (2008)
   PUBMED   18385076
  REMARK    GeneRIF: Best2 plays a role in the generation of IOP by regulating
            formation of aqueous humor, and inhibition of Best2 function
            represents an attractive new avenue for regulating IOP in
            individuals with glaucoma.
REFERENCE   7  (bases 1 to 1971)
  AUTHORS   Pifferi,S., Pascarella,G., Boccaccio,A., Mazzatenta,A.,
            Gustincich,S., Menini,A. and Zucchelli,S.
  TITLE     Bestrophin-2 is a candidate calcium-activated chloride channel
            involved in olfactory transduction
  JOURNAL   Proc Natl Acad Sci U S A 103 (34), 12929-12934 (2006)
   PUBMED   16912113
REFERENCE   8  (bases 1 to 1971)
  AUTHORS   Qu,Z., Chien,L.T., Cui,Y. and Hartzell,H.C.
  TITLE     The anion-selective pore of the bestrophins, a family of chloride
            channels associated with retinal degeneration
  JOURNAL   J Neurosci 26 (20), 5411-5419 (2006)
   PUBMED   16707793
REFERENCE   9  (bases 1 to 1971)
  AUTHORS   Kramer,F., Stohr,H. and Weber,B.H.
  TITLE     Cloning and characterization of the murine Vmd2 RFP-TM gene family
  JOURNAL   Cytogenet Genome Res 105 (1), 107-114 (2004)
   PUBMED   15218265
REFERENCE   10 (bases 1 to 1971)
  AUTHORS   Stohr,H., Marquardt,A., Nanda,I., Schmid,M. and Weber,B.H.
  TITLE     Three novel human VMD2-like genes are members of the evolutionary
            highly conserved RFP-TM family
  JOURNAL   Eur J Hum Genet 10 (4), 281-284 (2002)
   PUBMED   12032738
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC163703.4, BY096795.1 and AY450428.1.
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript 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 :: BC036157.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849389 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-12                AC163703.4         146893-146904
            13-166              BY096795.1         3-156
            167-1712            AY450428.1         409-1954
            1713-1971           AC163703.4         153841-154099
FEATURES             Location/Qualifiers
     source          1..1971
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 41.46 cM"
     gene            1..1971
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /note="bestrophin 2"
                     /db_xref="GeneID:212989"
                     /db_xref="MGI:MGI:2387588"
     exon            1..32
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     exon            33..237
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1612
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /note="vitelliform macular dystrophy 2-like protein 1"
                     /codon_start=1
                     /product="bestrophin-2"
                     /protein_id="NP_001123666.1"
                     /db_xref="CCDS:CCDS52621.1"
                     /db_xref="GeneID:212989"
                     /db_xref="MGI:MGI:2387588"
                     /translation="MTVTYTARVANARFGGFSQLLLLWRGSIYKLLWRELLCFLGLYM
                     ALSAAYRFLLAEEQKRYFEKLVIYCDQYASLIPVSFVLGFYVTLVVHRWWNQYLCMPL
                     PDALMCIVAGTVHGRDDRGRLYRRTLMRYAGLSAVLILRSVSTAVFKRFPTIDHVVEA
                     GFMTREERKKFENLNSSYNKYWVPCVWFSSLAAQARREGRIRDNSALKLLLEELNVFR
                     SKCGMLFHYDWISIPLVYTQVVTIAVYSYFLACLIGRQFLDPAQGYKDHTLDLCVPIF
                     TLLQFFFYAGWLKVAEQLINPFGEDDDDFETNFLIDRNFQVSMLAVDEMYDDLAMLEK
                     DLYWDAAEARAPYTAATAFLLQQPSFQGSTFDIALAKEDMQFQRLDGVDGPLGEVHGD
                     FLQRLLPAGAGSVGPLGRRLSLLRRKNSCVSEASTAASCGCAGAADGGGVECGCGDPL
                     LDPSLREPELESPACPEPPAPIPGPTPEPFTTVSIPGPRAPAPPWLPSPIGEEEESPA
                     "
     exon            238..332
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     exon            333..566
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     exon            567..721
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     exon            722..799
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     exon            800..952
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1033
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1188
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1971
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1951..1956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /note="hexamer: AATAAA"
     polyA_site      1971
                     /gene="Best2"
                     /gene_synonym="Vmd2l1"
                     /note="major polyA site"
ORIGIN      
        1 tctctgtccc ttgtgtccct gtacggccac aggcccggac ccaggctaaa accttctcca
       61 ttggccacac tggccaggcg cagcgatgac cgtcacctac acagccagag tggcgaatgc
      121 ccgcttcggt ggcttctcgc agctgctgct gctgtggcgc ggaagcatct acaagctcct
      181 gtggcgagag ctgttatgtt tcctgggact ctacatggca ctaagcgccg cctatcgctt
      241 cttactggca gaagagcaga agcgctactt cgagaagctt gtcatatact gcgaccagta
      301 cgccagcctc atccccgtct ctttcgtact tggcttctac gtgactctgg tggtgcatcg
      361 ctggtggaac cagtacctat gcatgcctct gccggacgca ctcatgtgca tagtggctgg
      421 caccgtgcat gggcgagacg atcgaggccg cctctaccgg cgcacgctca tgcgctacgc
      481 agggctctcc gcggtgctga tccttcgttc tgttagcaca gcagtcttca aacggttccc
      541 cactatagac cacgtggtcg aggctggatt tatgacccga gaagagcgca agaagttcga
      601 gaacttgaat tcgtcctaca acaaatactg ggtgccctgc gtatggttct cgagcctggc
      661 agcgcaggcg cggcgagagg ggcgcatccg cgacaacagt gccctaaagt tgctactaga
      721 ggagctgaat gtgtttcgga gcaaatgtgg gatgctgttt cactacgact ggattagcat
      781 acccctcgtc tacacccagg tagtcactat cgcagtgtac agctacttct tggcttgcct
      841 catcggccgt cagttcctag accctgcaca gggctacaaa gaccacaccc tggacctatg
      901 cgtacccatc ttcaccttgc tgcagttctt cttctacgct ggctggctta aggtagcaga
      961 gcagcttatt aacccttttg gggaagacga cgacgacttt gagaccaact ttcttattga
     1021 ccgcaacttc caggtgtcca tgctagctgt agatgagatg tatgacgact tggccatgct
     1081 ggagaaagat ctatactggg atgcagcaga agctcgcgcg ccctacaccg cggccaccgc
     1141 tttcctgctt cagcagccct ccttccaggg ctccaccttt gatatagcgc tggctaaaga
     1201 ggacatgcag ttccagcggc tggacggcgt ggatggcccg ctgggagagg ttcacgggga
     1261 ctttctgcag cgcctcctgc cggcgggggc gggttctgtg ggtccgctgg ggcggcgcct
     1321 gtcgctgtta aggcgtaaaa acagctgcgt gtcagaggcc tccactgctg ccagctgtgg
     1381 ctgtgcaggc gcggcggatg gcggaggcgt tgagtgcggt tgtggagacc cattgcttga
     1441 ccccagcctg cgggagcctg agctggagtc tcccgcatgt cctgagccgc ctgcccccat
     1501 cccggggcca actcctgaac cttttaccac cgtgtcgatt ccgggtcctc gggctcctgc
     1561 gccaccctgg ctgcccagcc ctattggaga ggaggaagag agtccggcct gagatcctgg
     1621 gaccaggacc cctacggaca cctacctaat cctgcactag acatgctggc gaccaccagg
     1681 gtctgcacaa gctagctagg ccttcagaaa gccgacctac tcattttgac cagcggaatc
     1741 tcccactggg gctggtggtt ttaggggtcc atattctccc agctgttgct gcttccctca
     1801 cccccaaccc cccactcttt aagaggtttt gccttccaaa caccaccacc tgacctgtgg
     1861 cctctgttgg tcttctgacc gtaccttggg ttcttccctt cgagtggaat tgacggccta
     1921 cctcatgaaa ttgtgaggat gaaaaaaata aataaaataa aataaacgaa a
//
