LOCUS       NM_017682               2011 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens bestrophin 2 (BEST2), mRNA.
ACCESSION   NM_017682 XM_005259963
VERSION     NM_017682.3
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 2011)
  AUTHORS   Owji,A.P., Yu,K., Kittredge,A., Wang,J., Zhang,Y. and Yang,T.
  TITLE     Bestrophin-2 and glutamine synthetase form a complex for glutamate
            release
  JOURNAL   Nature 611 (7934), 180-187 (2022)
   PUBMED   36289327
REFERENCE   2  (bases 1 to 2011)
  AUTHORS   Owji,A.P., Wang,J., Kittredge,A., Clark,Z., Zhang,Y.,
            Hendrickson,W.A. and Yang,T.
  TITLE     Structures and gating mechanisms of human bestrophin anion channels
  JOURNAL   Nat Commun 13 (1), 3836 (2022)
   PUBMED   35789156
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2011)
  AUTHORS   Wang,L., Zhu,H., Sun,W., Liang,L., Li,H., Han,C., Huang,W.,
            Zhao,B., Peng,P., Qin,M., Shi,L., Mo,Y. and Huang,J.
  TITLE     Low expression of bestrophin-2 is associated with poor prognosis in
            colon cancer
  JOURNAL   Gene 813, 146117 (2022)
   PUBMED   34902511
  REMARK    GeneRIF: Low expression of bestrophin-2 is associated with poor
            prognosis in colon cancer.
REFERENCE   4  (bases 1 to 2011)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2011)
  AUTHORS   Ito,G., Okamoto,R., Murano,T., Shimizu,H., Fujii,S., Nakata,T.,
            Mizutani,T., Yui,S., Akiyama-Morio,J., Nemoto,Y., Okada,E.,
            Araki,A., Ohtsuka,K., Tsuchiya,K., Nakamura,T. and Watanabe,M.
  TITLE     Lineage-specific expression of bestrophin-2 and bestrophin-4 in
            human intestinal epithelial cells
  JOURNAL   PLoS One 8 (11), e79693 (2013)
   PUBMED   24223998
  REMARK    GeneRIF: BEST2 and BEST4 could be added to the lineage-specific
            genes of humans intestinal epithelial cells
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2011)
  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   7  (bases 1 to 2011)
  AUTHORS   Tsunenari,T., Sun,H., Williams,J., Cahill,H., Smallwood,P.,
            Yau,K.W. and Nathans,J.
  TITLE     Structure-function analysis of the bestrophin family of anion
            channels
  JOURNAL   J Biol Chem 278 (42), 41114-41125 (2003)
   PUBMED   12907679
REFERENCE   8  (bases 1 to 2011)
  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
  REMARK    GeneRIF: identified three novel VMD2-related human genes
            demonstrating a high degree of conservation in their respective
            RFP-TM domains [VMD2L1, VMD2L2, VMD2L3]
REFERENCE   9  (bases 1 to 2011)
  AUTHORS   Sun,H., Tsunenari,T., Yau,K.W. and Nathans,J.
  TITLE     The vitelliform macular dystrophy protein defines a new family of
            chloride channels
  JOURNAL   Proc Natl Acad Sci U S A 99 (6), 4008-4013 (2002)
   PUBMED   11904445
REFERENCE   10 (bases 1 to 2011)
  AUTHORS   Marquardt,A., Stohr,H., Passmore,L.A., Kramer,F., Rivera,A. and
            Weber,B.H.
  TITLE     Mutations in a novel gene, VMD2, encoding a protein of unknown
            properties cause juvenile-onset vitelliform macular dystrophy
            (Best's disease)
  JOURNAL   Hum Mol Genet 7 (9), 1517-1525 (1998)
   PUBMED   9700209
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018761.6, AF440756.1 and
            AK000139.1.
            
            On or before May 8, 2019 this sequence version replaced
            XM_005259963.3, NM_017682.2.
            
            Summary: This gene is a member of the bestrophin gene family of
            anion channels. Bestrophin genes share a similar gene structure
            with highly conserved exon-intron boundaries, but with distinct 3'
            ends. Bestrophins are transmembrane proteins that contain a
            homologous region rich in aromatic residues, including an invariant
            arg-phe-pro motif. Mutation in one of the family members
            (bestrophin 1) is associated with vitelliform macular dystrophy.
            The bestrophin 2 gene is mainly expressed in the retinal pigment
            epithelium and colon. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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##
            CDS exon combination :: AK000139.1, AF440756.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968540, SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000553030.6/ ENSP00000447203.1
            RefSeq Select criteria    :: based on single protein-coding
                                         transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                AC018761.6         96510-96558
            50-100              AC018761.6         97261-97311
            101-2008            AF440756.1         1-1908
            2009-2011           AK000139.1         1844-1846
FEATURES             Location/Qualifiers
     source          1..2011
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..2011
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /note="bestrophin 2"
                     /db_xref="GeneID:54831"
                     /db_xref="HGNC:HGNC:17107"
                     /db_xref="MIM:607335"
     exon            1..49
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            50..252
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..1630
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /note="vitelliform macular dystrophy 2-like 1; VMD2-like
                     gene 1; vitelliform macular dystrophy 2-like protein 1"
                     /codon_start=1
                     /product="bestrophin-2a"
                     /protein_id="NP_060152.2"
                     /db_xref="CCDS:CCDS42506.1"
                     /db_xref="GeneID:54831"
                     /db_xref="HGNC:HGNC:17107"
                     /db_xref="MIM:607335"
                     /translation="MTVTYTARVANARFGGFSQLLLLWRGSIYKLLWRELLCFLGFYM
                     ALSAAYRFVLTEGQKRYFEKLVIYCDQYASLIPVSFVLGFYVTLVVNRWWSQYLCMPL
                     PDALMCVVAGTVHGRDDRGRLYRRTLMRYAGLSAVLILRSVSTAVFKRFPTIDHVVEA
                     GFMTREERKKFENLNSSYNKYWVPCVWFSNLAAQARREGRIRDNSALKLLLEELNVFR
                     GKCGMLFHYDWISVPLVYTQVVTIALYSYFLACLIGRQFLDPAQGYKDHDLDLCVPIF
                     TLLQFFFYAGWLKVAEQLINPFGEDDDDFETNFLIDRNFQVSMLAVDEMYDDLAVLEK
                     DLYWDAAEARAPYTAATVFQLRQPSFQGSTFDITLAKEDMQFQRLDGLDGPMGEAPGD
                     FLQRLLPAGAGMVAGGPLGRRLSFLLRKNSCVSEASTGASCSCAVVPEGAAPECSCGD
                     PLLDPGLPEPEAPPPAGPEPLTLIPGPVEPFSIVTMPGPRGPAPPWLPSPIGEEEENL
                     A"
     exon            253..347
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            348..581
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            582..736
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            737..814
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            815..967
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1048
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1203
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..2011
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1984..1989
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /note="hexamer: AATAAA"
     polyA_site      2011
                     /gene="BEST2"
                     /gene_synonym="VMD2L1"
                     /note="major polyA site"
ORIGIN      
        1 attccatccc tgtccctgtg ggtccttgca ccggccacct tcaacacagc ccccacccgg
       61 gccacccact ctcccttggc cacacctgcc gggtgccacg atgaccgtca cctacacagc
      121 ccgagtggcg aacgcccgct tcggtggctt ctcccagctg ctgctactgt ggcgtgggag
      181 catctacaaa ctcctgtggc gagagctgct ctgcttcctt gggttctaca tggcgctgag
      241 tgctgcctac cgctttgtgc tgaccgaagg gcagaagcgc tacttcgaga agcttgtgat
      301 ttattgtgac cagtatgcca gcctcatccc tgtctccttc gtgcttggct tttatgtgac
      361 gctggtggtg aaccgctggt ggagccagta cctatgcatg ccgctgcccg acgcgctcat
      421 gtgcgtggtg gcgggcaccg tgcacggacg cgacgaccgc ggccgcctct accggcgcac
      481 actcatgcgc tacgcagggc tctcggccgt gctcatcctg cgctccgtca gcaccgcggt
      541 gttcaagcgc ttccccacca tagaccacgt ggtggaggct gggtttatga cccgcgagga
      601 gcgcaagaag tttgaaaacc tgaactcatc ctacaacaag tactgggtgc cctgcgtctg
      661 gttctccaac ctggcggcac aggcccgacg cgagggccgc atccgcgaca acagcgccct
      721 taagctgctg ctcgaggagc tgaatgtttt tcggggcaaa tgtggaatgc tctttcacta
      781 tgactggatt agcgtacccc tcgtgtacac gcaggtggtg accatcgcac tgtacagcta
      841 cttcctggct tgcctcattg gtcgccagtt cctggacccg gctcagggtt acaaagacca
      901 cgacctagac ctgtgtgtgc ccatcttcac cctcttgcag ttcttcttct acgccggctg
      961 gctcaaggta gctgagcagc tcatcaaccc cttcggagag gacgatgatg actttgagac
     1021 caactttctg atcgatagaa acttccaggt gtccatgctg gcagtggacg agatgtatga
     1081 tgacctggct gtgctggaga aggacttgta ctgggatgca gccgaggctc gcgccccata
     1141 cacagcggct actgtcttcc agctgcggca gccttccttc cagggctcca cctttgacat
     1201 cacgctggcc aaagaagaca tgcagttcca gcggctggac ggcttggatg gaccgatggg
     1261 agaggcgccc ggcgacttcc tgcagcgcct cctgccggcg ggcgcgggca tggtcgcggg
     1321 aggcccgctg ggccggcgcc tgtcctttct actccgcaag aacagctgcg tgtcggaggc
     1381 gtctactggg gccagctgct catgcgcggt tgtccccgaa ggcgcggccc cggagtgcag
     1441 ctgcggggac ccgctgctcg accccggcct gccggagccc gaggccccgc cccctgcggg
     1501 tcccgaaccg cttaccctca tccctgggcc tgtcgagccc ttcagcatcg tgaccatgcc
     1561 cgggccccgg ggtccggcgc caccctggct gcccagccct attggcgagg aggaggagaa
     1621 tctggcctga gatcttagag cccagccccc taaggacagg gaaccaggtc cctgcacggc
     1681 acccacgcag gtgtcccggt ctgcataagc ctcgtgtgcc tttgtaaagt ccacctacac
     1741 ttttgaccag ctctcgctgc ccgcatgtgt ttggcgctgt gctaggggcg ggagttcttc
     1801 cagactcttg gaccagcccg ccctgaccac cagctctact tcccaacccc cactgcctga
     1861 gaggtctcta tcagtgtcct gcctgaattc tttccttcaa gtgaagatgt gactgactac
     1921 ctcctcgagt tgtcatgagg atgaaagaat ggcattaaag catttggtat acagtaggtg
     1981 ctcaataaat tgctagtgat ttttactcaa a
//
