LOCUS       NM_153274               2512 bp    mRNA    linear   PRI 06-AUG-2024
DEFINITION  Homo sapiens bestrophin 4 (BEST4), mRNA.
ACCESSION   NM_153274
VERSION     NM_153274.3
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 2512)
  AUTHORS   He,X.S., Ye,W.L., Zhang,Y.J., Yang,X.Q., Liu,F., Wang,J.R.,
            Ding,X.L., Yang,Y., Zhang,R.N., Zhao,Y.Y., Bi,H.X., Guo,L.C.,
            Gan,W.J. and Wu,H.
  TITLE     Oncogenic potential of BEST4 in colorectal cancer via activation of
            PI3K/Akt signaling
  JOURNAL   Oncogene 41 (8), 1166-1177 (2022)
   PUBMED   35058597
  REMARK    GeneRIF: Oncogenic potential of BEST4 in colorectal cancer via
            activation of PI3K/Akt signaling.
REFERENCE   2  (bases 1 to 2512)
  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   3  (bases 1 to 2512)
  AUTHORS   Marsey,L.L. and Winpenny,J.P.
  TITLE     Bestrophin expression and function in the human pancreatic duct
            cell line, CFPAC-1
  JOURNAL   J Physiol 587 (Pt 10), 2211-2224 (2009)
   PUBMED   19237432
  REMARK    GeneRIF: Results provide evidence that the bestrophins are
            expressed in pancreatic duct cells and, more specifically, that
            hBest1 plays a role in the calcium activated chloride channels
            found in these cells.
REFERENCE   4  (bases 1 to 2512)
  AUTHORS   Qu,Z. and Hartzell,H.C.
  TITLE     Bestrophin Cl- channels are highly permeable to HCO3-
  JOURNAL   Am J Physiol Cell Physiol 294 (6), C1371-C1377 (2008)
   PUBMED   18400985
REFERENCE   5  (bases 1 to 2512)
  AUTHORS   Tsunenari,T., Nathans,J. and Yau,K.W.
  TITLE     Ca2+-activated Cl- current from human bestrophin-4 in excised
            membrane patches
  JOURNAL   J Gen Physiol 127 (6), 749-754 (2006)
   PUBMED   16702355
  REMARK    GeneRIF: Human Best4 chloride channels on excised membrane patches
            can be activated by free calcium (Ca2+) on the cytoplasmic side.
REFERENCE   6  (bases 1 to 2512)
  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   7  (bases 1 to 2512)
  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
REFERENCE   8  (bases 1 to 2512)
  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 AL592166.16, BC101823.1,
            AF440757.1 and BM142321.1.
            
            On Nov 23, 2018 this sequence version replaced NM_153274.2.
            
            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 4 gene is predominantly expressed in the colon.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF440757.1, BC101823.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372207.4/ ENSP00000361281.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-416               AL592166.16        51783-52198         c
            417-941             BC101823.1         1-525
            942-2510            AF440757.1         477-2045
            2511-2512           BM142321.1         509-510
FEATURES             Location/Qualifiers
     source          1..2512
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..2512
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /note="bestrophin 4"
                     /db_xref="GeneID:266675"
                     /db_xref="HGNC:HGNC:17106"
                     /db_xref="MIM:607336"
     exon            1..617
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             466..1887
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /note="vitelliform macular dystrophy 2-like 2; vitelliform
                     macular dystrophy 2-like protein 2"
                     /codon_start=1
                     /product="bestrophin-4"
                     /protein_id="NP_695006.1"
                     /db_xref="CCDS:CCDS514.1"
                     /db_xref="GeneID:266675"
                     /db_xref="HGNC:HGNC:17106"
                     /db_xref="MIM:607336"
                     /translation="MTVSYTLKVAEARFGGFSGLLLRWRGSIYKLLYKEFLLFGALYA
                     VLSITYRLLLTQEQRYVYAQVARYCNRSADLIPLSFVLGFYVTLVVNRWWSQYTSIPL
                     PDQLMCVISASVHGVDQRGRLLRRTLIRYANLASVLVLRSVSTRVLKRFPTMEHVVDA
                     GFMSQEERKKFESLKSDFNKYWVPCVWFTNLAAQARRDGRIRDDIALCLLLEELNKYR
                     AKCSMLFHYDWISIPLVYTQVVTIAVYSFFALSLVGRQFVEPEAGAAKPQKLLKPGQE
                     PAPALGDPDMYVPLTTLLQFFFYAGWLKVAEQIINPFGEDDDDFETNQLIDRNLQVSL
                     LSVDEMYQNLPPAEKDQYWDEDQPQPPYTVATAAESLRPSFLGSTFNLRMSDDPEQSL
                     QVEASPGSGRPAPAAQTPLLGRFLGVGAPSPAISLRNFGRVRGTPRPPHLLRFRAEEG
                     GDPEAAARIEEESAESGDEALEP"
     exon            618..712
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            713..946
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1101
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1179
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1377
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1378..1458
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1613
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1614..2512
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2490..2495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /note="hexamer: AATATA"
     polyA_site      2512
                     /gene="BEST4"
                     /gene_synonym="VMD2L2"
                     /note="major polyA site"
ORIGIN      
        1 agttcatctt ccacacgggc tgctgcccag agcaggtagg caggtatggg atgggggtga
       61 gagtgccctg ggccctggta gttctagtta atcagcttcc aaagcaaggc cccaaggaat
      121 agcagtggat ttgggctgga gctgcgtctc ttgtccgcag cagttcagga tctggttatc
      181 cctagccctg caggctgaag aggagcttga ggaaacctca tgcatgaagg gacacagatc
      241 tcagttctac cttgtccaac tctagcctgg ctttgcccat gtactgctca gttctgcagg
      301 gggtggggtg tacttttctg ctctgcaggc tcctaccccc ttgtccactg acgcagggtg
      361 aaggctgggg tgtgtgagac cagagtggaa gggaggttgt ctggagaact aaacgacagc
      421 cctgggggca actcttgtga cctcctgccc caggctccca gcaccatgac ggtttcatac
      481 actctcaaag tggcggaggc ccgcttcgga ggtttctctg gcctgcttct ccgctggagg
      541 ggaagcatct acaagctcct ctacaaggaa ttcctcctct ttggggcctt gtacgctgtg
      601 cttagcatca cctaccggct gctgctgacc caggagcaga ggtacgtgta tgctcaggtg
      661 gcccggtact gcaaccgctc agcagacctc attcccttgt cctttgtatt gggtttctat
      721 gtgactctcg tggtgaaccg ctggtggtcc cagtacacaa gcatcccgct gccagaccag
      781 ctgatgtgcg tcatctcggc tagcgtgcac ggcgtggacc agcggggccg cctgctgcgc
      841 cgcaccctca tccgctacgc gaacctggcg tccgtgctgg tgctgcgctc ggtcagcacc
      901 cgcgtgctta agcgcttccc caccatggag cacgtggtgg acgcaggttt catgtcccag
      961 gaagagagga aaaagtttga gagcctgaaa tccgacttca acaagtactg ggtcccctgc
     1021 gtctggttca ccaacctggc ggcccaggcc cggagggacg ggcgaatacg tgacgatatc
     1081 gctctctgtc tacttttgga agagctgaac aagtaccgag ccaagtgcag catgctattc
     1141 cactatgact ggatcagcat ccccctcgtc tacacccaag tggtgaccat agccgtctac
     1201 tctttctttg ccctctccct ggttggccgc cagtttgtgg agccagaggc aggggctgcc
     1261 aaacctcaga agcttctgaa gccaggccag gagccagccc cagccctggg agacccggac
     1321 atgtacgtgc ctctcaccac tctgctgcag ttcttcttct atgctggctg gctcaaggtg
     1381 gctgaacaga tcatcaaccc atttggtgag gatgatgacg actttgagac aaatcagctc
     1441 atagaccgca acttgcaggt gtccctgcta tccgtggacg aaatgtacca gaaccttccc
     1501 cccgctgaga aggaccagta ctgggatgag gaccagccgc agccacccta cactgtggcc
     1561 acggcggccg agtctctgcg gccctcattc ctgggctcca ccttcaacct gcgcatgagc
     1621 gacgaccctg agcagagcct gcaggtggag gcgtcccccg gatctggtcg gcccgcgccc
     1681 gccgcgcaga ccccgttgct cggccgcttc ctgggcgtag gggcgccctc cccggccatc
     1741 agcctccgga acttcggccg cgtgcgaggc accccccgcc ccccgcatct gctgcgcttc
     1801 cgggcggagg agggcggcga ccccgaggcc gcagcccgca tcgaggagga atcggcggag
     1861 tccggggacg aggccctgga gccctgaggt ctcgcctgcc cccgcccggt ttcccccacc
     1921 cactgccctc cttccctccc gtgcccggtc ctgccagcca gctctattag agcagctttt
     1981 cctgtgtgcc ttgaaggcca gagcatttag ggacagaact tgaaagagaa gatggcgaaa
     2041 agggcctgag ccagggctgg gaatgtgtcc actttggtgg gagagaaggt cggttgcttg
     2101 ggggacgtga agctagaaaa ataaatgagc ccaggcatag aggactagag cccaggtgca
     2161 cggttagctt cacagcaaca gggagctagg ccattggttc tcaaacttaa ggaaggatca
     2221 gcatcacgga aggtcttgtc aaaagagtgc tgggcaccac tcccagcatt tctggcacgt
     2281 tagatttggg atggcgccca ataacttgca tttctaacaa gttcccaggt gatgctgtgc
     2341 tgcttgtcca ggaaacacaa tttgagagtc atgtgaaacg tgcttgaagg ggtatacctt
     2401 accctggtaa ccttactcaa aagaagggtc agtgtgtgct gggggacttt tgccttgttt
     2461 gtaatgttaa agtttttgtt tacattgaga atatattcaa gtttttgttt aa
//
