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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BEST2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 54831 Official gene symbol BEST2 Full name bestrophin 2 Aliases ,FLJ20132,VMD2L1, Gene 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] Location Chromosome: 19   Locus: 19p13.2 Gene position 12863407 - 12869272  Map Viewer Gene orientation plus Gene size 5866 bp Gene sequence >BEST2:4126209..4132074:Length=5866 ATGACCGTCACCTACACAGCCCGAGTGGCGAACGCCCGCTTCGGTGGCTTCTCCCAGCTG CTGCTACTGTGGCGTGGGAGCATCTACAAACTCCTGTGGCGAGAGCTGCTCTGCTTCCTT GGGTTCTACATGGCGCTGAGTGCTGCCTACCGGTGAGGCTGCCCTGAGGTGCTCATGTTC TAGCGGAGGGGGGGCAGCTATTATATATATATAATATATAAAAATTATAAAAATATAGAG ATATATAAGTATATATATCTATGTTTTTTAAACTGAGATGGAGTCTCACTCTGTCACCCA GGCTGGAGTGCAGTGGCATAATCTTCTCTTACTTCCACCTCTGCCTCCCGGGTTCAAGCG ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATGGGTGCCAGCCACCATGCCTGGC TAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAA ACTTCTGACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT GACCCATAGCACCCGGCTGGGGGCAGCTATTATAAAAGAAGCCAGGGTGAGGGGCACAGC AAGAGAGATCTGAAGCTGGGGATGGAGTCACCCTTGTGACCTGTGACCCCTCATCTCTAT CCCGCAGCTTTGTGCTGACCGAAGGGCAGAAGCGCTACTTCGAGAAGCTTGTGATTTATT GTGACCAGTATGCCAGCCTCATCCCTGTCTCCTTCGTGCTTGGTGCGGTCCAACCCCAAG TCCCCCGTTCCCATGTCCCTGAGAAACCCATATCCATTCATGCCTTTTGAGGAGCCCCCA TTCCTGCCCCTCTGAGATCCCCCCCCTCAAATCCAACCCCGACAGCACTGCCCACCCATT TTTGGATCCATATCATGAAGATGCCAGATGTGGCTCTACACTCTGAGACCTGGGGTGTCA CCTGGGGTCACAGTGCCCCCTGAGGTGCCCCCAGGAGAGCTCCATCTCACACACAGGACT TATTCCTGGTCACCCTGGGGATTCTCACCAGTGTCTGTTGTGTTATTAGGGGGGACAAAC CCCTAACCCTCCAGGGACCCCATAGGACTCCATCCTCTCAATTCCAGCCTGGGGGCATTT CTCTGACAAGTCTTGGACCCCTAGTGACCACAAGTGACCCTAGCCTGCCCAAGGCTCCCT GATGTAGACCCTGTCCCCAACCCCTTCAGAAGTTCCTGGCTCAGGGGCCGGGTGTGGCTA CTGTGACAAGCCTGACCAGATGTCTCTGATGTACACCCCCACAAACCAGGCCCCTCTCCC CTTGTTTTAGGTCCCTATGCCTTCACAGCAAGCAACAGTCTGCCCACGTGCCCCTAACAT GGGCTCTGTGCCTCTATCCCCATACTGGGATCCCAATGTCACATCTGAGGTGACTCCCAA GTAGCCAGTGACCCAAAGGGCTGCTCTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGATGGAGTCTCGCTCTGTTGCCCAAGCTGGAGTGCAATGGTGCGATCTCAGCTCACT GCAACCTCCGCCTCCCGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAATAGCTGAGA CTACAGGTGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCAC CATGCTGGTCAGGCTGGTCTCAAACTCCTGACCTCATGATCCACCCTCCTCAGCCTCCCA AGGAGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAACTGTCCTTTCTGACCTCAGG GCTGGACCCCCAAGTTCCCAGCCCAAACGTGGTCAGGTTGGCCAGCACGCTCGGGTTTCC CTGATGCAGACCTTACGTTGCCCCCTCTCCCACAACCTGGGCCCCCAAACCCCTGGCCCT GGTGTCCCCACTGAGCCCCCATTCCCCGCTCCCCTGCAGGCTTTTATGTGACGCTGGTGG TGAACCGCTGGTGGAGCCAGTACCTATGCATGCCGCTGCCCGACGCGCTCATGTGCGTGG TGGCGGGCACCGTGCACGGACGCGACGACCGCGGCCGCCTCTACCGGCGCACACTCATGC GCTACGCAGGGCTCTCGGCCGTGCTCATCCTGCGCTCCGTCAGCACCGCGGTGTTCAAGC GCTTCCCCACCATAGACCACGTGGTGGAGGCTGGTGAGTACTCGGCCAGAGGCAGGGCAG AGACCGGGCAAGGACCAGGTGGAGGGGGGCAAGGGGCGAGCTATCCCTGACCCCTTTCCT CCAGGGTTTATGACCCGCGAGGAGCGCAAGAAGTTTGAAAACCTGAACTCATCCTACAAC AAGTACTGGGTGCCCTGCGTCTGGTTCTCCAACCTGGCGGCACAGGCCCGACGCGAGGGC CGCATCCGCGACAACAGCGCCCTTAAGCTGCTGCTCGAGGTGGGCCCAACCAGGAGGTCA TTCATATAGAATACCAGGGAAATTGTACCCCTGGAGCTGTGTCAACGGCGGCCCTCCAAG CACCCCCACGAGGCCGATTTCAAACACCCTCACCAGGTGCACTCTTACCTCCATGGGGCT GATTCCAATGCCCTTGAGGGGCAGCTCCTGGGTGCATGGTACCTCATCCAGGTGCACACT CACCACCAAATACCCTCCCTGGAACCCCCAAAGCACACTCCCAATTCCCACCAGGTGACC ACCCACCTCCATCCCACGTACCTACACTTAATATCCCTGTGTGAGCTCACCATTCAGGCC TCCTCATGACCTGTATCCACCCCCAGGAGCTGAATGTTTTTCGGGGCAAATGTGGAATGC TCTTTCACTATGACTGGATTAGCGTACCCCTCGTGTACACGCAGGTAACCCCATCATGCC TCTTTTTATATTCGGTGTCAGTGGCCCTGATGCCTGGTTTCCAAGGGGAAACCAAGAACT AGCTAAGACCCCCATCATAATGATGCCTAATCCTAGCCTTGGACCCCAATGACCCCCCTG AGCCCTGCCCCGCCCTGCCCAGGTGGTGACCATCGCACTGTACAGCTACTTCCTGGCTTG CCTCATTGGTCGCCAGTTCCTGGACCCGGCTCAGGGTTACAAAGACCACGACCTAGACCT GTGTGTGCCCATCTTCACCCTCTTGCAGTTCTTCTTCTACGCCGGCTGGCTCAAGGTAGG TGGGTGATCCAGGCTGGAATTTCGTGGGTGGGGCGGGCATGGGGTTCCCAAGTTTCCACC TAACTGCTCCCTCTCCTCTCAGGTAGCTGAGCAGCTCATCAACCCCTTCGGAGAGGACGA TGATGACTTTGAGACCAACTTTCTGATCGATAGAAACTTCCAGGTGAGACTCAGTTTCCA GGTGAGACTTCCAGGTGGCGACCATCCCGGAGTGCCCAACAGGGTTCTGGTCCCACCCCT GCCAAGTCTTGCCAGGTCTCACCCCAACCATCCTTCCCTCTGTGGTCCCCACCCACCCGA AGGGGTCCACCCTGTGGTCCCGGCGGGTTGCCCTGCCCCCACTTTACCCTGTGTGTTTGC ACCCGTAGGTGTCCATGCTGGCAGTGGACGAGATGTATGATGACCTGGCTGTGCTGGAGA AGGACTTGTACTGGGATGCAGCCGAGGCTCGCGCCCCATACACAGCGGCTACTGTCTTCC AGCTGCGGCAGCCTTCCTTCCAGGGCTCCACCTTTGACATCACGTGAGCCAGTTGGGTGG GCAGGGCCGCCTGGGGCAGGGCTTATGGCTCTGCGGGGCACATCTGATTGAAAAGGTTAA GTGGAATCAATTCTGGAGATGGGGATAAGAGCTAAAGTCTCAGGACTGTGATAACGCCAG AAGCTAAGATAGGAGTCAGGGGACAAGGTCAAGGTCTGAGACTGGGCCACTGACTGGGGA CAGAGCTAAGGGCTGAGGTCAGCGAGGATCAGACCGGTCAGTGGTGATTCCAAAGGAGAT GAGGGCTGAGGCCAGGAGCACTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAG GCAGGAGGATCCTTTGAGCAAGCCCAGGAGTTCAGACCAGCCTGGGCAACATAGTGAGAC CCCCGTCTCTACTAAAAATAAAAAATTAGCCAAGCGTGGTGGTGCACGCCTGTAGTCCCA GCTATTCAGGGGCTGAGGTGGGAGGATTGCTTGAGTCGAGGAGTTCGAGGCTGCAGTGAG CCATAATGACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGAGCCTGTCTCAAAAAAT GAAAATAAAGGCCAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAG GCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCT GTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCTA ATCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCG AGATTGCGCCATTGCACTCCAGCCTGGGCCACAAGAGTAAAACTGCATTTCAAAACATAA AAATAGGCCGGGTGCGGTGGCTCACGCCAAGGTGGGCAGATCACGAGGTCAGGGGTTAGA GACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGT GTGGTGGCACGCACCTGTAGTCGCAGGTACTCAGGAGGCTGAGACAGGAGAATCGCTTGA ACCCGGGAGGCGAAGGTTGTGGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGCAA CAGAGCGAGACTCCGTCTCAAAATAAAATAAAATAAAATAAAAATAAAAAAGGAAATGGG GCTGAGCCACGACTGAGGTTGAAGATCCAAGTTGAAGTGCAAACACAGGGTGAGGCCAGG CTCTGGGTTTAGGAGCTAAGATCTTTGGGGATAAGTGGGACAAAGCGGTGGGTGGAGTCA GGGAAATCAGCGCGCCTGGGACCCTGCTCTGTCAACAAGAGGCGAGGCCGCAGCGCTGGC CCACTGTCGGTCCCGCAGGCTGGCCAAAGAAGACATGCAGTTCCAGCGGCTGGACGGCTT GGATGGACCGATGGGAGAGGCGCCCGGCGACTTCCTGCAGCGCCTCCTGCCGGCGGGCGC GGGCATGGTCGCGGGAGGCCCGCTGGGCCGGCGCCTGTCCTTTCTACTCCGCAAGAACAG CTGCGTGTCGGAGGCGTCTACTGGGGCCAGCTGCTCATGCGCGGTTGTCCCCGAAGGCGC GGCCCCGGAGTGCAGCTGCGGGGACCCGCTGCTCGACCCCGGCCTGCCGGAGCCCGAGGC CCCGCCCCCTGCGGGTCCCGAACCGCTTACCCTCATCCCTGGGCCTGTCGAGCCCTTCAG CATCGTGACCATGCCCGGGCCCCGGGGTCCGGCGCCACCCTGGCTGCCCAGCCCTATTGG CGAGGAGGAGGAGAATCTGGCCTGAGATCTTAGAGCCCAGCCCCCTAAGGACAGGGAACC AGGTCCCTGCACGGCACCCACGCAGGTGTCCCGGTCTGCATAAGCCTCGTGTGCCTTTGT AAAGTCCACCTACACTTTTGACCAGCTCTCGCTGCCCGCATGTGTTTGGCGCTGTGCTAG GGGCGGGAGTTCTTCCAGACTCTTGGACCAGCCCGCCCTGACCACCAGCTCTACTTCCCA ACCCCCACTGCCTGAGAGGTCTCTATCAGTGTCCTGCCTGAATTCTTTCCTTCAAGTGAA GATGTGACTGACTACCTCCTCGAGTTGTCATGAGGATGAAAGAATGGCATTAAAGCATTT GGTATACAGTAGGTGCTCAATAAATTGCTAGTGATTTTTACTCAAA OMIM ID 607335