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    BEST2 bestrophin 2 [ Homo sapiens (human) ]

    Gene ID: 54831, updated on 27-Nov-2024

    Summary

    Official Symbol
    BEST2provided by HGNC
    Official Full Name
    bestrophin 2provided by HGNC
    Primary source
    HGNC:HGNC:17107
    See related
    Ensembl:ENSG00000039987 MIM:607335; AllianceGenome:HGNC:17107
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VMD2L1
    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]
    Expression
    Restricted expression toward colon (RPKM 11.0) See more
    Orthologs
    NEW
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    Genomic context

    See BEST2 in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12751791..12758458)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12876283..12882953)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12862605..12869272)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12842300-12842847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10161 Neighboring gene CRISPRi-FlowFISH-validated RAD23A regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated TRIR regulatory element Neighboring gene telomerase RNA component interacting RNase Neighboring gene guided entry of tail-anchored proteins factor 3, ATPase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12855878-12856378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12876343-12876888 Neighboring gene hook microtubule tethering protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12881756-12882256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12882257-12882757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12885288-12885968 Neighboring gene CRISPRi-FlowFISH-validated DNASE2 and PRDX2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14077 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated JUNB and PRDX2 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated JUNB and PRDX2 regulatory element 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14079 Neighboring gene CRISPRi-FlowFISH-validated JUNB regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 3 Neighboring gene microRNA 5684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10173 Neighboring gene JunB proto-oncogene, AP-1 transcription factor subunit

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20132

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bicarbonate channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables intracellularly ligand-gated monoatomic ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ligand-gated monoatomic anion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ligand-gated monoatomic cation channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of smell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of chloride channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    bestrophin-2a
    Names
    VMD2-like gene 1
    vitelliform macular dystrophy 2-like 1
    vitelliform macular dystrophy 2-like protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_017682.3NP_060152.2  bestrophin-2a

      See identical proteins and their annotated locations for NP_060152.2

      Status: REVIEWED

      Source sequence(s)
      AC018761, AF440756, AK000139
      Consensus CDS
      CCDS42506.1
      UniProtKB/Swiss-Prot
      Q53YQ8, Q8NFU1, Q9NXP0
      Related
      ENSP00000447203.1, ENST00000553030.6
      Conserved Domains (1) summary
      pfam01062
      Location:8314
      Bestrophin; Bestrophin, RFP-TM, chloride channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      12751791..12758458
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      12876283..12882953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)