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Aliases for BEST4 Gene

Aliases for BEST4 Gene

  • Bestrophin 4 2 3
  • Vitelliform Macular Dystrophy 2-Like Protein 2 3 4
  • Vitelliform Macular Dystrophy 2-Like 2 2 3
  • VMD2L2 3 4

External Ids for BEST4 Gene

Previous HGNC Symbols for BEST4 Gene

  • VMD2L2

Previous GeneCards Identifiers for BEST4 Gene

  • GC01M045022
  • GC01M045249
  • GC01M043362

Summaries for BEST4 Gene

Entrez Gene Summary for BEST4 Gene

  • 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]

GeneCards Summary for BEST4 Gene

BEST4 (Bestrophin 4) is a Protein Coding gene. Diseases associated with BEST4 include vitelliform macular dystrophy. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST2.

UniProtKB/Swiss-Prot for BEST4 Gene

  • Forms calcium-sensitive chloride channels. Permeable to bicarbonate.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BEST4 Gene

Genomics for BEST4 Gene

Regulatory Elements for BEST4 Gene

Genomic Location for BEST4 Gene

44,782,045 bp from pter
44,792,828 bp from pter
10,784 bases
Minus strand

Genomic View for BEST4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BEST4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEST4 Gene

Proteins for BEST4 Gene

  • Protein details for BEST4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q5JR93

    Protein attributes for BEST4 Gene

    473 amino acids
    Molecular mass:
    53497 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BEST4 Gene

Proteomics data for BEST4 Gene at MOPED

Post-translational modifications for BEST4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BEST4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BEST4 Gene

Domains & Families for BEST4 Gene

Gene Families for BEST4 Gene

Protein Domains for BEST4 Gene

Suggested Antigen Peptide Sequences for BEST4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the bestrophin family.
  • Belongs to the bestrophin family.
genes like me logo Genes that share domains with BEST4: view

Function for BEST4 Gene

Molecular function for BEST4 Gene

UniProtKB/Swiss-Prot Function:
Forms calcium-sensitive chloride channels. Permeable to bicarbonate.

Gene Ontology (GO) - Molecular Function for BEST4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005254 contributes_to chloride channel activity IBA --
genes like me logo Genes that share ontologies with BEST4: view

Phenotypes for BEST4 Gene

GenomeRNAi human phenotypes for BEST4:
genes like me logo Genes that share phenotypes with BEST4: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BEST4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BEST4 Gene

Localization for BEST4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEST4 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for BEST4 Gene COMPARTMENTS Subcellular localization image for BEST4 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for BEST4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0005887 integral component of plasma membrane IBA --
GO:0034707 chloride channel complex IBA --
genes like me logo Genes that share ontologies with BEST4: view

Pathways & Interactions for BEST4 Gene

genes like me logo Genes that share pathways with BEST4: view

Pathways by source for BEST4 Gene

Interacting Proteins for BEST4 Gene

Gene Ontology (GO) - Biological Process for BEST4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:1902476 chloride transmembrane transport IBA --
genes like me logo Genes that share ontologies with BEST4: view

No data available for SIGNOR curated interactions for BEST4 Gene

Drugs & Compounds for BEST4 Gene

(1) Drugs for BEST4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0

(2) Additional Compounds for BEST4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
genes like me logo Genes that share compounds with BEST4: view

Transcripts for BEST4 Gene

mRNA/cDNA for BEST4 Gene

(7) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BEST4 Gene

Bestrophin 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BEST4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BEST4 Gene

No ASD Table

Relevant External Links for BEST4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BEST4 Gene

mRNA expression in normal human tissues for BEST4 Gene

mRNA differential expression in normal tissues according to GTEx for BEST4 Gene

This gene is overexpressed in Colon - Transverse (x23.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BEST4 Gene

SOURCE GeneReport for Unigene cluster for BEST4 Gene Hs.302513

mRNA Expression by UniProt/SwissProt for BEST4 Gene

Tissue specificity: Predominantly found in colon and the weakly in fetal brain, spinal cord, retina, lung, trachea, testis and placenta.
genes like me logo Genes that share expression patterns with BEST4: view

Protein tissue co-expression partners for BEST4 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues for BEST4 Gene

Orthologs for BEST4 Gene

This gene was present in the common ancestor of animals.

Orthologs for BEST4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BEST4 35
  • 89.58 (n)
  • 91.86 (a)
BEST4 36
  • 91 (a)
(Canis familiaris)
Mammalia BEST4 35
  • 89.92 (n)
  • 90.91 (a)
BEST4 36
  • 91 (a)
(Pan troglodytes)
Mammalia BEST4 35
  • 99.65 (n)
  • 100 (a)
BEST4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Best4 35
  • 82.59 (n)
  • 86 (a)
(Mus musculus)
Mammalia Best4-ps 16
(Monodelphis domestica)
Mammalia BEST4 36
  • 74 (a)
(Gallus gallus)
Aves BEST4 35
  • 77.98 (n)
  • 78.51 (a)
BEST4 36
  • 71 (a)
(Anolis carolinensis)
Reptilia BEST4 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia best4 35
  • 66.44 (n)
  • 71.59 (a)
(Danio rerio)
Actinopterygii best4 35
  • 65.85 (n)
  • 67.48 (a)
best4 36
  • 68 (a)
fruit fly
(Drosophila melanogaster)
Insecta Best4 35
  • 54.18 (n)
  • 51.01 (a)
Best1 36
  • 25 (a)
Best2 36
  • 23 (a)
Best3 36
  • 33 (a)
Best4 36
  • 36 (a)
(Caenorhabditis elegans)
Secernentea best-1 36
  • 31 (a)
best-10 36
  • 28 (a)
best-11 36
  • 23 (a)
best-12 36
  • 24 (a)
best-13 36
  • 29 (a)
best-14 36
  • 33 (a)
best-15 36
  • 29 (a)
best-16 36
  • 28 (a)
best-17 36
  • 26 (a)
best-18 36
  • 31 (a)
best-19 36
  • 27 (a)
best-2 36
  • 34 (a)
best-20 36
  • 26 (a)
best-21 36
  • 34 (a)
best-22 36
  • 29 (a)
best-23 36
  • 37 (a)
best-24 36
  • 25 (a)
best-25 36
  • 21 (a)
best-26 36
  • 26 (a)
best-3 36
  • 27 (a)
best-4 36
  • 27 (a)
best-5 36
  • 30 (a)
best-6 36
  • 30 (a)
best-7 36
  • 27 (a)
best-8 36
  • 26 (a)
best-9 36
  • 30 (a)
C09B9.85 36
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
Species with no ortholog for BEST4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BEST4 Gene

Gene Tree for BEST4 (if available)
Gene Tree for BEST4 (if available)

Paralogs for BEST4 Gene

Paralogs for BEST4 Gene

(3) SIMAP similar genes for BEST4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BEST4: view

Variants for BEST4 Gene

Sequence variations from dbSNP and Humsavar for BEST4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs4542248 -- 44,783,250(+) GTGCC(C/G)AGCCA downstream-variant-500B, intron-variant
rs4660824 -- 44,794,594(+) gaggc(A/G)gaggt upstream-variant-2KB
rs6429548 -- 44,787,956(+) TGAGG(C/T)TTCCT upstream-variant-2KB, utr-variant-5-prime, intron-variant, nc-transcript-variant
rs6690913 -- 44,788,128(+) CATAC(C/T)TGCCT upstream-variant-2KB, intron-variant
rs6698847 -- 44,792,055(+) ctgac(A/C)aacat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BEST4 Gene

Variant ID Type Subtype PubMed ID
nsv461406 CNV Loss 19166990
nsv870815 CNV Loss 21882294

Variation tolerance for BEST4 Gene

Residual Variation Intolerance Score: 32.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.35; 76.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BEST4 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BEST4 Gene

Disorders for BEST4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BEST4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
vitelliform macular dystrophy
  • best macular dystrophy
- elite association
Search BEST4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BEST4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BEST4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BEST4 Gene

Publications for BEST4 Gene

  1. Activation of bestrophin Cl- channels is regulated by C-terminal domains. (PMID: 17442670) Qu Z.Q. … Hartzell C. (J. Biol. Chem. 2007) 23 67
  2. Ca2+-activated Cl- current from human bestrophin-4 in excised membrane patches. (PMID: 16702355) Tsunenari T. … Yau K.W. (J. Gen. Physiol. 2006) 2 67
  3. Cloning and characterization of the murine Vmd2 RFP-TM gene family. (PMID: 15218265) KrAomer F. … Weber B.H. (Cytogenet. Genome Res. 2004) 23 67
  4. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. (PMID: 12032738) Stoehr H. … Weber B.H.F. (Eur. J. Hum. Genet. 2002) 2 67
  5. Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells. (PMID: 24223998) Ito G. … Watanabe M. (PLoS ONE 2013) 67

Products for BEST4 Gene

Sources for BEST4 Gene

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