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Aliases for BEST4 Gene

Aliases for BEST4 Gene

  • Bestrophin 4 2 3 5
  • Vitelliform Macular Dystrophy 2-Like Protein 2 3 4
  • Vitelliform Macular Dystrophy 2-Like 2 2 3
  • Bestrophin-4 3 4
  • 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 and Bestrophinopathy. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST2.

UniProtKB/Swiss-Prot for BEST4 Gene

Additional gene information for BEST4 Gene

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

Genomics for BEST4 Gene

GeneHancer (GH) Regulatory Elements for BEST4 Gene

Promoters and enhancers for BEST4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J044792 Enhancer 0.9 ENCODE 612 -0.7 -716 1.2 ELF3 CC2D1A CTCF ZNF121 ZNF384 PRDM1 RAD21 KAT8 CREB1 PKNOX1 BEST4 UROD PLK3
GH01J044788 Promoter 0.7 EPDnew 600.7 +4.6 4638 0.1 ZNF600 ZBTB20 ZBTB17 BEST4 RPS15AP11
GH01J044791 Enhancer 0.7 Ensembl 600.7 +1.2 1246 1.2 ZNF121 SP7 SMARCA4 DPF2 IKZF1 ZSCAN4 PKNOX1 HDAC1 MTA2 SOX6 BEST4 RPS8 RNU5E-6P PTCH2 UROD RPS15AP11
GH01J044798 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.3 -9.0 -8976 6.3 SP1 CC2D1A ELF3 ZFX MNT CBFA2T2 ZNF148 NKRF POLR2A MLLT1 PLK3 NASP MUTYH RPS8 TOE1 DMAP1 BEST4 ZSWIM5 ARTN BTBD19
GH01J044805 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 11.8 -17.6 -17623 10.7 CC2D1A SP1 ZFX ELF3 ZKSCAN8 MNT ZNF148 NKRF MLLT1 ZNF121 TOE1 GPBP1L1 RPS8 HECTD3 MUTYH ENSG00000234329 RPS15AP10 ENSG00000225721 UROD BEST4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BEST4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BEST4 gene promoter:
  • AP-1
  • ATF-2
  • ATF6
  • c-Jun
  • GR
  • GR-alpha
  • LyF-1
  • Nkx2-5
  • Pax-4a

Genomic Locations for BEST4 Gene

Genomic Locations for BEST4 Gene
10,784 bases
Minus strand
4,170 bases
Minus strand

Genomic View for BEST4 Gene

Genes around BEST4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEST4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for BEST4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BEST4 Gene

No data available for DME Specific Peptides for BEST4 Gene

Domains & Families for BEST4 Gene

Gene Families for BEST4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for BEST4 Gene

Suggested Antigen Peptide Sequences for BEST4 Gene

GenScript: Design optimal peptide antigens:
  • Vitelliform macular dystrophy 2-like protein 2 (BEST4_HUMAN)

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.

Phenotypes From GWAS Catalog for BEST4 Gene

Gene Ontology (GO) - Molecular Function for BEST4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005254 chloride channel activity IBA 21873635
genes like me logo Genes that share ontologies with BEST4: view
genes like me logo Genes that share phenotypes with BEST4: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for BEST4 - Now 50% OFF >
  • * BEST4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BEST4 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BEST4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for BEST4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IBA 21873635
genes like me logo Genes that share ontologies with BEST4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BEST4 Gene

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:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0008150 biological_process ND --
GO:1902476 chloride transmembrane transport IEA --
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

(2) Drugs for BEST4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7611
Chloride ion Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 463-79-6
genes like me logo Genes that share compounds with BEST4: view

Transcripts for BEST4 Gene

mRNA/cDNA for BEST4 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for BEST4 Gene

Bestrophin 4:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for BEST4 - Now 50% OFF >
  • * BEST4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BEST4 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for BEST4 Gene

Protein tissue co-expression partners for BEST4 Gene

NURSA nuclear receptor signaling pathways regulating expression of BEST4 Gene:


SOURCE GeneReport for Unigene cluster for BEST4 Gene:


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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia BEST4 35 34
  • 99.65 (n)
(Canis familiaris)
Mammalia BEST4 35 34
  • 89.92 (n)
(Bos Taurus)
Mammalia BEST4 35 34
  • 89.58 (n)
(Rattus norvegicus)
Mammalia Best4 34
  • 82.59 (n)
(Monodelphis domestica)
Mammalia BEST4 35
  • 74 (a)
(Gallus gallus)
Aves BEST4 35 34
  • 77.98 (n)
(Anolis carolinensis)
Reptilia BEST4 35
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia best4 34
  • 66.44 (n)
(Danio rerio)
Actinopterygii best4 35 34
  • 65.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta Best4 35 34
  • 54.18 (n)
Best3 35
  • 33 (a)
Best1 35
  • 25 (a)
Best2 35
  • 23 (a)
(Caenorhabditis elegans)
Secernentea best-23 35
  • 37 (a)
best-2 35
  • 34 (a)
best-21 35
  • 34 (a)
best-14 35
  • 33 (a)
best-18 35
  • 31 (a)
best-1 35
  • 31 (a)
best-9 35
  • 30 (a)
best-5 35
  • 30 (a)
best-6 35
  • 30 (a)
best-15 35
  • 29 (a)
best-22 35
  • 29 (a)
best-13 35
  • 29 (a)
best-10 35
  • 28 (a)
best-16 35
  • 28 (a)
best-19 35
  • 27 (a)
best-7 35
  • 27 (a)
best-3 35
  • 27 (a)
best-4 35
  • 27 (a)
best-8 35
  • 26 (a)
best-17 35
  • 26 (a)
best-20 35
  • 26 (a)
best-26 35
  • 26 (a)
best-24 35
  • 25 (a)
best-12 35
  • 24 (a)
best-11 35
  • 23 (a)
best-25 35
  • 21 (a)
C09B9.85 35
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
Species where no ortholog for BEST4 was found in the sources mined by GeneCards:
  • 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)
  • mouse (Mus musculus)
  • 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)
Evolutionary constrained regions (ECRs) for BEST4: view image

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 Variation AA Info Type
rs1000240950 -- 44,783,661(-) C/A 3_prime_UTR_variant, intron_variant
rs1000354138 -- 44,791,731(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000575768 -- 44,789,312(-) A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000806339 -- 44,792,927(-) T/C upstream_transcript_variant
rs1000808627 -- 44,792,032(-) C/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv461406 CNV loss 19166990
nsv546145 CNV loss 21841781
nsv998871 CNV loss 25217958

Variation tolerance for BEST4 Gene

Residual Variation Intolerance Score: 32.9% 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)

Additional Variant Information for BEST4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for BEST4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
vitelliform macular dystrophy
  • best macular dystrophy
  • bestrophinopathy, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search BEST4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BEST4

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. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. (PMID: 12032738) Stöhr H … Weber BH (European journal of human genetics : EJHG 2002) 2 3 4 58
  2. Ca2+-activated Cl- current from human bestrophin-4 in excised membrane patches. (PMID: 16702355) Tsunenari T … Yau KW (The Journal of general physiology 2006) 2 3 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Structure-function analysis of the bestrophin family of anion channels. (PMID: 12907679) Tsunenari T … Nathans J (The Journal of biological chemistry 2003) 3 4 58

Products for BEST4 Gene

Sources for BEST4 Gene

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