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 (bestroph... See more...

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
  • BEST4 5

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, Autosomal Recessive. 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. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST2.

UniProtKB/Swiss-Prot Summary for BEST4 Gene

Additional gene information for BEST4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BEST4 Gene

Genomics for BEST4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BEST4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 CREB1 GATAD2A CTCF REST IKZF1 ZNF692 RCOR2 JUND PRDM1 PHF21A BEST4 UROD PLK3
GH01J044791 Enhancer 0.7 Ensembl 600.7 +1.1 1146 1 IKZF1 MTA2 ZSCAN4 PKNOX1 DPF2 HDAC1 SOX6 CTBP1 FOXK2 EHMT2 BEST4 RPS8 RNU5E-6P PTCH2 UROD RPS15AP11
GH01J044788 Promoter 0.6 EPDnew 600.7 +4.6 4638 0.1 ZNF600 ZBTB20 ZBTB17 MEIS2 BEST4 RPS15AP11 RPS8
GH01J044794 Enhancer 0.4 Ensembl 600.7 -1.8 -1773 0.4 ADNP GLIS1 ZBTB33 ZNF384 BEST4 UROD PLK3
GH01J044798 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -8.9 -8938 6.3 ZNF221 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 TEAD4 PRDM10 REST PLK3 TOE1 MUTYH NASP DMAP1 GPBP1L1 RPS8 BEST4 ZSWIM5 TMEM69
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BEST4

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
chr1:44,782,145-44,792,828
(GRCh38/hg38)
Size:
10,684 bases
Orientation:
Minus strand
chr1:45,249,257-45,253,426
(GRCh37/hg19)
Size:
4,170 bases
Orientation:
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:
    Q8NFU0-BEST4_HUMAN
    Recommended name:
    Bestrophin-4
    Protein Accession:
    Q8NFU0
    Secondary Accessions:
    • Q5JR93

    Protein attributes for BEST4 Gene

    Size:
    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

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for BEST4 Gene

InterPro:
Blocks:
  • Putative membrane protein, family 8
ProtoNet:

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

Q8NFU0

UniProtKB/Swiss-Prot:

BEST4_HUMAN :
  • Belongs to the bestrophin family.
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 IEA --
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEST4

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

COMPARTMENTS
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 2
mitochondrion 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 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 IEA --
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
Chloride ion Experimental Pharma 0
Calcium Nutra 6556

(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 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEST4

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

No ASD Table

Relevant External Links for BEST4 Gene

GeneLoc Exon Structure for
BEST4

Expression for BEST4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BEST4

SOURCE GeneReport for Unigene cluster for BEST4 Gene:

Hs.302513

mRNA Expression by UniProt/SwissProt for BEST4 Gene:

Q8NFU0-BEST4_HUMAN
Tissue specificity: Predominantly found in colon and the weakly in fetal brain, spinal cord, retina, lung, trachea, testis and placenta.

Evidence on tissue expression from TISSUES for BEST4 Gene

  • Intestine(2.2)
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 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
Chimpanzee
(Pan troglodytes)
Mammalia BEST4 30 31
  • 99.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BEST4 30 31
  • 89.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BEST4 30 31
  • 89.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Best4 30
  • 82.59 (n)
Oppossum
(Monodelphis domestica)
Mammalia BEST4 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BEST4 30 31
  • 77.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BEST4 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia best4 30
  • 66.44 (n)
Zebrafish
(Danio rerio)
Actinopterygii best4 30 31
  • 65.85 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Best4 30 31
  • 54.18 (n)
ManyToMany
Best3 31
  • 33 (a)
ManyToMany
Best1 31
  • 25 (a)
ManyToMany
Best2 31
  • 23 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea best-23 31
  • 37 (a)
ManyToMany
best-2 31
  • 34 (a)
ManyToMany
best-21 31
  • 34 (a)
ManyToMany
best-14 31
  • 33 (a)
ManyToMany
best-18 31
  • 31 (a)
ManyToMany
best-1 31
  • 31 (a)
ManyToMany
best-9 31
  • 30 (a)
ManyToMany
best-5 31
  • 30 (a)
ManyToMany
best-6 31
  • 30 (a)
ManyToMany
best-15 31
  • 29 (a)
ManyToMany
best-22 31
  • 29 (a)
ManyToMany
best-13 31
  • 29 (a)
ManyToMany
best-10 31
  • 28 (a)
ManyToMany
best-16 31
  • 28 (a)
ManyToMany
best-19 31
  • 27 (a)
ManyToMany
best-7 31
  • 27 (a)
ManyToMany
best-3 31
  • 27 (a)
ManyToMany
best-4 31
  • 27 (a)
ManyToMany
best-8 31
  • 26 (a)
ManyToMany
best-17 31
  • 26 (a)
ManyToMany
best-20 31
  • 26 (a)
ManyToMany
best-26 31
  • 26 (a)
ManyToMany
best-24 31
  • 25 (a)
ManyToMany
best-12 31
  • 24 (a)
ManyToMany
best-11 31
  • 23 (a)
ManyToMany
best-25 31
  • 21 (a)
ManyToMany
C09B9.85 31
  • 21 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for BEST4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for BEST4 (if available)
TreeFam:
Gene Tree for BEST4 (if available)
Aminode:
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:

  • BEST4_HUMAN
genes like me logo Genes that share paralogs with BEST4: view

Variants for BEST4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BEST4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
775547 Benign: not provided 44,787,454(-) G/C SYNONYMOUS_VARIANT
rs16832239 - p.Arg402Leu
rs16832241 - p.Gln331Glu
rs16832242 - p.Tyr217Ser
rs16832245 - p.Tyr62Cys

Additional dbSNP identifiers (rs#s) for BEST4 Gene

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
BEST4

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

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

Disorder Aliases PubMed IDs
vitelliform macular dystrophy
  • best macular dystrophy
bestrophinopathy, autosomal recessive
  • arb
vitreoretinochoroidopathy
  • vrcp
hereditary retinal dystrophy
  • hereditary retinal dystrophies
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search BEST4 in MalaCards View complete list of genes associated with diseases
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
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. 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
  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
  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

Products for BEST4 Gene

Sources for BEST4 Gene