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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
  • 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 Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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

Enhancers for BEST4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BEST4 on UCSC Golden Path with GeneCards custom track

Genomic Location for BEST4 Gene

Chromosome:
1
Start:
44,782,045 bp from pter
End:
44,792,828 bp from pter
Size:
10,784 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

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:

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

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.
genes like me logo Genes that share phenotypes with BEST4: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BEST4 Gene COMPARTMENTS Subcellular localization image for BEST4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components 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

None

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
16887-00-6
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
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:

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

No ASD Table

Relevant External Links for BEST4 Gene

GeneLoc Exon Structure for
BEST4
ECgene alternative splicing isoforms for
BEST4

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

Q8NFU0-BEST4_HUMAN
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

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
cow
(Bos Taurus)
Mammalia BEST4 35
  • 89.58 (n)
  • 91.86 (a)
BEST4 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BEST4 35
  • 89.92 (n)
  • 90.91 (a)
BEST4 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BEST4 35
  • 99.65 (n)
  • 100 (a)
BEST4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Best4 35
  • 82.59 (n)
  • 86 (a)
oppossum
(Monodelphis domestica)
Mammalia BEST4 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves BEST4 35
  • 77.98 (n)
  • 78.51 (a)
BEST4 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BEST4 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia best4 35
  • 66.44 (n)
  • 71.59 (a)
zebrafish
(Danio rerio)
Actinopterygii best4 35
  • 65.85 (n)
  • 67.48 (a)
best4 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Best4 35
  • 54.18 (n)
  • 51.01 (a)
Best1 36
  • 25 (a)
ManyToMany
Best2 36
  • 23 (a)
ManyToMany
Best3 36
  • 33 (a)
ManyToMany
Best4 36
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea best-1 36
  • 31 (a)
ManyToMany
best-10 36
  • 28 (a)
ManyToMany
best-11 36
  • 23 (a)
ManyToMany
best-12 36
  • 24 (a)
ManyToMany
best-13 36
  • 29 (a)
ManyToMany
best-14 36
  • 33 (a)
ManyToMany
best-15 36
  • 29 (a)
ManyToMany
best-16 36
  • 28 (a)
ManyToMany
best-17 36
  • 26 (a)
ManyToMany
best-18 36
  • 31 (a)
ManyToMany
best-19 36
  • 27 (a)
ManyToMany
best-2 36
  • 34 (a)
ManyToMany
best-20 36
  • 26 (a)
ManyToMany
best-21 36
  • 34 (a)
ManyToMany
best-22 36
  • 29 (a)
ManyToMany
best-23 36
  • 37 (a)
ManyToMany
best-24 36
  • 25 (a)
ManyToMany
best-25 36
  • 21 (a)
ManyToMany
best-26 36
  • 26 (a)
ManyToMany
best-3 36
  • 27 (a)
ManyToMany
best-4 36
  • 27 (a)
ManyToMany
best-5 36
  • 30 (a)
ManyToMany
best-6 36
  • 30 (a)
ManyToMany
best-7 36
  • 27 (a)
ManyToMany
best-8 36
  • 26 (a)
ManyToMany
best-9 36
  • 30 (a)
ManyToMany
C09B9.85 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
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)
  • 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

ENSEMBL:
Gene Tree for BEST4 (if available)
TreeFam:
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
rs16832245 - 44,787,434(+) GAGCA(C/T)ACACG nc-transcript-variant, reference, missense
rs16832242 - 44,785,663(+) CTCGG(G/T)ACTTG nc-transcript-variant, reference, missense
rs16832241 - 44,784,907(+) CACCT(C/G)CAAGT nc-transcript-variant, reference, missense
rs16832239 - 44,784,427(+) CGGGC(A/C)GACCA nc-transcript-variant, reference, missense
rs4542248 -- 44,783,250(+) GTGCC(C/G)AGCCA intron-variant, downstream-variant-500B

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: 32.9% 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)

Relevant External Links for BEST4 Gene

HapMap Linkage Disequilibrium report
BEST4

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 disease
- elite association - COSMIC cancer census association via MalaCards
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:
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) Stoehr H. … Weber B.H.F. (Eur. J. Hum. Genet. 2002) 2 3 4 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 3
  3. Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells. (PMID: 24223998) Ito G. … Watanabe M. (PLoS ONE 2013) 3
  4. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PMID: 20467438) Arbuckle M.I. … Grant S.G. (EMBO Rep. 2010) 3
  5. Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1. (PMID: 19237432) Marsey L.L. … Winpenny J.P. (J. Physiol. (Lond.) 2009) 3

Products for BEST4 Gene

Sources for BEST4 Gene

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