BEST4 Gene
protein-coding GIFtS: 47
GCID: GC01M045249
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bestrophin 4(Previous name: vitelliform macular dystrophy 2-like 2 )
(Previous symbol: VMD2L2)
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Aliases
for BEST4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Bestrophin 41 2 | | VMD2L21 2 3 5 | | Vitelliform Macular Dystrophy 2-Like 21 2 | | Vitelliform Macular Dystrophy 2-Like Protein 22 3 | | Bestrophin-41 |
Export aliases for BEST4 gene to outside databasesPrevious GC identifers: GC01M045022 GC01M043362 |
Summaries
for BEST4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BEST4:
This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structurewith highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins thatcontain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one ofthe family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene ispredominantly expressed in the colon. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: BEST4_HUMAN, Q8NFU0Function: Forms calcium-sensitive chloride channels. Permeable to bicarbonate
|
Genomic Views
for BEST4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BEST4 gene promoter:
GR AP-1 ATF-2 Nkx2-5 c-Jun GR-alpha LyF-1 Pax-4a ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for BEST4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEST4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p33-p32.3 Ensembl cytogenetic band: 1p34.1 HGNC cytogenetic band: 1p33-p32.3BEST4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M045249: view genomic region
(about GC identifiers)
Start:
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45,249,257 bp from pter |
End:
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45,253,426 bp from pter |
Size:
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4,170 bases |
Orientation:
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minus strand |
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Proteins
for BEST4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BEST4_HUMAN, Q8NFU0 (See
protein sequence)Recommended Name: Bestrophin-4 Size: 473 amino acids; 53497 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: Q5JR93Explore the universe of human proteins at neXtProt for BEST4: NX_Q8NFU0
BEST4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_695006.1
ENSEMBL proteins: ENSP00000361281 Reactome Protein details: Q8NFU0
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005886 | plasma membrane |
IEA | -- | | GO:0034707 | chloride channel complex |
IEA | -- |
BEST4 for ontologies About GeneDecksing
BEST4 Antibody Products:
Assay Products for BEST4: |
Protein
Domains /
Families
for BEST4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BEST4 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8NFU0ProtoNet protein and cluster: Q8NFU0 1 Blocks protein family: IPB000615 Putative membrane protein
UniProtKB/Swiss-Prot: BEST4_HUMAN, Q8NFU0Similarity: Belongs to the bestrophin family |
Function
for BEST4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BEST4_HUMAN, Q8NFU0Function: Forms calcium-sensitive chloride channels. Permeable to bicarbonate
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEST4
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEST4 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BEST4 (NM_153274) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BEST4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEST4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST4 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | | GO:0005254 | chloride channel activity |
IEA | -- |
BEST4 for ontologies About GeneDecksing
|
Pathways & Interactions
for BEST4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Ion channel transport | | | 2 | SLC-mediated transmembrane transport | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 
Reactome Pathways for BEST4
BEST4 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BEST4
1 Interacting protein for BEST4 (Q8NFU02) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
BEST4 for ontologies About GeneDecksing
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Drugs & Compounds
for BEST4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BEST4
3 HMDB Compounds for BEST4 About this table
Search CenterWatch for drugs/clinical trials and news about BEST4
|
Transcripts
for BEST4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BEST4 gene: NM_153274.2 Unigene Cluster for BEST4: Bestrophin 4 Hs.302513 [show with all ESTs]Unigene Representative Sequence: NM_1532741 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000372207(uc001cmm.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEST4
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEST4 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: BEST4 (NM_153274) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BEST4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEST4 |
Additional cDNA sequence: AF440757.1 AY515707.1 BC101823.1 2 DOTS entries: DT.97811122 DT.95090366 18 AceView cDNA sequences: AF440757 BM982532 AY515707 NM_153274 CK820249 BI762068 BM142500 CK820250 BM142321 AW084499 BM717327 BQ028310 AV695179 BG979926 AW117683 AI307756 BF799085 BF799082
GeneLoc Exon Structure
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Expression
for BEST4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BEST4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAAACGTGC
About this image
See BEST4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BEST4
SOURCE GeneReport for Unigene cluster: Hs.302513
UniProtKB/Swiss-Prot: BEST4_HUMAN, Q8NFU0Tissue specificity: Predominantly found in colon and the weakly in fetal brain, spinal cord, retina, lung, trachea,testis and placenta
SABiosciences Custom PCR Arrays for BEST4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BEST4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat BEST4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BEST4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEST4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST4 |
Orthologs
for BEST4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for BEST4 gene from 5/14 species (see all 14) About this table
ENSEMBL Gene Tree for BEST4 (if available)
TreeFam Gene Tree for BEST4 (if available) |
Paralogs
for BEST4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BEST4 gene
- BEST22 BEST12 BEST32
3 SIMAP similar genes for BEST4 using alignment to 1 protein entry: BEST4_HUMAN:BEST3 BEST2 BEST1
BEST4 for paralogs About GeneDecksing
|
Genomic Variants
for BEST4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BEST4 (45249257 - 45253426 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BEST4: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BEST4 |
|
Disorders
/ Diseases
for BEST4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BEST4 for disorders About GeneDecksing
OMIM gene information: 607336
OMIM disorders: --
4  diseases for BEST4: About MalaCardsvitelliform macular dystrophy macular dystrophy patau syndrome pancreatitis
1 disease from the University of Copenhagen DISEASES database for BEST4:Vitelliform macular dystrophy Export disorders for BEST4 gene to outside databases
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Publications
for BEST4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BEST4 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with BEST4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. (PubMed id 12032738)1, 2, 3 Stoehr H.... Weber B.H.F. (2002)
- Ca2+-activated Cl- current from human bestrophin-4 in excised membrane patches. (PubMed id 16702355)1, 3 Tsunenari T....Yau K.W. (2006)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Structure-function analysis of the bestrophin family of anion channels. (PubMed id 12907679)1, 2 Tsunenari T....Nathans J. (2003)
- Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1. (PubMed id 19237432)1 Marsey L.L. and Winpenny J.P. (2009)
- Bestrophin Cl- channels are highly permeable to HCO3-. (PubMed id 18400985)2 Qu Z. and Hartzell H.C. (2008)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). (PubMed id 9700209)1 Marquardt A....Weber B.H.F. (1998)
- Activation of bestrophin Cl- channels is regulated by C-terminal domains. (PubMed id 17442670)9 Qu Z.Q....Hartzell C. (2007)
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External Searches for BEST4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing BEST4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BEST4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BEST4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BEST4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for BEST4 gene:
Search GeneIP for patents involving BEST4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BEST4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for BEST4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BEST4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BEST4 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BEST4 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEST4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEST4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for BEST4 | | OriGene Custom Protein Services for BEST4 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BEST4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BEST4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEST4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BEST4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEST4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BEST4 |
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 |  |  |  | |
| | | | Search Tocris compounds for BEST4 |
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 | | | BEST4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST4 |
|  |  |  | | | | Search ThermoFisher Antibodies for BEST4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEST4 |
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