BEST2 Gene
protein-coding GIFtS: 52
GCID: GC19P012864
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bestrophin 2(Previous name: vitelliform macular dystrophy 2-like 1 )
(Previous symbol: VMD2L1)
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Aliases
for BEST2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Bestrophin 21 2 | | FLJ201321 | | VMD2L11 2 3 5 | | Bestrophin-21 | | Vitelliform Macular Dystrophy 2-Like 11 2 | | VMD2-Like Gene 12 | | Vitelliform Macular Dystrophy 2-Like Protein 12 3 | | |
Export aliases for BEST2 gene to outside databasesPrevious GC identifers: GC19P012725 GC19P012436 |
Summaries
for BEST2 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 BEST2:
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 2 gene is mainlyexpressed in the retinal pigment epithelium and colon. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: BEST2_HUMAN, Q8NFU1Function: Forms calcium-sensitive chloride channels. Permeable to bicarbonate
Gene Wiki entry for BEST2
|
Genomic Views
for BEST2 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_000019.9 NC_018930.1 NT_011295.11
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BEST2 gene promoter:
Pax-5 Sp1 GCNF Pax-6 AP-2gamma Tal-1beta GCNF-1 ITF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for BEST2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEST2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.2-p13.12BEST2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P012864: view genomic region
(about GC identifiers)
Start:
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12,862,516 bp from pter |
End:
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12,869,272 bp from pter |
Size:
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6,757 bases |
Orientation:
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plus strand |
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Proteins
for BEST2 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: BEST2_HUMAN, Q8NFU1 (See
protein sequence)Recommended Name: Bestrophin-2 Size: 509 amino acids; 57139 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAA90970.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q53YQ8 Q9NXP0Explore the universe of human proteins at neXtProt for BEST2: NX_Q8NFU1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NFU1
BEST2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060152.2
ENSEMBL proteins: ENSP00000448310 ENSP00000447203 ENSP00000449403 ENSP00000042931 Reactome Protein details: Q8NFU1
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
BEST2 for ontologies About GeneDecksing
BEST2 Antibody Products:
Assay Products for BEST2: |
Protein
Domains /
Families
for BEST2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BEST2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8NFU1ProtoNet protein and cluster: Q8NFU1 1 Blocks protein family: IPB000615 Putative membrane protein
UniProtKB/Swiss-Prot: BEST2_HUMAN, Q8NFU1Similarity: Belongs to the bestrophin family |
Function
for BEST2 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: BEST2_HUMAN, Q8NFU1Function: 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 BEST2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEST2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BEST2 (NM_017682) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BEST2 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BEST2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST2 |
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 | contributes to chloride channel activity |
ISS | -- |
BEST2 for ontologies About GeneDecksing
Animal Models:
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Best2):
BEST2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for BEST2 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 | | | 3 | Gastric acid secretion | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 
Reactome Pathways for BEST2
1 
Kegg Pathway (Kegg details for BEST2):
BEST2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BEST2
1 Interacting protein for BEST2 (Q8NFU13) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
BEST2 for ontologies About GeneDecksing
|
Drugs & Compounds
for BEST2 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 BEST2
3 HMDB Compounds for BEST2 About this table
Search CenterWatch for drugs/clinical trials and news about BEST2
|
Transcripts
for BEST2 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 BEST2 gene: NM_017682.2 Unigene Cluster for BEST2: Bestrophin 2 Hs.435611 [show with all ESTs]Unigene Representative Sequence: NM_0176824 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000549706 ENST00000553030(uc002mux.3) ENST00000552539 ENST00000042931
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEST2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEST2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: BEST2 (NM_017682) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BEST2 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BEST2 |
Additional cDNA sequence: AF440756.1 AK000139.1 AK225232.1 AY515705.1 1 DOTS entry: DT.435655 8 AceView cDNA sequences: BX107640 CD671941 AF440756 NM_017682 AY515705 AK000139 AA573517 AA621745
GeneLoc Exon Structure
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Expression
for BEST2 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
| BEST2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGATGAAAG
About this image
See BEST2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BEST2
SOURCE GeneReport for Unigene cluster: Hs.435611
UniProtKB/Swiss-Prot: BEST2_HUMAN, Q8NFU1Tissue specificity: Mainly confined to the retinal pigment epithelium and colon
SABiosciences Custom PCR Arrays for BEST2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BEST2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BEST2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BEST2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEST2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST2 |
Orthologs
for BEST2 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 BEST2 gene from 6/17 species (see all 17) About this table
ENSEMBL Gene Tree for BEST2 (if available)
TreeFam Gene Tree for BEST2 (if available) |
Paralogs
for BEST2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BEST2 gene
- BEST12 BEST42 BEST32
3 SIMAP similar genes for BEST2 using alignment to 2 protein entries: BEST2_HUMAN (see all proteins):BEST3 BEST1 BEST4
BEST2 for paralogs About GeneDecksing
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Genomic Variants
for BEST2 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 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BEST2 (12862516 - 12869272 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for BEST2
1 CNV: 4400 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BEST2 |
|
Disorders
/ Diseases
for BEST2 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
|
BEST2 for disorders About GeneDecksing
OMIM gene information: 607335
OMIM disorders: --
6  diseases for BEST2: About MalaCardsvitelliform macular dystrophy macular dystrophy retinitis bestrophinopathy
retinal degeneration pancreatitis
2 diseases from the University of Copenhagen DISEASES database for BEST2:Vitelliform macular dystrophy Bestrophinopathy Export disorders for BEST2 gene to outside databases
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Publications
for BEST2 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 BEST2 gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with BEST2) | |  | 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)
- Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction. (PubMed id 16912113)1, 3 Pifferi S....Zucchelli S. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Structure-function analysis of the bestrophin family of anion channels. (PubMed id 12907679)1, 2 Tsunenari T....Nathans J. (2003)
- The vitelliform macular dystrophy protein defines a new family of chloride channels. (PubMed id 11904445)1, 2 Sun H.... Nathans J. (2002)
- Bestrophin 2 is expressed in human non-pigmented cili ary epithelium but not retinal pigment epithelium. (PubMed id 20157619)1, 9 Zhang Y....Marmorstein A.D. (2010)
- Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PubMed id 22360420)1 Martins-de-Souza D....Bahn S. (2012)
- Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon. (PubMed id 20407206)1 Yu K....Hartzell H.C. (2010)
- 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)
- Functional roles of bestrophins in ocular epithelia. (PubMed id 19398034)1 Marmorstein A.D....Peachey N.S. (2009)
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External Searches for BEST2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing BEST2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BEST2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BEST2 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 BEST2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for BEST2 gene:
Search GeneIP for patents involving BEST2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BEST2 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 BEST2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BEST2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BEST2 | | | OriGene Protein Over-expression Lysate for BEST2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BEST2 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEST2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEST2 | | | 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 BEST2 | | OriGene Custom Protein Services for BEST2 | | | OriGene Custom Immunoassay Development | | |
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 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BEST2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BEST2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEST2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BEST2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEST2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BEST2 |
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 |  |  |  | |
| | | | Search Tocris compounds for BEST2 |
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 | | | BEST2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST2 |
|  |  |  | | | | ThermoFisher Antibodies for BEST2 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BEST2 |
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