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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BEST1 Gene

protein-coding GIFtS: 60
GCID: GC11P061717

bestrophin 1

(Previous name: vitelliform macular dystrophy 2 )
(Previous symbol: VMD2)

Explore 34 diseases affiliated with
BEST1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Bestrophin 1¹ ²		TU15B² ³
VMD2¹ ² ³ ⁵		ARB² ⁵
RP50¹ ² ⁵		Vitelliform Macular Dystrophy 2¹
BEST¹ ²		Best1V1Delta2²
BMD¹ ²		Best Disease²
Vitelliform Macular Dystrophy Protein 2² ³		Bestrophin-1¹

External Ids:	HGNC: 12703¹	Entrez Gene: 7439²	Ensembl: ENSG00000167995⁷	OMIM: 607854⁵	UniProtKB: O76090³

Export aliases for BEST1 gene to outside databases

Previous GC identifers: GC11P061475 GC11P058045

(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 BEST1:

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a

highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may

regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated

chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion

transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy

(VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and

other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.(provided by RefSeq,

Nov 2008)

UniProtKB/Swiss-Prot: BEST1_HUMAN, O76090

Function: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate

Gene Wiki entry for BEST1 (Bestrophin 1)

(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_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BEST1 gene promoter:
NRSF form 1 LCR-F1 NRSF form 2 CBF-C CBF-A CBF-B CP1A CP1C NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BEST1 promoter sequence

Search SABiosciences Chromatin IP Primers for BEST1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEST1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13 Ensembl cytogenetic band: 11q12.3 HGNC cytogenetic band: 11q12

BEST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BEST1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P061717: view genomic region (about GC identifiers)

Start:	61,717,293 bp from pter	End:	61,732,987 bp from pter
Size:	15,695 bases	Orientation:	plus strand

(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: BEST1_HUMAN, O76090 (See protein sequence)

Recommended Name: Bestrophin-1

Size: 585 amino acids; 67684 Da

Subunit: Tetramer or pentamers. May interact with PPP2CB and PPP2R1B (By similarity)

Subcellular location: Cell membrane; Multi-pass membrane protein. Basolateral cell membrane

Sequence caution: Sequence=BAH12234.1; Type=Erroneous initiation; Sequence=BAH13472.1; Type=Erroneous initiation;

Secondary accessions: A8K0W6 B7Z3J8 B7Z736 O75904 Q53YQ9 Q8IUR9 Q8IZ80

Alternative splicing: 3 isoforms: O76090-1 O76090-3 O76090-4

Explore the universe of human proteins at neXtProt for BEST1: NX_O76090

Post-translational modifications:

Phosphorylated by PP2A (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O76090

BEST1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001132915.1 NP_004174.1

ENSEMBL proteins:

ENSP00000367282 ENSP00000431189 ENSP00000432681 ENSP00000399709 ENSP00000433195

ENSP00000408390 ENSP00000367281 ENSP00000301774

Reactome Protein details: O76090
Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for BEST1
	Novus Biologicals BEST1 Proteins Novus Biologicals BEST1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for BEST1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005829	cytosol	TAS	17003041
GO:0016020	membrane	TAS	10737974
GO:0016021	integral to membrane	TAS	10737974
GO:0016323	basolateral plasma membrane	IDA	19853238

BEST1 for ontologies About GeneDecksing

BEST1 Antibody Products:

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	Novus Biologicals BEST1 Antibodies
	Search for Antibodies for BEST1 at Abcam
	Uscn Antibodies for BEST1
	ThermoFisher Antibodies for BEST1

Assay Products for BEST1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BEST1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BEST1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BEST1 for domains About GeneDecksing

2 InterPro domains/families:

IPR021134 Bestrophin/UPF0187

IPR000615 Bestrophin

Graphical View of Domain Structure for InterPro Entry O76090

ProtoNet protein and cluster: O76090

1 Blocks protein family: IPB000615 Putative membrane protein

UniProtKB/Swiss-Prot: BEST1_HUMAN, O76090

Similarity: Belongs to the bestrophin family

(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: BEST1_HUMAN, O76090

Function: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate

miRNA Products:		OriGene 3'-UTR Clone (see all 2): BEST1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BEST1
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate BEST1:
		hsa-miR-542-3p hsa-miR-4302
		SwitchGear 3'UTR luciferase reporter plasmid: BEST1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BEST1 (see all 7) OriGene shRNA RFP: BEST1 OriGene siRNA: BEST1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BEST1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BEST1

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 BEST1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEST1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): BEST1 (NM_004183)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BEST1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BEST1
		Search LifeMap BioReagents cell lines for BEST1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005254	contributes to chloride channel activity	IDA	17003041

BEST1 for ontologies About GeneDecksing

5 GenomeRNAi human phenotypes for BEST1:

Decreased POU5F1-GFP protein e	Decreased cilium length after	Increased G2M DNA content	Increased circadian rhythm amp
Increased number of mitotic ce

Animal Models:
Mouse knock-out Best1^tm1Lmar for BEST1
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Best1):

pigmentation

vision/eye

BEST1 for phenotypes About GeneDecksing

(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

Ion channel transport

Ion channel transport

1.00

Stimuli-sensing channels

0.49

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for BEST1

	Transmembrane transport of small molecules
	Stimuli-sensing channels
	Ion channel transport

BEST1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BEST1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for BEST1 (O76090³ ENSP00000301774⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP2R5A	Q15172³, ENSP00000261461⁴	I2D: score=1 STRING: ENSP00000261461
PPP2CA	P67775³, ENSP00000418447⁴	I2D: score=1 STRING: ENSP00000418447

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006821	chloride transport	IDA	17003041
GO:0007601	visual perception	TAS	9662395
GO:0030321	transepithelial chloride transport	IDA	17003041
GO:0050896	response to stimulus	--	--
GO:0050908	detection of light stimulus involved in visual perception	IEA	--

BEST1 for ontologies About GeneDecksing

(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

BEST1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BEST1

3 HMDB Compounds for BEST1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Chlorine	Cl2 (see all 13)	16887-00-6	--
Hydrogen carbonate	Bicarbonate (see all 19)	71-52-3	--

4 Novoseek chemical compound relationships for BEST1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
chloride	66	18	12565808 (1), 19635817 (1), 20238019 (1), 15627199 (1) (see all 15)
phenylalanine	17	1	15218265 (1)
calcium	15.5	11	12939260 (4), 19262692 (3), 11904445 (1), 18945938 (1) (see all 5)
vegf	0	2	15389527 (1), 16971894 (1)

Search CenterWatch for drugs/clinical trials and news about BEST1

(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 BEST1 gene (2 alternative transcripts):

NM_001139443.1 NM_004183.3

Unigene Cluster for BEST1:

Bestrophin 1

Hs.712676 [show with all ESTs]

Unigene Representative Sequence: NM_001139443

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000378043(uc010rlq.1 uc001nss.3 uc009ynt.3 uc010rlt.2)

ENST00000534553 ENST00000529265(uc010rlp.2) ENST00000533521 ENST00000524877(uc001nsq.3 uc010rlu.1)

ENST00000524926 ENST00000449131(uc001nsr.2 uc010rlv.2) ENST00000526988

ENST00000435278 ENST00000378042(uc010rlr.1 uc001nst.3) ENST00000301774(uc010rls.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): BEST1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BEST1
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate BEST1:
		hsa-miR-542-3p hsa-miR-4302
		SwitchGear 3'UTR luciferase reporter plasmid: BEST1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BEST1 (see all 7) OriGene shRNA RFP: BEST1 OriGene siRNA: BEST1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BEST1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BEST1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BEST1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): BEST1 (NM_004183)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BEST1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEST1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BEST1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat BEST1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BEST1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEST1

Additional cDNA sequence:

AF057169.1 AF073501.1 AK289681.1 AK293701.1 AK294577.1 AK295450.1 AK295580.1 AK295838.1

AK295998.1 AK298747.1 AK301392.1 AK309076.1 AY515704.1 BC015220.2 BC041664.1 JQ954696.1

15 DOTS entries:

DT.91694190 DT.40114537 DT.100060591 DT.100739421 DT.98132026 DT.100736690 DT.120688917 DT.100736743

DT.100754843 DT.95269245 DT.95365175 DT.97809213 DT.120689070 DT.91653521 DT.91692924

24/86 AceView cDNA sequences (see all 86):

CA389968 CD518675 BU733312 CA397980 AY515704 AF073501 AF057170 BM707649

BC015220 BC041664 BM707813 NM_004183 AF057169 CA395098 BQ184248 BQ185946

BU726009 CA308356 CO396179 BG013943 BP382328 BP379588 BM562042 AA318352

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BEST1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b	·	10c	^	11
SP1:																									-												-
SP2:																																					-
SP3:							-		-																-		-		-								-
SP4:							-		-																-
SP5:									-		-		-		-		-		-		-		-		-		-

ECgene alternative splicing isoforms for BEST1

(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

BEST1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTACAACA

About this image

BEST1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retinal Pigmented Epithelium

Mature Retinal Pigmented Epithelium Cells

Selective marker (cell-identifying gene)

Retinal Pigmented Epithelium

Eye

Retinal Pigmented Epithelium

Retinal Pigmented Epithelium Progenitor Cells

Retinal Pigmented Epithelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

Pigmented epithelium cell clusters (Direct differentiati...)

Pigmented epithelium cell monolayers (Direct differentiati...)

Retinal pigment epithelium-like cells (Generation of retina...)

Retinal pigment epithelium-like cells (Generation of photor...)

See BEST1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BEST1

SOURCE GeneReport for Unigene cluster: Hs.712676

UniProtKB/Swiss-Prot: BEST1_HUMAN, O76090

Tissue specificity: Predominantly expressed in the basolateral membrane of the retinal pigment epithelium

SABiosciences Expression via Pathway-Focused PCR Array including BEST1:

Neuronal Ion Channels in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEST1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST1

(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 BEST1 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BEST1¹	bestrophin 1	66.61(n) 61.7(a)		423124 XM_421055.2 XP_421055.2
lizard (Anolis carolinensis)	Reptilia	BEST1⁶	--	53(a)	1 ↔ 1	GL343235.1(2249184-2272751)
zebrafish (Danio rerio)	Actinopterygii	LOC560608¹	bestrophin-1-like	63.57(n) 61.78(a)		560608 XM_684006.5 XP_689098.2
fruit fly (Drosophila melanogaster)	Insecta	Best4⁶ Best3⁶ (see all 4)	Bestrophin 3 (see all 4)	28(a) 28(a) (see all 4)	possible ortholog possible ortholog (see all 4)	3L(15292058-15294042) 3L(15294015-15295885)
worm (Caenorhabditis elegans)	Secernentea	ZK675.3⁶ F32B6.9⁶ (see all 26)	Uncharacterized protein F32B6.9 (see all 26)	31(a) 29(a) (see all 26)	possible ortholog possible ortholog (see all 26)	II(7904587-7907538) IV(9903891-9905889)

ENSEMBL Gene Tree for BEST1 (if available)
TreeFam Gene Tree for BEST1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BEST1 gene

BEST2² BEST4² BEST3²

4 SIMAP similar genes for BEST1 using alignment to 5 protein entries: BEST1_HUMAN (see all proteins):

BEST2 BEST3 NARF BEST4

BEST1 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28940275^1,2	C	pathogenic	58047284(+)	`CTTACA/CCAAGC`	3	T P	mis¹ int¹ ese³		0	--	--	--	--
rs28940276^1,2	C	pathogenic	58047293(+)	`GCCAAA/GTGGCT`	3	M V	mis¹ int¹		0	--	--	--	--
rs121918285^1,2	C	pathogenic	58047355(+)	`ATCTAC/G/TAAGCT`	4	Y *	stg¹ syn¹ int¹		0	--	--	--	--
rs121918288^1,2	C	pathogenic	58047390(+)	`CCTGCT/CCTGCT`	3	/P /L	mis¹ int¹		1		NA	4552
rs28940278^1,2	C	pathogenic	58047408(+)	`CATCCA/GCTTTA`	3	H R	mis¹ int¹		0	--	--	--	--
rs28940274^1,2	C	pathogenic	58051181(+)	`GCTTCT/CACGTG`	4	/H /Y	mis¹ ese³		2		NA	4
rs28940273^1,2	C	pathogenic	58051207(+)	`CGCTGG/CTGGAA`	4	/C /W	mis¹ ese³		2		NA	4
rs1805142^1,2	C	pathogenic	58051283(+)	`AGGACG/CAGCAA`	4	/Q /E	mis¹		2		NA	4
rs121918284^1,2	C,	pathogenic	58051350(+)	`CCTGCA/GCAGCG`	4	H R	mis¹		0	--	--	--	--
rs28941469^1,2	C	pathogenic	58052887(+)	`ATGCCT/AACGAC`	4	/N /Y	mis¹ ese³		2		NA	4

HapMap Linkage Disequilibrium report for BEST1 (61717293 - 61732987 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BEST1: --
Human Gene Mutation Database (HGMD): BEST1

Locus Specific Mutation Databases (LSDB): BEST1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BEST1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BEST1 for disorders           About GeneDecksing

OMIM gene information: 607854
OMIM disorders: 153700  608161  611809  193220  613194
UniProtKB/Swiss-Prot: BEST1_HUMAN, O76090

Defects in BEST1 are the cause of vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]; also known as Best

macular dystrophy (BMD). VMD2 is an autosomal dominant form of macular degeneration that usually begins in childhood

or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin

within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the

retinal pigment epithelium and vision loss

Defects in BEST1 are the cause of retinitis pigmentosa type 50 (RP50) [MIM:613194]. A retinal dystrophy

belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus

examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients

typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose

their far peripheral visual field and eventually central vision as well

Defects in BEST1 are a cause of adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]. AVMD is a rare

autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become

symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity

Defects in BEST1 are the cause of bestrophinopathy autosomal recessive (ARB) [MIM:611809]. A retinopathy

characterized by central visual loss, an absent electro-oculogram light rise, and a reduced electroretinogram

Defects in BEST1 are the cause of vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]. A

disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable and may be associated

with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma

20/34 diseases for BEST1 (see all 34): About MalaCards

vitelliform macular dystrophy macular dystrophy adult-onset vitelliform macular dystrophy microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

retinitis pigmentosa, concentric retinitis pigmentosa-50 angle-closure glaucoma retinitis

vitreoretinochoroidopathy age related macular degeneration cone dystrophy leber congenital amaurosis

retinitis pigmentosa maculopathy macular degeneration neurogenic bowel

pigmentary retinopathy bestrophinopathy fundus dystrophy retinal degeneration

3 diseases from the University of Copenhagen DISEASES database for BEST1:

Vitelliform macular dystrophy Bestrophinopathy Neurogenic bowel

7 Novoseek disease relationships for BEST1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
macular dystrophy, vitelliform	98.7	69	10682987 (3), 16754206 (3), 11449320 (2), 10854112 (2) (see all 41)
vitreoretinochoroidopathy	95.2	5	15452077 (1), 15627199 (1), 18309337 (1), 16707793 (1)
drusen	67.2	4	19421767 (4)
maculopathy	60.5	6	19421767 (3), 17646752 (2), 10737974 (1)
retinopathy	57.8	9	10682987 (1), 12565808 (1), 10854112 (1), 15627199 (1) (see all 9)
retinal degeneration	51.2	5	16707793 (1), 16940553 (1), 18955594 (1), 17968025 (1)
cystic fibrosis	42.7	5	20100480 (1), 17361457 (1), 16314923 (1), 19237432 (1) (see all 5)

GeneTests: BEST1

Best Vitelliform Macular Dystrophy

Human Genome Epidemiology (HuGE) Navigator: BEST1 (2 documents)

Export disorders for BEST1 gene to outside databases

(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 BEST1 gene, integrated from 9 sources (see all 169):
(articles sorted by number of sources associating them with BEST1)

Utopia: connect your pdf to the dynamic
world of online information

Missense mutations in a retinal pigment epithelium pr otein, bestrophin-1, cause retinitis pigmentosa. (PubMed id 19853238)^{1, 2, 9} Davidson A.E....Manson F.D. (2009)
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). (PubMed id 15452077)^{1, 2, 9} Yardley J.... Black G.C.M. (2004)
A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular dystrophy sporadic case. (PubMed id 10682987)^{1, 2, 9} Palomba G....Pirastu M. (2000)
Bestrophin Cl- channels are highly permeable to HCO3-. (PubMed id 18400985)^{1, 2, 9} Qu Z. and Hartzell H.C. (2008)
Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. (PubMed id 11449320)^{1, 2, 9} Eksandh L.... Andreasson S. (2001)
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PubMed id 10798642)^{1, 2, 9} Lotery A.J....Stone E.M. (2000)
Mutation analysis of the VMD2 gene in thai families with Best macular dystrophy. (PubMed id 18766995)^{1, 2, 9} Atchaneeyasakul L.O.... Limwongse C. (2008)
Identification of a novel VMD2 mutation in Japanese patients with Best disease. (PubMed id 12187431)^{1, 2, 9} Yanagi Y.... Mori M. (2002)
Bestrophin 1 enables Ca2+ activated Cl- conductance in epithelia. (PubMed id 17003041)^{1, 3, 9} Barro Soria R....Kunzelmann K. (2006)
Structure-function analysis of the bestrophin family of anion channels. (PubMed id 12907679)^{1, 2, 9} Tsunenari T....Nathans J. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7439	HGNC: 12703	AceView: VMD2	Ensembl:ENSG00000167995	euGenes: HUgn7439
ECgene: BEST1	H-InvDB: BEST1

(According to HUGE)
About This Section

(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 BEST1	Pharmacogenomics, SNPs, Pathways
VMD2 mutation database	http://www-huge.uni-regensburg.de/VMD2_database/index.php?select_db=VMD2
Mutations of the VMD2 gene	http://www.retina-international.org/sci-news/databases/mutation-database/best1-mutation/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BEST1

Intellectual Property for BEST1 gene
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About This Section

Patent Information for BEST1 gene:
Search GeneIP for patents involving BEST1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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