Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	144453
Gene name	Bestrophin 3
Gene symbol	BEST3
Synonyms (NCBI Gene)	VMD2L3
Chromosome	12
Chromosome location	12q15
Summary	BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are trans

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Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042669	hsa-miR-196b-5p	CLASH	23622248
MIRT712823	hsa-miR-532-5p	HITS-CLIP	19536157
MIRT712822	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT712821	hsa-miR-6884-3p	HITS-CLIP	19536157
MIRT712820	hsa-miR-625-5p	HITS-CLIP	19536157
MIRT712819	hsa-miR-6795-5p	HITS-CLIP	19536157
MIRT712818	hsa-miR-6887-5p	HITS-CLIP	19536157
MIRT712817	hsa-miR-4633-5p	HITS-CLIP	19536157
MIRT712816	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT526392	hsa-miR-6771-3p	PAR-CLIP	22012620
MIRT526391	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT526390	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT526389	hsa-miR-1283	PAR-CLIP	22012620
MIRT526388	hsa-miR-4539	PAR-CLIP	22012620
MIRT526387	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT497110	hsa-miR-4781-5p	PAR-CLIP	22291592
MIRT497109	hsa-miR-3927-3p	PAR-CLIP	22291592
MIRT497108	hsa-miR-6831-5p	PAR-CLIP	22291592
MIRT497107	hsa-miR-3529-5p	PAR-CLIP	22291592
MIRT497106	hsa-miR-379-5p	PAR-CLIP	22291592
MIRT497105	hsa-miR-5708	PAR-CLIP	22291592
MIRT441480	hsa-miR-624-5p	PAR-CLIP	22100165
MIRT441479	hsa-miR-4308	PAR-CLIP	22100165
MIRT441478	hsa-miR-4292	PAR-CLIP	22100165
MIRT441477	hsa-miR-6791-5p	PAR-CLIP	22100165
MIRT441476	hsa-miR-7113-3p	PAR-CLIP	22100165
MIRT441475	hsa-miR-3192-5p	PAR-CLIP	22100165
MIRT441474	hsa-miR-1911-5p	PAR-CLIP	22100165
MIRT441473	hsa-miR-7106-3p	PAR-CLIP	22100165
MIRT441472	hsa-miR-765	PAR-CLIP	22100165
MIRT441471	hsa-miR-7106-5p	PAR-CLIP	22100165
MIRT441470	hsa-miR-149-3p	PAR-CLIP	22100165
MIRT441468	hsa-miR-4728-5p	PAR-CLIP	22100165
MIRT441469	hsa-miR-6785-5p	PAR-CLIP	22100165
MIRT441467	hsa-miR-6883-5p	PAR-CLIP	22100165
MIRT441466	hsa-miR-6799-5p	PAR-CLIP	22100165
MIRT441465	hsa-miR-1273h-5p	PAR-CLIP	22100165
MIRT441464	hsa-miR-30b-3p	PAR-CLIP	22100165
MIRT441463	hsa-miR-3689a-3p	PAR-CLIP	22100165
MIRT441462	hsa-miR-3689b-3p	PAR-CLIP	22100165
MIRT441461	hsa-miR-3689c	PAR-CLIP	22100165
MIRT441460	hsa-miR-6779-5p	PAR-CLIP	22100165
MIRT441459	hsa-miR-6780a-5p	PAR-CLIP	22100165
MIRT712823	hsa-miR-532-5p	HITS-CLIP	19536157
MIRT712822	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT712821	hsa-miR-6884-3p	HITS-CLIP	19536157
MIRT712820	hsa-miR-625-5p	HITS-CLIP	19536157
MIRT712819	hsa-miR-6795-5p	HITS-CLIP	19536157
MIRT712818	hsa-miR-6887-5p	HITS-CLIP	19536157
MIRT712817	hsa-miR-4633-5p	HITS-CLIP	19536157
MIRT712816	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT526392	hsa-miR-6771-3p	PAR-CLIP	22012620
MIRT526391	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT526390	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT526389	hsa-miR-1283	PAR-CLIP	22012620
MIRT526388	hsa-miR-4539	PAR-CLIP	22012620
MIRT526387	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT497110	hsa-miR-4781-5p	PAR-CLIP	22291592
MIRT497109	hsa-miR-3927-3p	PAR-CLIP	22291592
MIRT497108	hsa-miR-6831-5p	PAR-CLIP	22291592
MIRT497107	hsa-miR-3529-5p	PAR-CLIP	22291592
MIRT497106	hsa-miR-379-5p	PAR-CLIP	22291592
MIRT497105	hsa-miR-5708	PAR-CLIP	22291592
MIRT441480	hsa-miR-624-5p	PAR-CLIP	22100165
MIRT441479	hsa-miR-4308	PAR-CLIP	22100165
MIRT441478	hsa-miR-4292	PAR-CLIP	22100165
MIRT441477	hsa-miR-6791-5p	PAR-CLIP	22100165
MIRT441476	hsa-miR-7113-3p	PAR-CLIP	22100165
MIRT441475	hsa-miR-3192-5p	PAR-CLIP	22100165
MIRT441474	hsa-miR-1911-5p	PAR-CLIP	22100165
MIRT441473	hsa-miR-7106-3p	PAR-CLIP	22100165
MIRT441472	hsa-miR-765	PAR-CLIP	22100165
MIRT441471	hsa-miR-7106-5p	PAR-CLIP	22100165
MIRT441470	hsa-miR-149-3p	PAR-CLIP	22100165
MIRT441468	hsa-miR-4728-5p	PAR-CLIP	22100165
MIRT441469	hsa-miR-6785-5p	PAR-CLIP	22100165
MIRT441467	hsa-miR-6883-5p	PAR-CLIP	22100165
MIRT441466	hsa-miR-6799-5p	PAR-CLIP	22100165
MIRT441465	hsa-miR-1273h-5p	PAR-CLIP	22100165
MIRT441464	hsa-miR-30b-3p	PAR-CLIP	22100165
MIRT441463	hsa-miR-3689a-3p	PAR-CLIP	22100165
MIRT441462	hsa-miR-3689b-3p	PAR-CLIP	22100165
MIRT441461	hsa-miR-3689c	PAR-CLIP	22100165
MIRT441460	hsa-miR-6779-5p	PAR-CLIP	22100165
MIRT441459	hsa-miR-6780a-5p	PAR-CLIP	22100165
MIRT820948	hsa-miR-3672	CLIP-seq
MIRT820949	hsa-miR-4297	CLIP-seq
MIRT820950	hsa-miR-4436b-5p	CLIP-seq
MIRT820951	hsa-miR-4463	CLIP-seq
MIRT820952	hsa-miR-3123	CLIP-seq
MIRT820953	hsa-miR-3190	CLIP-seq
MIRT820954	hsa-miR-3681	CLIP-seq
MIRT820955	hsa-miR-3907	CLIP-seq
MIRT820956	hsa-miR-4255	CLIP-seq
MIRT820957	hsa-miR-4299	CLIP-seq
MIRT820958	hsa-miR-4456	CLIP-seq
MIRT820959	hsa-miR-4709-3p	CLIP-seq
MIRT820960	hsa-miR-548q	CLIP-seq
MIRT820961	hsa-miR-595	CLIP-seq
MIRT820962	hsa-miR-671-5p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	12907679
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0015267	Function	Channel activity	IEA
GO:0015698	Process	Inorganic anion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0043271	Process	Negative regulation of monoatomic ion transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0099095	Function	Ligand-gated monoatomic anion channel activity	ISS
GO:1902476	Process	Chloride transmembrane transport	IBA

MIM	HGNC	e!Ensembl
607337	17105	ENSG00000127325

Q8N1M1

Protein name

Bestrophin-3 (Vitelliform macular dystrophy 2-like protein 3)

Protein function

Ligand-gated anion channel that allows the movement of chloride monoatomic anions across cell membranes when activated by calcium (Ca2+).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01062	Bestrophin	8 → 316	Bestrophin, RFP-TM, chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina. {ECO:0000269|PubMed:12032738}.

Sequence

MTVTYSSKVANATFFGFHRLLLKWRGSIYKLLYREFIVFAVLYTAISLVYRLLLTGVQKR
YFEKLSIYCDRYAEQIPVTFVLGFYVTLVVNRWWNQFVNLPWPDRLMFLISSSVHGSDEH
GRLLRRTLMRYVNLTSLLIFRSVSTAVYKRFPTMDHVVEAGFMTTDERKLFNHLKSPHLK
YWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLFGYDWVGIPLVYTQVV
TLAVYTFFFACLIGRQFLDPTKGYAGHDLDLYIPIFTLLQFFFYAGWLKVAEQLINPFGE
DDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFL
GSTVQMGLSGSDFPDEEWLWDYEKHGHRHSMIRRVKRFLSAHEHPSSPRRRSYRRQTSDS
SMFLPRDDLSPARDLLDVPSRNPPRASPTWKKSCFPEGSPTLHFSMGELSTIRETSQTST
LQSLTPQSSVRTSPIKMPLVPEVLITAAEAPVPTSGGYHHDSATSILSSEFTGVQPSKTE
QQQGPMGSILSPSEKETPPGGPSPQTVSASAEENIFNCEEDPGDTFLKRWSLPGFLGSSH
TSLGNLSPDPMSSQPALLIDTETSSEISGINIVAGSRVSSDMLYLMENLDTKETDIIELN
KETEESPK

Sequence length

668

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	30075763	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	30849546	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	30075763	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015	★★★★★ ★☆☆☆☆ Found in Text Mining only

BEST3 (bestrophin 3)