BEST2 (bestrophin 2)

Gene

• Entrez ID: 54831
• Gene name: Bestrophin 2
• Gene symbol: BEST2
• Synonyms (NCBI Gene): VMD2L1
• Chromosome: 19
• Chromosome location: 19p13.13
• Summary: 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 homologou

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2384766	hsa-miR-4704-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005217	Function	Intracellularly ligand-gated monoatomic ion channel activity	IDA	36289327
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IDA	18400985
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183, 36289327
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005929	Component	Cilium	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007608	Process	Sensory perception of smell	ISS
GO:0015267	Function	Channel activity	IEA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0034707	Component	Chloride channel complex	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051899	Process	Membrane depolarization	ISS
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0099094	Function	Ligand-gated monoatomic cation channel activity	IMP	35789156
GO:0099095	Function	Ligand-gated monoatomic anion channel activity	ISS
GO:0160133	Function	Bicarbonate channel activity	IDA	18400985
GO:1902476	Process	Chloride transmembrane transport	IBA

Other IDs

• MIM: 607335
• HGNC: 17107
• e!Ensembl: ENSG00000039987

Protein

• UniProt ID: Q8NFU1
• Protein name: Bestrophin-2a (Vitelliform macular dystrophy 2-like protein 1)
• Protein function: Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:18400985, PubMed:32251414, PubMed:35789156, PubMed:36289327). Transports a large specter of anions, nam
• PDB: 8D1E, 8D1F, 8D1G, 8D1H, 9DYH, 9DYI, 9DYJ, 9DYK, 9DYN, 9DYO
• 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: Mainly confined to the retinal pigment epithelium (PubMed:12032738). Expressed in colon (PubMed:12032738, PubMed:20407206). {ECO:0000269|PubMed:12032738, ECO:0000269|PubMed:20407206}.
• Sequence:

  MTVTYTARVANARFGGFSQLLLLWRGSIYKLLWRELLCFLGFYMALSAAYRFVLTEGQKR
  YFEKLVIYCDQYASLIPVSFVLGFYVTLVVNRWWSQYLCMPLPDALMCVVAGTVHGRDDR
  GRLYRRTLMRYAGLSAVLILRSVSTAVFKRFPTIDHVVEAGFMTREERKKFENLNSSYNK
  YWVPCVWFSNLAAQARREGRIRDNSALKLLLEELNVFRGKCGMLFHYDWISVPLVYTQVV
  TIALYSYFLACLIGRQFLDPAQGYKDHDLDLCVPIFTLLQFFFYAGWLKVAEQLINPFGE
  DDDDFETNFLIDRNFQVSMLAVDEMYDDLAVLEKDLYWDAAEARAPYTAATVFQLRQPSF
  QGSTFDITLAKEDMQFQRLDGLDGPMGEAPGDFLQRLLPAGAGMVAGGPLGRRLSFLLRK
  NSCVSEASTGASCSCAVVPEGAAPECSCGDPLLDPGLPEPEAPPPAGPEPLTLIPGPVEP
  FSIVTMPGPRGPAPPWLPSPIGEEEENLA

• Sequence length: 509

Pathways

KEGG:

Salivary secretion

Reactome:

Stimuli-sensing channels

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Barrett Esophagus	Barrett esophagus	BEFREE	28404010		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24223998	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32323816, 33919332	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	20157619	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30149149		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36389709	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	24223998		★☆☆☆☆ Found in Text Mining only