Property Summary

NCBI Gene PubMed Count 14
PubMed Score 15.11
PubTator Score 21.85

Knowledge Summary

Patent (745)

TINX Plot

  Disease (2)

Expression

  Differential Expression (4)

Disease log2 FC p
medulloblastoma, large-cell 1.100 3.0e-05
cystic fibrosis -1.500 3.6e-04
ulcerative colitis -2.000 2.5e-03
psoriasis -2.900 7.2e-78

Gene RIF (7)

PMID Text
24223998 BEST2 and BEST4 could be added to the lineage-specific genes of humans intestinal epithelial cells
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
20407206 Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon
20157619 These data suggest that Best2 may play a functional role in the regulation of aqueous flow and drainage in humans.
19398034 we examine data obtained from tissue-type and animal models and discuss the current state of bestrophin research, what roles Best2 may play in ocular epithelia and electrophysiology, how perturbation of these functions may result in disease. [REVIEW]
19237432 Results provide evidence that the bestrophins are expressed in pancreatic duct cells and, more specifically, that hBest1 plays a role in the calcium activated chloride channels found in these cells.
12032738 identified three novel VMD2-related human genes demonstrating a high degree of conservation in their respective RFP-TM domains [VMD2L1, VMD2L2, VMD2L3]

AA Sequence

MTVTYTARVANARFGGFSQLLLLWRGSIYKLLWRELLCFLGFYMALSAAYRFVLTEGQKRYFEKLVIYCD      1 - 70
QYASLIPVSFVLGFYVTLVVNRWWSQYLCMPLPDALMCVVAGTVHGRDDRGRLYRRTLMRYAGLSAVLIL     71 - 140
RSVSTAVFKRFPTIDHVVEAGFMTREERKKFENLNSSYNKYWVPCVWFSNLAAQARREGRIRDNSALKLL    141 - 210
LEELNVFRGKCGMLFHYDWISVPLVYTQVVTIALYSYFLACLIGRQFLDPAQGYKDHDLDLCVPIFTLLQ    211 - 280
FFFYAGWLKVAEQLINPFGEDDDDFETNFLIDRNFQVSMLAVDEMYDDLAVLEKDLYWDAAEARAPYTAA    281 - 350
TVFQLRQPSFQGSTFDITLAKEDMQFQRLDGLDGPMGEAPGDFLQRLLPAGAGMVAGGPLGRRLSFLLRK    351 - 420
NSCVSEASTGASCSCAVVPEGAAPECSCGDPLLDPGLPEPEAPPPAGPEPLTLIPGPVEPFSIVTMPGPR    421 - 490
GPAPPWLPSPIGEEEENLA                                                       491 - 509
//

Text Mined References (15)

PMID Year Title
24223998 2013 Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
20407206 2010 Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon.
20157619 2010 Bestrophin 2 is expressed in human non-pigmented ciliary epithelium but not retinal pigment epithelium.
19398034 2009 Functional roles of bestrophins in ocular epithelia.
19237432 2009 Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1.
18400985 2008 Bestrophin Cl- channels are highly permeable to HCO3-.
16912113 2006 Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12907679 2003 Structure-function analysis of the bestrophin family of anion channels.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12032738 2002 Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.
11904445 2002 The vitelliform macular dystrophy protein defines a new family of chloride channels.
9700209 1998 Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.