BEST2:Bestrophin-2

Gene Name
Bestrophin-2
Protein ID
Q8NFU1
Chromosome ID
19
HPP Status
1
Protein Name
Bestrophin-2
Synonyms

VMD2L1

Vitelliform macular dystrophy 2-like protein 1

vitelliform macular dystrophy 2-like 1

vitelliform macular dystrophy 2-like protein 1

bestrophin 2

VMD2-like gene 1

bestrophin-2


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST2 ]
Chromosomal Position
19p13.13 | Start:12751702 End:12751702
Sequence
Q8NFU1.fasta
Description

Entrez Gene Summary for BEST2
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 homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. (provided by RefSeq, Jul 2008)

UniProtKB Summary for BEST2
Function: Forms calcium-sensitive chloride channels. Permeable to bicarbonate

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST2 ]
External IDs
Hgnc ID: 17107 EntrezGene ID: 54831 Ensembl ID: ENSG00000039987
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST2 ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
12032738identified three novel VMD2-related human genes demonstrating a high degree of conservation in their respective RFP-TM domains [VMD2L1, VMD2L2, VMD2L3]2010-01-21
19237432Results 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.2010-01-21
19398034we 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]2010-01-21
20157619These data suggest that Best2 may play a functional role in the regulation of aqueous flow and drainage in humans.2010-03-15
20407206Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon2010-05-31
22360420A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.2012-04-26
24223998BEST2 and BEST4 could be added to the lineage-specific genes of humans intestinal epithelial cells2014-08-23
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceBEST2_HUMANBEST1_PIG50922263.5143.6180115637732231.00E-80296
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

KEGG Pathways

Pathway IDDatabase NamePathway Name
hsa04970KEGG PATHWAYSalivary secretion
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




Showing 1-20 of 56 items.

gpmDB

Peptide SequenceEvidence LevelLog ENumber Of ObservationSpectraAccession IDProteotypicityAnnotation
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000042931Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000448310Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000448310Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000447203Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000447203Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000042931Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000042931Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000448310Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000448310Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000447203Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000447203Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-15.0131ENSP00000042931Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-14.7131ENSP00000042931Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-14.7131ENSP00000448310Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-14.7131ENSP00000447203Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-14.7131ENSP00000042931Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-14.7131ENSP00000448310Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-14.7131ENSP00000447203Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-14.0131ENSP00000042931Proteotypic
VAEQLINPFGEDDDDFETNFLIDRgreen-14.0131ENSP00000448310Proteotypic
Evidence File
/mnt/mpp/ms_data/Q8NFU1_gpmdb.txt
Reference
Fenyö, David; Beavis, Ronald C. (2015). "The GPMDB REST interface". Bioinformatics 31 (12): 2056–2058. doi:10.1093/bioinformatics/btv107. ISSN 1367-4803.
http://gpmdb.thegpm.org/ ">Global Proteome Machine Database - THE GPM


PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
No results found.
Evidence File
/mnt/mpp/ms_data/Q8NFU1_pridedb.txt
Reference
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456.
https://www.ebi.ac.uk/pride/archive/ ">PRIDE Archive


Proteomics DB

Evidence File
/mnt/mpp/ms_data/Q8NFU1_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB