Version 5.4
Homo sapiens Gene: BEST2
Summary
InnateDB Gene IDBG-30930.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BEST2
Gene Name bestrophin 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000039987
Encoded Proteins
IDBP-30932
bestrophin 2
IDBP-591357
bestrophin 2
IDBP-594265
bestrophin 2
IDBP-601577
bestrophin 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:12751702-12758458
Strand Forward strand
Band p13.13
Transcripts
ENST00000042931 ENSP00000042931
ENST00000549706 ENSP00000448310
ENST00000553030 ENSP00000447203
ENST00000552539 ENSP00000449403
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005254 chloride channel activity
Biological Process
GO:0006821 chloride transport
GO:0007608 sensory perception of smell
GO:0008150 biological_process
GO:0051899 membrane depolarization
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0034707 chloride channel complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000052819
View Gene Order
ENSBTAG00000025652
Not yet available
Pathways
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_267716
Orphan transporters pathway
REACT_25300
Ion channel transport pathway
KEGG
hsa04970
Salivary secretion pathway
INOH
PID NCI
Cross-References
SwissProt Q8NFU1
TrEMBL
UniProt Splice Variant
Entrez Gene 54831
UniGene Hs.435611
RefSeq XM_005259963 NM_017682
HUGO HGNC:17107
OMIM 607335
CCDS CCDS42506
HPRD
IMGT
EMBL AF440756 AK000139 AY515705
GenPept AAM76995 AAR99655 BAA90970
RNA Seq Atlas 54831

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca