Bestrophin-2

BEST2
Identifiers
Aliases	BEST2, VMD2L1, bestrophin 2
External IDs	OMIM: 607335 MGI: 2387588 HomoloGene: 41187 GeneCards: BEST2
Gene location (Human)
Chr.	Chromosome 19 (human)
End	12,758,458 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	85,741,160 bp
RNA expression pattern
	Top expressed in
	rectum; ; skin of abdomen; ; putamen; ; amygdala; ; caudate nucleus; ; nucleus accumbens; ; monocyte; ; thymus; ; gastrocnemius muscle; ; cecum;
	Top expressed in
	ciliary body; ; left colon; ; iris; ; secondary oocyte; ; lip; ; lens; ; retina; ; cervix; ; esophagus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	chloride channel activity; molecular function;
Cellular component	integral component of membrane; plasma membrane; cilium; membrane; chloride channel complex;
Biological process	sensory perception of smell; membrane depolarization; chloride transport; ion transport; chloride transmembrane transport; biological process;
	Sources:Amigo / QuickGO
Orthologs
	54831
	212989
	ENSG00000039987
	ENSMUSG00000052819
	Q8NFU1
	Q8BGM5
	NM_017682
	NM_001130194
	NP_060152
	NP_001123666
	Wikidata
View/Edit Human	View/Edit Mouse

Bestrophin-2 is a protein that in humans is encoded by the BEST2 gene.^[5]^[6]^[7]

Function[edit]

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 non-pigmented ciliary epithelium and colon.^[7]^[8]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000039987 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000052819 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH (May 2002). "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family". Eur J Hum Genet. 10 (4): 281–284. doi:10.1038/sj.ejhg.5200796. PMID 12032738.
^ Pifferi S, Pascarella G, Boccaccio A, Mazzatenta A, Gustincich S, Menini A, Zucchelli S (Aug 2006). "Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction". Proc Natl Acad Sci U S A. 103 (34): 12929–12934. Bibcode:2006PNAS..10312929P. doi:10.1073/pnas.0604505103. PMC 1568948. PMID 16912113.
^ ^a ^b "Entrez Gene: BEST2 bestrophin 2".
^ Marmorstein AD, Cross HE, Peachey NS (May 2009). "Functional roles of bestrophins in ocular epithelia". Prog Retin Eye Res. 28 (3): 206–226. doi:10.1016/j.preteyeres.2009.04.004. PMC 2740978. PMID 19398034.

External links[edit]

Human BEST2 genome location and BEST2 gene details page in the UCSC Genome Browser.

Further reading[edit]

Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Tsunenari T, Sun H, Williams J, et al. (2003). "Structure-function analysis of the bestrophin family of anion channels". J. Biol. Chem. 278 (42): 41114–41125. doi:10.1074/jbc.M306150200. PMC 2885917. PMID 12907679.
Sun H, Tsunenari T, Yau KW, Nathans J (2002). "The vitelliform macular dystrophy protein defines a new family of chloride channels". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 4008–4013. Bibcode:2002PNAS...99.4008S. doi:10.1073/pnas.052692999. PMC 122639. PMID 11904445.
Marquardt A, Stöhr H, Passmore LA, et al. (1998). "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)". Hum. Mol. Genet. 7 (9): 1517–1525. doi:10.1093/hmg/7.9.1517. PMID 9700209.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000039987 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000052819 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12032738-5] Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH (May 2002). "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family". Eur J Hum Genet. 10 (4): 281–284. doi:10.1038/sj.ejhg.5200796. PMID 12032738.

[pmid16912113-6] Pifferi S, Pascarella G, Boccaccio A, Mazzatenta A, Gustincich S, Menini A, Zucchelli S (Aug 2006). "Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction". Proc Natl Acad Sci U S A. 103 (34): 12929–12934. Bibcode:2006PNAS..10312929P. doi:10.1073/pnas.0604505103. PMC 1568948. PMID 16912113.

[entrez-7] "Entrez Gene: BEST2 bestrophin 2".

[pmid_19398034-8] Marmorstein AD, Cross HE, Peachey NS (May 2009). "Functional roles of bestrophins in ocular epithelia". Prog Retin Eye Res. 28 (3): 206–226. doi:10.1016/j.preteyeres.2009.04.004. PMC 2740978. PMID 19398034.

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Bestrophin-2

Function[edit]

References[edit]

External links[edit]

Further reading[edit]

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