Bestrophin-2 (original) (raw)

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Protein-coding gene in the species Homo sapiens

BEST2
Identifiers
Aliases	BEST2, VMD2L1, bestrophin 2
External IDs	OMIM: 607335; MGI: 2387588; HomoloGene: 41187; GeneCards: BEST2; OMA:BEST2 - orthologs
Gene location (Human)Chr.Chromosome 19 (human)[1]Band19p13.13Start12,751,702 bp[1]End12,758,458 bp[1]
Gene location (Mouse)Chr.Chromosome 8 (mouse)[2]Band8|8 C3Start85,733,831 bp[2]End85,741,160 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inmucosa of transverse colonmucosa of sigmoid colonrectumskin of abdomenmucosa of ileumskin of legskin of thighepithelium of colonputamenamygdalaTop expressed inciliary bodyleft colonirisprimary oocyteembryosecondary oocytezygoteembryoliplensMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez54831212989EnsemblENSG00000039987ENSMUSG00000052819UniProtQ8NFU1Q8BGM5RefSeq (mRNA)NM_017682NM_001130194RefSeq (protein)NP_060152NP_001123666Location (UCSC)Chr 19: 12.75 – 12.76 MbChr 8: 85.73 – 85.74 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000039987 – Ensembl, May 2017
2. ^ a b c 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.
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.
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.
7. ^ a b "Entrez Gene: BEST2 bestrophin 2".
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.

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

• 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.