BEST3 - bestrophin 3-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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144453 BEST3

基因描述

Type	Description
Definition	bestrophin 3

研究结论

Date	Results	Publications
2020-07-04 10:51:00	whole-exome sequencing implicates a rare non-synonymous single-nucleotide variants of BEST3 as a candidate for mandibular prognathism in the Japanese pedigree.	30849546
2015-07-04 11:00:00	results demonstrated that Best-3 is an endogenous inhibitor of NF-kappaB signaling pathway in endothelial cells, suggesting that forced Best-3 expression may be a novel approach for the treatment of vascular inflammatory diseases.	25329324
2010-01-21 00:00:00	identified three novel VMD2-related human genes demonstrating a high degree of conservation in their respective RFP-TM domains [VMD2L1, VMD2L2, VMD2L3]	12032738
2010-01-21 00:00:00	These results suggest that an auto-inhibitory mechanism in C termini of bestrophin 3 may be universal among bestrophins investigated in the study.	17442670
2010-01-21 00:00:00	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.	19237432

名称对应

Type	IDs
Synonymous	VMD2L3
Gene	UniProtKB-ID: BEST3_HUMAN UniprotKB: Q8N1M1 UniParc: UPI000021FC59, UPI000006E0B6, UPI000006E397, UPI000006CEA2, UPI00020CE24B EMBL: BC151138, AC016153, AF440758, AY515706, AC018921, AK096459, AC025263, BC006440 Ensembl: ENSG00000127325 KO: hsa:144453
Nucleutide sequences	EMBL-CDS: AAM76997.1, BAC04797.1, AAR99656.1, AAH06440.1 Ensembl_TRS: ENST00000330891, ENST00000553096, ENST00000488961, ENST00000551160, ENST00000331471, ENST00000266661
Protein sequencees	Ensembl_PRO: ENSP00000332413, ENSP00000449377, ENSP00000329064, ENSP00000266661, ENSP00000449548, ENSP00000433213 RefSeq: NP_001269545.1, NP_001269544.1, XP_011536267.1, NP_689652.2, XP_011536264.1, XP_011536265.1, XP_011536263.1, NP_116124.2, NP_001269542.1, NP_001269543.1
Others	UniRef100: UniRef100_Q8N1M1 UniRef90: UniRef90_Q8N1M1 UniRef50: UniRef50_Q8N1M1 UniGene: Hs.280782 CCDS: CCDS73496.1, CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Location

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Pubmed编号	文献信息	发表日期	相关基因
32296183	A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G CotÃ© , Meaghan Daley , Steven Deimling , Alice Desbuleux , AmÃ©lie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , IstvÃ¡n A KovÃ¡cs , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood	2020-04-01	-
30849546	Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism. Bone Takashi S Kajii , Akira Oka , Fumio Saito , Jun Mitsui , Junichiro Iida	2019-05-01	-
25329324	Bestrophin 3 ameliorates TNFÎ±-induced inflammation by inhibiting NF-ÎºB activation in endothelial cells. PLoS ONE Wei Song , Zhen Yang , Ben He	2014-01-01	Best3, BEST3
22863734	Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat. Genet. Kerstin U Ludwig , Elisabeth Mangold , Stefan Herms , Stefanie Nowak , Heiko Reutter , Anna Paul , Jessica Becker , Ruth Herberz , Taofik AlChawa , Entessar Nasser , Anne C BÃ¶hmer , Manuel Mattheisen , Margrieta A Alblas , Sandra Barth , Nadine Kluck , Carola Lauster , Bert Braumann , Rudolf H Reich , Alexander Hemprich , Simone PÃ¶tzsch , Bettina Blaumeiser , Nikolaos Daratsianos , Thomas Kreusch , Jeffrey C Murray , Mary L Marazita , Ingo Ruczinski , Alan F Scott , Terri H Beaty , Franz-Josef Kramer , Thomas F Wienker , Regine P Steegers-Theunissen , Michele Rubini , Peter A Mossey , Per Hoffmann , Christoph Lange , Sven Cichon , Peter Propping , Michael Knapp , Markus M NÃ¶then	2012-09-01	OFC12, SPRY2, SEMA4D, FILIP1L, ACOT12, BEST3, EPHA3, CADM1, ARHGAP8, ABCA4, IRF6, OFC1, PAX7, PRR5-ARHGAP8, SHTN1, THADA, TPM1, ZIC2, CMSS1, NTN1
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-
19237432	Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1. J Physiol Laura L Marsey , John P Winpenny	2009-05-15	-
17442670	Activation of bestrophin Cl- channels is regulated by C-terminal domains. J Biol Chem Zhi Qiang Qu , Kuai Yu , Yuan Yuan Cui , Carl Ying , Criss Hartzell	2007-06-15	-
16344560	Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome Res. Kouichi Kimura , Ai Wakamatsu , Yutaka Suzuki , Toshio Ota , Tetsuo Nishikawa , Riu Yamashita , Jun-ichi Yamamoto , Mitsuo Sekine , Katsuki Tsuritani , Hiroyuki Wakaguri , Shizuko Ishii , Tomoyasu Sugiyama , Kaoru Saito , Yuko Isono , Ryotaro Irie , Norihiro Kushida , Takahiro Yoneyama , Rie Otsuka , Katsuhiro Kanda , Takahide Yokoi , Hiroshi Kondo , Masako Wagatsuma , Katsuji Murakawa , Shinichi Ishida , Tadashi Ishibashi , Asako Takahashi-Fujii , Tomoo Tanase , Keiichi Nagai , Hisashi Kikuchi , Kenta Nakai , Takao Isogai , Sumio Sugano	2006-01-01	Nefm, MED6, CDH2, PDZK1P1, DDTL, ABI1, GNPDA1, GTF2IP4, ZSCAN30, SRA1, TMEM170B, HOTAIR, FAM86JP, LOC100126784, C8orf88, LOC100128006, RAB28P5, MYHAS, CDC42P3, LOC100128979, LOC100128993, KTN1-AS1, LOC100129083, LOC100129204, TOPORS-AS1, LINC00484, ZNF37BP, FAM47E, MRVI1-AS1, ZNF737, LOC100130075, MAPT-IT1, MIR124-2HG, LINC00861, LOC100130238, LOC100130357, PARD6G-AS1, LOC100130547, NFYC-AS1, EFCAB10, LOC100130798, SBK3, LOC100130849, LOC100130872, LOC100130880, LOC100130987, LOC100131047, LINC01135, CKMT2-AS1, ZBTB20-AS1, WDR86-AS1, CCDC183-AS1, SNAP25-AS1, NEMP2, ZNF503-AS2, MIR181A1HG, DBIL5P, HDAC6, MZF1-AS1, ARMCX4, LINC00271, ZNF717, LOC100132057, LOC100132111, CALML3-AS1, NDUFA6-AS1, FRG1HP, FCGR1CP, GXYLT1P3, GOLGA8F, DCAF13P3, IPO5P1, MSC-AS1, SMIM9, FAM66A, CD24, UXT-AS1, JHDM1D-AS1, UBE2Q2P2, TEN1, JMJD7, PLA2G4B, LINC00930, PDCD6IP, HECTD2-AS1, ZFHX4-AS1, FAR2P2, LOC100233156, PCED1B-AS1, PIGK, LOC100270746, LOC100270804, LINC00940, ERVV-2, MEF2B, ZNRF2P2, NFE2L3P2, LINC00894, BCDIN3D-AS1
15489334	The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. Daniela S Gerhard , Lukas Wagner , Elise A Feingold , Carolyn M Shenmen , Lynette H Grouse , Greg Schuler , Steven L Klein , Susan Old , Rebekah Rasooly , Peter Good , Mark Guyer , Allison M Peck , Jeffery G Derge , David Lipman , Francis S Collins , Wonhee Jang , Steven Sherry , Mike Feolo , Leonie Misquitta , Eduardo Lee , Kirill Rotmistrovsky , Susan F Greenhut , Carl F Schaefer , Kenneth Buetow , Tom I Bonner , David Haussler , Jim Kent , Mark Kiekhaus , Terry Furey , Michael Brent , Christa Prange , Kirsten Schreiber , Nicole Shapiro , Narayan K Bhat , Ralph F Hopkins , Florence Hsie , Tom Driscoll , M Bento Soares , Tom L Casavant , Todd E Scheetz , Michael J Brown-stein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Yulan Piao , Dawood B Dudekula , Minoru S H Ko , Koichi Kawakami , Yutaka Suzuki , Sumio Sugano , C E Gruber , M R Smith , Blake Simmons , Troy Moore , Richard Waterman , Stephen L Johnson , Yijun Ruan , Chia Lin Wei , S Mathavan , Preethi H Gunaratne , Jiaqian Wu , Angela M Garcia , Stephen W Hulyk , Edwin Fuh , Ye Yuan , Anna Sneed , Carla Kowis , Anne Hodgson , Donna M Muzny , John McPherson , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madari , Alice C Young , Keith D Wetherby , Steven J Granite , Peggy N Kwong , Charles P Brinkley , Russell L Pearson , Gerard G Bouffard , Robert W Blakesly , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Malachi Griffith , Obi L Griffith , Martin I Krzywinski , Nancy Liao , Ryan Morin , Ryan Morrin , Diana Palmquist , Anca S Petrescu , Ursula Skalska , Duane E Smailus , Jeff M Stott , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Robert A Holt , Agnes Baross , Marco A Marra , Sandra Clifton , Kathryn A Makowski , Stephanie Bosak , Joel Malek , MGC Project Team	2004-10-01	Ldlrap1, Dnajc3, Rnaset2a, Btnl1, Isg15, Cyp3a41b, Ly6c2, Ccl21b, Eif3j2, Mup18, Lrrc19, Rcc1, 1700047I17Rik2, Pcsk9, Adat3, Tdrd7, Sco2, Gpr153, Pafah2, Gm44504, H6pd, Adprhl2, Gpn2, Rusc2, Stx12, Ppp1r8, Smpdl3b, Fam46b, Bsdc1, Slc44a1, Zfand2a, Rubcn, Kifc1, Pifo, C030017K20Rik, Cbarp, Rpl5, Micalcl, Atg14, Lrrc8c, Noc4l, Nsun5, Psph, Trrap, Mapre3, Ube3c, Tbc1d14, Hscb, Tyw1, Emilin1, Rab28, Pot1a, Parp11, Tada3, Tra2a, Brk1, Fbxl14, Phrf1, Plekha1, Gm21975, Ric8a, Mob2, Prkd2, Ccp110, Vrk3, Grwd1, Nlrp6, Trim68, Psip1, Spred3, Faap24, Ints4, Rrp8, Unc45a, Igflr1, Sf3b3, D8Ertd738e, Usb1, Champ1, Smim19, Exoc8, Gadd45gip1, Phkb, Dohh, Fam192a, Enkd1, Taf5l, Zdhhc7, Snapc2, Ak6, Gpat4, Dcun1d2, Ankrd10, Cog4, Hinfp, Lars2, Xylb, Imp3, Cmtm7
15342556	Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Genome Res. Yutaka Suzuki , Riu Yamashita , Matsuyuki Shirota , Yuta Sakakibara , Joe Chiba , Junko Mizushima-Sugano , Kenta Nakai , Sumio Sugano	2004-09-01	GNE, HCN4, GPR75-ASB3, LOC100507431, ZHX1-C8orf76, NR1H3, SERF2, LOC101929134, RNF41, CDK5, NUTF2, RCAN2, GLYAT, RAMP3, SMIM11B, CT45A8, NET1, NMUR1, TNIP1, SIRPB1, EMC8, BTN2A2, DLC1, ATP8A1, TUBGCP3, EMG1, TOMM40, CEACAM5, SEC23B, UNC13B, APPBP2, FBLN5, DDX17, HYOU1, ATG7, BATF, GLRX3, HTATIP2, RPP38, PDLIM5, ERLIN1, TGOLN2, POLR3G, POSTN, IGF2BP1, DMRT2, CELF2, CCT6B, CCT8, POLQ, NUDC, PTGES3, PLK4, POP4, NEK6, GJB6, UTP14A, FRS2, USP20, CD300C, WDR3, DHRS4, BLCAP, SUGT1, POP1, C11orf58, TMED2, SLC38A3, IL24, ATF7, RAB35, LILRA2, UBE2C, CYB561D2, RPP14, CHEK1, HIBADH, FOXN3, RCAN3, SLC7A9, HHLA2, ERLIN2, FAM107A, CHIT1, IRAK3, AKAP10, DUSP10, CA5B, SAT2, FILIP1L, GLMP, WDR89, PARK7, ADCY7, VSIG4, MGLL, SMIM12, SYNPO, HENMT1

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