PACS2 - phosphofurin acidic cluster sorting protein 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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23241 PACS2

基因描述

Type	Description
Definition	phosphofurin acidic cluster sorting protein 2

研究结论

Date	Results	Publications
2020-05-23 12:17:00	These findings confirmed our previous research and expanded the mutational spectrum of WEE2, making it a potential genetic diagnostic marker for those suffering from human fertilization failure.	30684285
2019-12-21 10:28:00	the role of the multifunctional Mitochondria-associated endoplasmic reticulum membrane protein phosphofurin acidic cluster sorting protein 2 (PACS-2) in regulating Vascular Smooth Muscle Cell survival following a challenge by atherogenic lipids.	31242668
2019-06-01 11:46:00	Insulin acutely regulates SIRT1 activity by triggering recruitment of PACS-2 and DBC1 to the SIRT1 N terminal region creating a regulatory hub.	30415949
2018-12-22 12:01:00	These findings support the causality of this recurrent de novo PACS2 heterozygous missense in Developmental and epileptic encephalopathies with facial dysmorphim and cerebellar dysgenesis.	29656858
2018-03-17 12:09:00	Protein adaptation and the expanding roles of the PACS1 and PACS2 proteins in tissue homeostasis and disease has been summarized. (Review)	28476937

名称对应

Type	IDs
Synonymous	EIEE66, PACS-2, PACS1L
Gene	UniProtKB-ID: PACS2_HUMAN, Q8N7J0_HUMAN UniprotKB: Q86VP3, Q8N7J0 UniParc: UPI0000E56F01, UPI000006E6B8, UPI00020CE003, UPI0000F26547, UPI00001FDD1A EMBL: CH471061, AB011174, BC131591, BC065220, AK098354, BC010663, AY320284, AL928654, BC050351, AL512355 Ensembl: ENSG00000179364 KO: hsa:23241
Nucleutide sequences	EMBL-CDS: AAH10663.1, AAH65220.2, BAA25528.1, AAQ83882.2, AAI31592.1, AAH50351.2, EAW81917.1, BAC05290.1 Gene_ORFName: hCG_2029370 Ensembl_TRS: ENST00000430725, ENST00000325438, ENST00000447393
Protein sequencees	Ensembl_PRO: ENSP00000321834, ENSP00000393524, ENSP00000393559 RefSeq: XP_016876598.1, XP_016876601.1, XP_016876596.1, XP_006720155.1, XP_006720153.1, XP_016876595.1, XP_016876594.1, NP_001230056.1, XP_016876600.1, XP_006720154.1, XP_016876599.1, XP_016876597.1, NP_056012.2, NP_001094383.2
Others	UniRef100: UniRef100_Q86VP3, UniRef100_Q8N7J0 UniRef90: UniRef90_Q86VP3, UniRef90_Q8N7J0 UniRef50: UniRef50_Q86VP3, UniRef50_A0A2R8ZVD4 UniGene: Hs.525626 CCDS: CCDS32168.1, CCDS58339.1, CCDS45178.2

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
31741433	Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Elife Hao Zeng , Johnny Castillo-Cabrera , Mika Manser , Bo Lu , Zinger Yang , Vaik Strande , Damien Begue , Raffaella Zamponi , Shumei Qiu , Frederic Sigoillot , Qiong Wang , Alicia Lindeman , John S Reece-Hoyes , Carsten Russ , Debora Bonenfant , Xiaomo Jiang , Youzhen Wang , Feng Cong	2019-11-19	-
31242668	The Multifunctional Sorting Protein PACS-2 Controls Mitophagosome Formation in Human Vascular Smooth Muscle Cells through Mitochondria-ER Contact Sites. Cells Manon Moulis , Elisa Grousset , Julien Faccini , Kevin Richetin , Gary Thomas , Cecile Vindis	2019-06-25	-
30684285	Expanding the clinical spectrum associated with PACS2 mutations. Clin. Genet. Maria L Dentici , Sabina Barresi , Marcello Niceta , Andrea Ciolfi , Marina Trivisano , Andrea Bartuli , Maria C Digilio , Nicola Specchio , Bruno Dallapiccola , Marco Tartaglia	2019-04-01	-
30575818	Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. Oncogene Katrin Tiemann , Carolina Garri , Sang Bok Lee , Paymaneh D Malihi , Mincheol Park , Ruth M Alvarez , Li Peng Yap , Parag Mallick , Jonathan E Katz , Mitchell E Gross , Kian Kani	2019-04-01	-
30415949	An Insulin-Responsive Sensor in the SIRT1 Disordered Region Binds DBC1 and PACS-2 to Control Enzyme Activity. Mol Cell Troy C Krzysiak , Laurel Thomas , You-Jin Choi , Sylvain Auclair , Yiqi Qian , Shan Luan , Stephanie M Krasnow , Laura L Thomas , Leonardus M I Koharudin , Panayiotis V Benos , Daniel L Marks , Angela M Gronenborn , Gary Thomas	2018-12-20	-
29656858	A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am. J. Hum. Genet. Heather E Olson , Nolwenn Jean-MarÃ§ais , Edward Yang , Delphine Heron , Katrina Tatton-Brown , Paul A van der Zwaag , Emilia K Bijlsma , Bryan L Krock , E Backer , Erik-Jan Kamsteeg , Margje Sinnema , Margot R F Reijnders , David Bearden , Amber Begtrup , Aida Telegrafi , Roelineke J Lunsing , Lydie Burglen , Gaetan Lesca , Megan T Cho , Lacey A Smith , Beth R Sheidley , Christelle Moufawad El Achkar , Phillip L Pearl , Annapurna Poduri , Cara M Skraban , Jennifer Tarpinian , Addie I Nesbitt , Dietje E Fransen van de Putte , Claudia A L Ruivenkamp , Patrick Rump , Nicolas Chatron , Isabelle Sabatier , Julitta De Bellescize , Laurent Guibaud , David A Sweetser , Jessica L Waxler , Klaas J Wierenga , DDD Study , Jean Donadieu , Vinodh Narayanan , Keri M Ramsey , C4RCD Research Group , Caroline Nava , Jean-Baptiste RiviÃ¨re , Antonio Vitobello , FrÃ©dÃ©ric Tran Mau-Them , Christophe Philippe , Ange-Line Bruel , Yannis Duffourd , Laurel Thomas , Stefan H Lelieveld , Janneke Schuurs-Hoeijmakers , Han G Brunner , Boris Keren , Julien Thevenon , Laurence Faivre , Gary Thomas , Christel Thauvin-Robinet	2018-05-03	-
28867141	Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. Am. J. Hum. Genet. Stefan H Lelieveld , Laurens Wiel , Hanka Venselaar , Rolph Pfundt , Gerrit Vriend , Joris A Veltman , Han G Brunner , Lisenka E L M Vissers , Christian Gilissen	2017-09-07	-
28476937	Caught in the act - protein adaptation and the expanding roles of the PACS proteins in tissue homeostasis and disease. J. Cell. Sci. Gary Thomas , Joseph E Aslan , Laurel Thomas , Pushkar Shinde , Ujwal Shinde , Thomas Simmen	2017-06-01	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
26496610	A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , JÃ¼rgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , JÃ¶rg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann	2015-10-22	Cep85l, Rcc1, Zbtb48, Bsdc1, Kifc1, Ccp110, Ints4, Slc6a8, Cenpi, Nup107, Xpo1, Fbxw11, Tubg1, Csnk1d, Bap1, Ptpn23, Tecpr2, Slain1, Ankrd28, Prkaa1, Espl1, Gbf1, Cdc20, Cenpf, Trip11, Mbd5, Kif22, Dut, Srsf1, Actb, Spred2, Akt2, Mta1, Tgs1, Pip4k2c, Ankfy1, Apc, Ar, Rhoa, Atp2a2, Atp5a1, Atp7a, Cep131, Bach1, Bcl7c, Bmpr1a, Brca1, Bub1, Bub1b, C1qbp, Anxa2, Calu, Cbx1, Cbx4, Cct2, Cct3, Cct4, Cct7, Cct8, Cd2ap, Cdk1, Cdc37, Cdh1, Chek1, Cit, Copa, Crebbp, Cry1, Csk, Smc3, Dctn1, Ddb1, Cdk2ap1, Mapre1, Ect2, Eef1a1, Eif3a, Mark2, Evpl, Ewsr1, Wdr5, Dclre1b, Fbl, Fgfr1, Flot1, Flot2, B4galt1, Gnb1, Gspt1, Hdac6, Herc2, Hsf1, Hsph1, Elavl1, Id2, Cyr61, Cep250, Insr, Eif3e

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