FLVCR2 - feline leukemia virus subgroup C cellular receptor family member 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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55640 FLVCR2

基因描述

Type	Description
Definition	feline leukemia virus subgroup C cellular receptor family member 2

研究结论

Date	Results	Publications
2020-10-24 14:12:00	MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.	32973183
2016-10-22 11:24:00	Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy	25677735
2016-03-12 10:18:00	Mutations in FLVCR2 gene are responsible for Proliferative vasculopathy and Hydranencephaly-hydrocephaly syndrome. FLVCR2 transporter is gatekeeper for the controlled entry of calcium into cell, and involves the regulation of calcium metabolism.	25906927
2015-10-03 11:34:00	FLVCR2 mutation is associated with Hydranencephaly.	25131804
2011-01-29 11:27:00	High-throughput sequence data identified mutations and a large deletion in the FLVCR2 gene casuing lethal cerebral vasculopathy.	20690116

名称对应

Type	IDs
Synonymous	C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, SLC49A2
Gene	UniProtKB-ID: FLVC2_HUMAN UniprotKB: Q9UPI3 UniParc: UPI0001915008, UPI0000073CD6 EMBL: AC007182, AK297002, AK027804, AF456126, AY260577, BC019087, AY260572, CH471061, AK000378 Ensembl: ENSG00000119686 KO: hsa:55640
Nucleutide sequences	EMBL-CDS: AAO15528.1, AAP86633.1, AAD51374.1, AAH19087.1, BAB55381.1, EAW81235.1, BAH12471.1, BAA91126.1, AAP86638.1 Ensembl_TRS: ENST00000238667, ENST00000539311
Protein sequencees	Ensembl_PRO: ENSP00000443439, ENSP00000238667 RefSeq: NP_060261.2, NP_001182212.1
Others	UniRef100: UniRef100_Q9UPI3 UniRef90: UniRef90_Q9UPI3 UniRef50: UniRef50_Q9UPI3 UniGene: Hs.509966, Hs.615289 CCDS: CCDS55933.1, CCDS9844.1

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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
32973183	MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme. Nat Commun Yingzhong Li , Nikola A Ivica , Ting Dong , Dimitrios P Papageorgiou , Yanpu He , Douglas R Brown , Marianna Kleyman , Guangan Hu , Walter W Chen , Lucas B Sullivan , Amanda Del Rosario , Paula T Hammond , Matthew G Vander Heiden , Jianzhu Chen	2020-09-24	-
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	-
25677735	Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. Clin. Genet. M Kvarnung , F Taylan , D Nilsson , M AlbÃ¥ge , M NordenskjÃ¶ld , B M Anderlid , A Nordgren , E Syk Lundberg	2016-01-01	-
25906927	Genetics and molecular biology of brain calcification. Ageing Res. Rev. Hao Deng , Wen Zheng , Joseph Jankovic	2015-07-01	TREX1, FLVCR2, SLC20A2, RNASEH2B, CTC1
25131804	Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine. Birth Defects Res. Part A Clin. Mol. Teratol. Erica L Soster , Megan Tucker , Luis F Escobar , Gail H Vance	2015-01-01	FLVCR2
22658674	Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell Alfredo Castello , Bernd Fischer , Katrin Eichelbaum , Rastislav Horos , Benedikt M Beckmann , Claudia Strein , Norman E Davey , David T Humphreys , Thomas Preiss , Lars M Steinmetz , Jeroen Krijgsveld , Matthias W Hentze	2012-06-08	GNPDA1, SCARNA27, GABPB1-AS1, NFYC-AS1, FKSG29, PHKA2-AS1, HDAC6, PDCD6, C17orf96, LOC100287042, MIR3652, ARPC4-TTLL3, ATP5J2-PTCD1, TGIF2-C20orf24, FARSB, ABCC5, ABCF2, HUWE1, ARPC4, ARPC1B, ACTR3, ACTR1A, LRPPRC, TRAP1, BCAP31, NAMPT, RBM12, TOB1, G3BP1, SUGP2, MBNL2, ABI2, CEBPZ, ATP6AP2, SLC25A15, RCL1, RBM7, RBM6, RBM5, ALYREF, PSME3, MPHOSPH10, NUTF2, USPL1, DDX39A, STX6, HNRNPR, MRPS31, RIDA, SF3B4, AKAP8, STUB1, SIGMAR1, SMNDC1, BCAS2, SF3A1, CDKN2A, APBB3, SMYD5, ADAR, EMC8, NPM3, HMG20A, NOD1, RACK1, NDC80, NSA2, YAP1, CD2BP2, TUBGCP3, RBM14, EMG1, ACAA2, PPIE, TAB1, MAD2L2, PIBF1, SLC25A17, NXF1, CREB3, LRRC41, SYNCRIP, ENOX2, MYBBP1A, DDX17, ADARB2, CHERP, HYOU1, IPO8, NOP56, RNASEH2A, GLRX3, DCTN2, LAMTOR5, PRDX4, AGPAT1, RPP30, SLU7, MRPL28
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	-
20823265	The Fowler syndrome-associated protein FLVCR2 is an importer of heme. Mol. Cell. Biol. Simon P Duffy , Jennifer Shing , Punit Saraon , Lloyd C Berger , Maribeth V Eiden , Andrew Wilde , Chetankumar S Tailor	2010-11-01	FLVCR2
20690116	High-throughput sequencing of a 4.1âMb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat Sophie Thomas , FerechtÃ© Encha-Razavi , Louise Devisme , Heather Etchevers , Bettina Bessieres-Grattagliano , GÃ©raldine Goudefroye , Nadia Elkhartoufi , Emilie Pateau , Amale Ichkou , Maryse BonniÃ¨re , Pascale Marcorelle , Philippe Parent , Sylvie Manouvrier , Muriel Holder , Annie LaquerriÃ¨re , Laurence Loeuillet , Joelle Roume , Jelena Martinovic , Soumaya Mougou-Zerelli , Marie Gonzales , Vincent Meyer , Marc Wessner , Christine Bole Feysot , Patrick Nitschke , Nadia Leticee , Arnold Munnich , Stanislas Lyonnet , Peter Wookey , Gabor Gyapay , Bernard Foliguet , Michel Vekemans , Tania AttiÃ©-Bitach	2010-10-01	-
20206334	Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Am. J. Hum. Genet. Esther Meyer , Christopher Ricketts , Neil V Morgan , Mark R Morris , Shanaz Pasha , Louise J Tee , Fatimah Rahman , Anne Bazin , Bettina BessiÃ¨res , Pierre DÃ©chelotte , Mohamed T Yacoubi , Mudher Al-Adnani , Tamas Marton , David Tannahill , Richard C Trembath , Catherine Fallet-Bianco , Phillip Cox , Denise Williams , Eamonn R Maher	2010-03-12	-

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