FREM2 - FRAS1 related extracellular matrix protein 2-BMKCloudï½ç¾è¿å®¢äº

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341640 FREM2

基因描述

Type	Description
Definition	FRAS1 related extracellular matrix protein 2

研究结论

Date	Results	Publications
2020-02-15 11:58:00	Our findings extend the spectrum of FREM2 mutations, and provide insights into opportunities for the prenatal diagnosis of isolated cryptophthalmos. Furthermore, our work highlights the importance of the FREM2 protein during the development of eyelids and the anterior segment of the eyeballs, establishes a suitable animal model for studying epithelial reopening during eyelid development and serves as a valuable reference	30802441
2019-03-02 12:09:00	Based on these data, we conclude that deficiency of FREM2, and possibly FRAS1, are associated with an increased risk of developing Congenital diaphragmatic hernia (CDH) and that loss of the FREM1/FREM2/FRAS1 complex, or its function, leads to anterior sac CDH development through its effects on mesothelial fold progression	29618029
2019-02-23 10:34:00	Our results showed that p.Arg2167Trp had a weaker effect in interrupting interactions between FREM2 and FREM1 than FS-associated missense mutation p.Glu1972Lys. Overall, our data demonstrate that the homozygous mutation p.Arg2167Trp in FREM2 causes isolated Cryptophthalmos(CO), which will facilitate our better understanding of the molecular mechanisms underlying the disease	29688405
2018-09-22 10:07:00	FREM2 is thus proposed as a novel GB biomarker and a putative biomarker of glioblastoma stem cells. Both FREM2 and SPRY1 are expressed on the surface of the GB cells, while SPRY1 alone was found overexpressed in the cytosol of non-malignant astrocytes.	29734672
2014-11-22 12:35:00	In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.	24700879

名称对应

Type	IDs
Synonymous	FRASRS2
Gene	UniProtKB-ID: FREM2_HUMAN UniprotKB: Q5SZK8 UniParc: UPI00005520B9, UPI000057680F EMBL: BN000687, BX640686, CR933724, AK127571, BX538150, BX538304, AC017111, AL354819, AL590007 Ensembl: ENSG00000150893 KO: hsa:341640
Nucleutide sequences	EMBL-CDS: CAE45813.1, CAD98088.1, CAH56764.1, BAC87040.1, CAD98036.1, CAI46253.1 Ensembl_TRS: ENST00000280481
Protein sequencees	Ensembl_PRO: ENSP00000280481 RefSeq: NP_997244.4, XP_016876043.1
Others	UniRef100: UniRef100_Q5SZK8 UniRef90: UniRef90_Q5SZK8 UniRef50: UniRef50_Q5SZK8 UniGene: Hs.253994 CCDS: CCDS31960.1

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UniprotKB

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全选

Pubmed编号	文献信息	发表日期	相关基因
30802441	Loss-of-function mutations in FREM2 disrupt eye morphogenesis. Exp. Eye Res. Xiayin Zhang , Dongni Wang , Meimei Dongye , Yi Zhu , Chuan Chen , Ruixin Wang , Erping Long , Zhenzhen Liu , Xiaohang Wu , Duoru Lin , Jingjing Chen , Zhuoling Lin , Jinghui Wang , Wangting Li , Yang Li , Dongmei Li , Haotian Lin	2019-04-01	-
30561431	A protein-protein interaction map of the TNF-induced NF-ÎºB signal transduction pathway. Sci Data Emmy Van Quickelberghe , Delphine De Sutter , Geert van Loo , Sven Eyckerman , Kris Gevaert	2018-12-18	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
29688405	A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. Hum Mol Genet Qian Yu , Bingying Lin , Shangqian Xie , Song Gao , Wei Li , Yizhi Liu , Hongwei Wang , Danping Huang , Zhi Xie	2018-07-01	-
29618029	The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet Valerie K Jordan , Tyler F Beck , Andres Hernandez-Garcia , Peter N Kundert , Bum-Jun Kim , Shalini N Jhangiani , Tomasz Gambin , Molly Starkovich , Jaya Punetha , Ingrid S Paine , Jennifer E Posey , Alexander H Li , Donna Muzny , Chih-Wei Hsu , Amber J Lashua , Xin Sun , Caraciolo J Fernandes , Mary E Dickinson , Kevin P Lally , Richard A Gibbs , Eric Boerwinkle , James R Lupski , Daryl A Scott	2018-06-15	-
29676528	E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. FEBS J. Richa Khanna , Vidhya Krishnamoorthy , Veena K Parnaik	2018-06-01	-
29734672	Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates. Int J Mol Sci Marko Vidak , Ivana Jovcevska , Neja Samec , Alja Zottel , Mirjana Liovic , Damjana Rozman , Saso Dzeroski , Peter Juvan , Radovan Komel	2018-05-04	-
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	-
26186194	The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin WÃ¼hr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi	2015-07-16	-
24700879	Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol Stefan Kohl , Daw-Yang Hwang , Gabriel C Dworschak , Alina C Hilger , Pawaree Saisawat , Asaf Vivante , Natasa Stajic , Radovan Bogdanovic , Heiko M Reutter , Elijah O Kehinde , Velibor Tasic , Friedhelm Hildebrandt	2014-09-01	-

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