TMEM87B - transmembrane protein 87B-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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84910 TMEM87B

基因描述

Type	Description
Definition	transmembrane protein 87B

研究结论

Date	Results	Publications
2016-03-26 10:55:00	Heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome.	24694933

名称对应

Type	IDs
Gene	UniProtKB-ID: TM87B_HUMAN UniprotKB: Q96K49 UniParc: UPI0000D5B977, UPI000004B634 EMBL: AK027587, BC115373, AC092645, AK290294, AC093675 Ensembl: ENSG00000153214 KO: hsa:84910
Nucleutide sequences	EMBL-CDS: BAF82983.1, AAY24214.1, AAI15374.1, BAB55214.1 Ensembl_TRS: ENST00000283206
Protein sequencees	Ensembl_PRO: ENSP00000283206 RefSeq: NP_116213.1, XP_016860610.1, NP_001316843.1, XP_005263884.1
Others	UniRef100: UniRef100_Q96K49 UniRef90: UniRef90_Q96K49 UniRef50: UniRef50_Q96K49 UniGene: Hs.656298 CCDS: CCDS33275.1

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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
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	-
30232004	ÎNp63Î± Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Cell Rep Christopher G Abraham , Michael P Ludwig , Zdenek Andrysik , Ahwan Pandey , Molishree Joshi , Matthew D Galbraith , Kelly D Sullivan , Joaquin M Espinosa	2018-09-18	-
29987050	Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Proc. Natl. Acad. Sci. U.S.A. Tengfei Xiao , Wei Li , Xiaoqing Wang , Han Xu , Jixin Yang , Qiu Wu , Ying Huang , Joseph Geradts , Peng Jiang , Teng Fei , David Chi , Chongzhi Zang , Qi Liao , Jonathan Rennhack , Eran Andrechek , Nanlin Li , Simone Detre , Mitchell Dowsett , Rinath M Jeselsohn , X Shirley Liu , Myles Brown	2018-07-31	-
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	-
27148590	Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud Hung-Chun Yu , Curtis R Coughlin , Elizabeth A Geiger , Blake J Salvador , Ellen R Elias , Jean L Cavanaugh , Kathryn C Chatfield , Shelley D Miyamoto , Tamim H Shaikh	2016-05-01	-
26227573	Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. Am J Med Genet A Kacie N Riley , Lisa M Catalano , John A Bernat , Stacie D Adams , Donna M Martin , Seema R Lalani , Ankita Patel , Rachel D Burnside , Jeffrey W Innis , M Katharine Rudd	2015-11-01	-
26157166	Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport. Mol Biol Cell Tetsuya Hirata , Morihisa Fujita , Shota Nakamura , Kazuyoshi Gotoh , Daisuke Motooka , Yoshiko Murakami , Yusuke Maeda , Taroh Kinoshita	2015-09-01	-
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	-
26236398	A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Mol Cytogenet Eva Hladilkova , Tuva BarÃ¸y , Madeleine Fannemel , Vladimira Vallova , Doriana Misceo , Vesna Bryn , Iva Slamova , Sarka Prasilova , Petr Kuglik , Eirik Frengen	2015-01-01	-
24694933	Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. Hum Mol Genet Mark W Russell , Maide O Raeker , Sarah B Geisler , Peedikayil E Thomas , Tracy A Simmons , John A Bernat , Thor Thorsson , Jeffrey W Innis	2014-08-15	-

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