RIN2 - Ras and Rab interactor 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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54453 RIN2

基因描述

Type	Description
Definition	Ras and Rab interactor 2

研究结论

Date	Results	Publications
2020-10-03 12:53:00	Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.	30769224
2019-06-01 10:16:00	Rab5 as a novel regulator of calpain2 activity and focal adhesion proteolysis leading to cell migration	29099266
2017-10-21 12:15:00	we describe a 10th patient, the first patient of Caucasian origin and the oldest reported patient so far, who harbors the previously identified homozygous RIN2 mutation c.1878dupC (p. (Ile627Hisfs*7)). Besides the hallmark features, this patient also presents problems not previously associated with RIN2 syndrome, including cervical vertebral fusion, mild hearing loss, and colonic fibrosis.	27277385
2014-09-13 12:35:00	We describe the fourth family with RIN2 syndrome in two siblings with a novel homozygous mutation in the RIN2 gene and exhibiting additional clinical features that may also contribute to further delineation of the phenotypic spectrum.	24449201
2010-07-05 11:46:00	These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders.	20424861

名称对应

Type	IDs
Synonymous	MACS, RASSF4
Gene	UniProtKB-ID: RIN2_HUMAN, A1A4T0_HUMAN UniprotKB: Q8WYP3, A1A4T0 UniParc: UPI0000133929, UPI0000EA26DA, UPI00004709D0 EMBL: AL136924, AB060339, AK094884, AL132821, M37190, AL049538, BC128065 Ensembl: ENSG00000132669 KO: hsa:54453
Nucleutide sequences	EMBL-CDS: BAB84317.1, AAA36553.1, CAB66858.1, AAI28066.1 Ensembl_TRS: ENST00000648440, ENST00000255006
Protein sequencees	Ensembl_PRO: ENSP00000255006, ENSP00000498085 RefSeq: XP_016883380.1, XP_011527557.2, XP_006723637.1, XP_016883378.1, XP_005260788.1, XP_024307680.1, XP_011527560.1, XP_024307679.1, XP_016883382.1, XP_024307681.1, XP_011527561.1, NP_061866.1, NP_001365167.1, XP_016883376.1, XP_016883381.1, XP_011527559.1, XP_016883379.1, XP_016883377.1, XP_006723640.1, NP_001229510.1
Others	UniRef100: UniRef100_Q8WYP3, UniRef100_A1A4T0 UniRef90: UniRef90_A0A5F4BTK9, UniRef90_Q8WYP3 UniRef50: UniRef50_A0A5F4BTK9, UniRef50_Q8WYP3 UniGene: Hs.472270 CCDS: CCDS56182.1

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mRNA

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Pubmed编号	文献信息	发表日期	相关基因
30769224	Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. Eur J Med Genet Reyhaneh Kameli , Mahmoud Reza Ashrafi , Farveh Ehya , Houman Alizadeh , Sareh Hosseinpour , Masoud Garshasbi , Ali Reza Tavasoli	2020-01-01	-
29099266	Calpain2 mediates Rab5-driven focal adhesion disassembly and cell migration. Cell Adh Migr Pablo A Mendoza , Patricio Silva , Jorge DÃaz , Cecilia Arriagada , Jimena Canales , Oscar Cerda , Vicente A Torres	2018-05-04	-
29509190	Quantitative mapping of RNA-mediated nuclear estrogen receptor Î² interactome in human breast cancer cells. Sci Data Giorgio Giurato , Giovanni Nassa , Annamaria Salvati , Elena Alexandrova , Francesca Rizzo , Tuula A Nyman , Alessandro Weisz , Roberta Tarallo	2018-03-06	-
29507755	VIRMA mediates preferential m⁶A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Cell Discov Yanan Yue , Jun Liu , Xiaolong Cui , Jie Cao , Guanzheng Luo , Zezhou Zhang , Tao Cheng , Minsong Gao , Xiao Shu , Honghui Ma , Fengqin Wang , Xinxia Wang , Bin Shen , Yizhen Wang , Xinhua Feng , Chuan He , Jianzhao Liu	2018-01-01	-
28986522	Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Nat Commun Giulia Antoniali , Fabrizio Serra , Lisa Lirussi , Mikiei Tanaka , Chiara D'Ambrosio , Shiheng Zhang , Slobodanka Radovic , Emiliano Dalla , Yari Ciani , Andrea Scaloni , Mengxia Li , Silvano Piazza , Gianluca Tell	2017-10-06	-
28611215	Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Proc. Natl. Acad. Sci. U.S.A. Teng Fei , Yiwen Chen , Tengfei Xiao , Wei Li , Laura Cato , Peng Zhang , Maura B Cotter , Michaela Bowden , Rosina T Lis , Shuang G Zhao , Qiu Wu , Felix Y Feng , Massimo Loda , Housheng Hansen He , X Shirley Liu , Myles Brown	2017-06-27	-
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	-
27277385	RIN2 syndrome: Expanding the clinical phenotype. Am J Med Genet A Simonetta Rosato , Delfien Syx , Ivan Ivanovski , Marzia Pollazzon , Daniela Santodirocco , Loredana De Marco , Marina Beltrami , Bert Callewaert , Livia Garavelli , Fransiska Malfait	2016-09-01	-
24322204	Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. Mol. Psychiatry S J Winham , A B Cuellar-Barboza , A Oliveros , S L McElroy , S Crow , C Colby , D-S Choi , M Chauhan , M Frye , J M Biernacka	2014-09-01	EFCAB10, CDH4, SEPHS1P2, MIR4778, LOC101927430, LOC102724068, TMEM132B, TSHZ2, CLHC1, CFAP57, PDZD2, ALOX12P2, NAALADL2, FAM19A5, TRIM42, GYPA, MARCKS, WWOX, RIN2, PUS7, SLC25A36, MCTP2, JPH3, CDH23, LOC643542, FBXL17, TCF7L2, ADAM19
24449201	Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. Am J Med Genet A Ayca D Aslanger , Umut Altunoglu , Emre Aslanger , Bilge N SatkÄ±n , Zehra Oya Uyguner , HÃ¼lya Kayserili	2014-02-01	-

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