RAX2 - retina and anterior neural fold homeobox 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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84839 RAX2

基因描述

Type	Description
Definition	retina and anterior neural fold homeobox 2

研究结论

Date	Results	Publications
2015-09-12 11:05:00	A frameshift heterozygous mutation in RAX2 inherited in an autosomal dominant fashion was associated with mixed cone and rod dysfunction.	25789692
2010-04-07 21:40:00	Observational study of gene-disease association. (HuGE Navigator)	20237496

名称对应

Type	IDs
Synonymous	ARMD6, CORD11, QRX, RAXL1
Gene	UniProtKB-ID: RAX2_HUMAN UniprotKB: Q96IS3 UniParc: UPI000006DD5E EMBL: BC032512, AC005777, BC018709, AY211277, BC007284 Ensembl: ENSG00000173976 KO: hsa:84839
Nucleutide sequences	EMBL-CDS: AAP41547.1, AAH18709.1, AAH32512.1, AAH07284.1 Ensembl_TRS: ENST00000555978, ENST00000555633
Protein sequencees	Ensembl_PRO: ENSP00000450687, ENSP00000450456 RefSeq: NP_001306003.2, NP_116142.1
Others	UniRef100: UniRef100_Q96IS3 UniRef90: UniRef90_Q96IS3 UniRef50: UniRef50_Q96IS3 UniGene: Hs.532691 CCDS: CCDS12112.1

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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
25789692	Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation. JAMA Ophthalmol Paul Yang , Pei-Wen Chiang , Richard G Weleber , Mark E Pennesi	2015-06-01	-
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	-
20237496	New genetic associations detected in a host response study to hepatitis B vaccine. Genes Immun. S Davila , F E M Froeling , A Tan , C Bonnard , G J Boland , H Snippe , M L Hibberd , M Seielstad	2010-04-01	SH2B3, MICA, NR1H3, TSPAN2, NAMPT, PRG4, KLRG1, CD96, EFS, APC2, LAMC3, CRISP3, TLR6, CLEC10A, SEMA4D, CEBPG, PROCR, PRDX4, IFI44, CXCL13, GNLY, COLEC10, SH2B2, CD226, TNFSF13B, NFAT5, KLRA1P, CFHR4, CFHR3, C1QL1, EDAR, MAGED2, PRDX3, IFI44L, LILRB5, LILRB4, LILRA1, LILRA2, DUS4L, ESM1, FGFR1OP, FAF1, CD160, RASSF1, IRAK3, IL17F, CHRM1, CD300A, COPE, KIF12, CMTM1, SIGLEC11, NLRP3, TIRAP, PGLYRP2, PGLYRP3, SLAMF6, FCRL1, FCRL3, GBP4, GBP5, TNFRSF13C, FOXP4, IL22RA2, DEFB118, CLC, ADD1, SFXN4, IFI27L1, CCR3, CCR4, CCR5, CCR7, CCR8, ACKR2, CMKLR1, CCDC78, CD300LB, OSCAR, ANKLE1, GABPB2, CNTFR, COL4A3, COL4A4, BPIFB6, ZPLD1, KLF6, IL31RA, PPARGC1B, RAET1E, ADORA2B, SSC4D, CR1, PXDNL, CR2, CREB1, CREM, GAB3, CRP
19274049	A census of human transcription factors: function, expression and evolution. Nat Rev Genet Juan M Vaquerizas , Sarah K Kummerfeld , Sarah A Teichmann , Nicholas M Luscombe	2009-04-01	-
15028672	QRX, a novel homeobox gene, modulates photoreceptor gene expression. Hum. Mol. Genet. Qing-liang Wang , Shiming Chen , Noriko Esumi , Prabodh K Swain , Heidi S Haines , Guanghua Peng , B Michele Melia , Iain McIntosh , John R Heckenlively , Samuel G Jacobson , Edwin M Stone , Anand Swaroop , Donald J Zack	2004-05-15	Rax, CRX, NRL, RAX2, CRX
12477932	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team	2002-12-24	-

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