Tango2 - transport and golgi organization 2-BMKCloudï½ç¾è¿å®¢äº

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27883 Tango2

基因描述

Type	Description
Definition	transport and golgi organization 2

研究结论

Date	Results	Publications
2016-06-28 10:41:00	Our study suggests TANGO2 deficiency as a differential diagnosis in cases of episodic encephalopathy and/or myopathy in infancy and childhood of unknown cause, especially in individuals with cardiac arrhythmias.	26805782

名称对应

Type	IDs
Synonymous	D16H22S680E, T10
Gene	UniProtKB-ID: Q8BTN3_MOUSE UniprotKB: Q8BTN3 UniParc: UPI00000212C0 EMBL: AK168595, AK089239, AC084822, AK133588 Ensembl: ENSMUSG00000013539
Nucleutide sequences	EMBL-CDS: BAC40808.1, BAE40462.1, BAE21736.1 Ensembl_TRS: ENSMUST00000115628
Protein sequencees	Ensembl_PRO: ENSMUSP00000111291 RefSeq: XP_011244231.1, NP_613049.2, XP_017172520.1, XP_036015872.1, XP_036015871.1, NP_001346037.1, XP_006522293.1, NP_001346040.1, NP_001346038.1, NP_001346039.1
Others	UniRef100: UniRef100_Q8BTN3 UniRef90: UniRef90_P54797 UniRef50: UniRef50_P54797 UniGene: Mm.265990

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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
26805782	Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am J Hum Genet Laura S Kremer , Felix Distelmaier , Bader Alhaddad , Maja Hempel , Arcangela Iuso , Clemens KÃ¼pper , Chris MÃ¼hlhausen , Reka Kovacs-Nagy , Robin Satanovskij , Elisabeth Graf , Riccardo Berutti , Gertrud Eckstein , Richard Durbin , Sascha Sauer , Georg F Hoffmann , Tim M Strom , RenÃ© Santer , Thomas Meitinger , Thomas Klopstock , Holger Prokisch , Tobias B Haack	2016-02-04	-
25452572	Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical Projection Neuron Generation. Cereb. Cortex Elizabeth M Paronett , Daniel W Meechan , Beverly A Karpinski , Anthony-Samuel LaMantia , Thomas M Maynard	2015-10-01	-
24357327	Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome. Dis Model Mech Beverly A Karpinski , Thomas M Maynard , Matthew S Fralish , Samer Nuwayhid , Irene E Zohn , Sally A Moody , Anthony-S LaMantia	2014-02-01	-
23077214	22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. Hum. Mol. Genet. Thomas M Maynard , Deepak Gopalakrishna , Daniel W Meechan , Elizabeth M Paronett , Jason M Newbern , Anthony-Samuel LaMantia	2013-01-15	-
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	-
18775783	Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes. Mol. Cell. Neurosci. T M Maynard , D W Meechan , M L Dudevoir , D Gopalakrishna , A Z Peters , C C Heindel , T J Sugimoto , Y Wu , J A Lieberman , A-S Lamantia	2008-11-01	Slc25a1, Gnb1l, Mrpl40, Prodh, Ufd1l, Uqcrc1, Txnrd2, Zdhhc8, Tango2, Rtn4r, TANGO2, MRPL40
18799693	Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Genome Res. Gwenn M Hansen , Diane C Markesich , Michael B Burnett , Qichao Zhu , Karen M Dionne , Lizabeth J Richter , Richard H Finnell , Arthur T Sands , Brian P Zambrowicz , Alejandro Abuin	2008-10-01	Gm11335, Gm17762, A930017K11Rik, BC028777, Gm13999, Gm11696, Gm12359, Gm10589, D030047H15Rik, Gm10856, Gm10685, Gm10062, Gm10433, Gm10648, Gm10840, Gm15441, Gm10684, Gm9900, Gm10822, Gm10687, Gm11744, Gm10747, Arih2os, B230344G16Rik, Fmr1os, Tmem51os1, Gm14488, Gm13033, Gm10789, Gm10615, Gm1976, Gm9967, Gm9917, Gm1974, Gm11496, Gm13580, Gm2085, Gm2183, Gm2245, Tbx3os1, Gm12980, Gm2329, Lncenc1, Gm2381, Snhg12, Gm2479, Gm12942, Gm2529, Gm2533, Rpl30-ps7, Rsf1os2, Gm2695, 2810416G20Rik, Rpl30-ps6, Gm2773, Gm2788, Dynlt1f, Gm9793, Gm2885, Gm2920, Gm15506, Gm11627, Gm10518, Gm13496, Gm3134, Gm12827, Gm3143, Gm10144, Ahnak2, Gm3196, Gm13242, Gm3325, Gm13247, Gm10863, Gm13157, 4930522L14Rik, Gm3552, Gm15226, Gm3604, Gm3643, BC005561, Gm3716, 2810410L24Rik, Gm10282, Gm3839, Nhsl2, 4732419C18Rik, Gm3906, Gm3973, Gm4013, Apol7d, Gm12057, Gm10489, Rex2, 1110002L01Rik, Gm4189, Gm4204, 4632428C04Rik, 9130023H24Rik
17097888	Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome. Mol. Cell. Neurosci. D W Meechan , T M Maynard , Y Wu , D Gopalakrishna , J A Lieberman , A-S LaMantia	2006-12-01	-
16602821	BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. PLoS Biol Susan Magdaleno , Patricia Jensen , Craig L Brumwell , Anna Seal , Karen Lehman , Andrew Asbury , Tony Cheung , Tommie Cornelius , Diana M Batten , Christopher Eden , Shannon M Norland , Dennis S Rice , Nilesh Dosooye , Sundeep Shakya , Perdeep Mehta , Tom Curran	2006-04-01	-
16141073	Antisense transcription in the mammalian transcriptome. Science S Katayama , Y Tomaru , T Kasukawa , K Waki , M Nakanishi , M Nakamura , H Nishida , C C Yap , M Suzuki , J Kawai , H Suzuki , P Carninci , Y Hayashizaki , C Wells , M Frith , T Ravasi , K C Pang , J Hallinan , J Mattick , D A Hume , L Lipovich , S Batalov , P G EngstrÃ¶m , Y Mizuno , M A Faghihi , A Sandelin , A M Chalk , S Mottagui-Tabar , Z Liang , B Lenhard , C Wahlestedt , RIKEN Genome Exploration Research Group , Genome Science Group (Genome Network Project Core Group) , FANTOM Consortium	2005-09-02	Gm14018, Gm14964, F630206G17Rik, Oog3, Notumos, Ldlrap1, Mdn1, Pydc3, 9330171B17Rik, Mfap1b, Tmsb15b2, Gm12802, E430020m11rik, Gm11335, Gm15772, Gm17762, A930017K11Rik, LOC100036513, Gata5os, Umad1, Gm16982, Gm9887, Gm9872, LOC100036530, Gm9934, Gm9913, Gm11149, BC028777, Gm13999, LOC100036540, Gm9744, Gm9983, D630002J18Rik, Gm16525, Gm11696, Dnajc3, 9430060I03Rik, Gm12359, 4921516A02Rik, Fam129c, Gm10589, Rsph3b, Rnaset2a, 5430403G19Rik, D030047H15Rik, Gm13274, B930046K06Rik, Gm10862, Gm10792, Gm10802, Gm10532, G730003C15Rik, Runx2os1, Gm15612, Gm10856, Gm10857, Gm10685, Gm10803, Gm10723, F630028O10Rik, Gm10836, Gm10405, Gm10513, Gm10609, F630201L12Rik, 4932427H20Rik, Zfp389, Gm10763, Gm10062, Gm10714, Gm10531, Gm10876, Gm10750, Gm10433, Gm10837, Gm10647, Gm10648, Gm10650, Gm10610, F830115B05Rik, Gm10473, Gm10614, Gm10286, G730046D07Rik, Gm10287, Gm10785, Gm10183, Gm10512, 1700061E17Rik, Gm44113, Gm10579, Gm10741, Gm10827, Gm10522, Gm10536, Gm15998, Faddos, D130050E23Rik, Gm10735

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