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128989 TANGO2

128989

TANGO2

transport and golgi organization 2 homolog

protein-coding

Homo sapiens

基因描述

Type Description
Definition transport and golgi organization 2 homolog

研究结论

Date Results Publications
2020-09-19 16:31:00 TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism. 31276219
2019-07-20 11:06:00 Variants from the 14 patients described are shown above the gene depiction with red bars for deletions and lines for single nucleotide variants (SNV), and pathogenic variants from prior studies are shown below (light blue bars for deletions and lines for SNV) based on TANGO2 transcript NM152906.6 (2623 bp). 30245509
2016-06-28 10:41:00 Exons 3-9 heterozygous deletion in TANGO2 are recurrent pathogenic alleles present in the Latino/Hispanic and European populations, respectively, causing considerable morbidity in the homozygotes in these populations. 26805781

名称对应

Type IDs
Synonymous C22orf25, MECRCN
Gene
UniProtKB-ID: TNG2_HUMAN, A0A0A0MSI5_HUMAN, A8K1E7_HUMAN, B7Z4A5_HUMAN, B7Z9Q5_HUMAN, B7Z4V5_HUMAN
UniprotKB: Q6ICL3, A0A0A0MSI5, A8K1E7, B7Z4A5, B7Z9Q5, B7Z4V5
UniParc: UPI0000072F83, UPI0000072744, UPI000047F8DD, UPI0000EE7A9A, UPI00019154D9, UPI0001914FEF, UPI0001914EB5, UPI0001915039, UPI000191519D, UPI0000050339, UPI00015DA58B
EMBL: AK295210, AL713640, AK297922, CR456355, AK057461, AK092484, BC041339, AK316020, AK298593, AK289862, AC006547, AK316056, AK301366, AC005663, AK297075, CH471176
Ensembl: ENSG00000183597
KO: hsa:128989
Nucleutide sequences
EMBL-CDS: BAB71498.1, BAC03902.1, BAH14427.1, AAH41339.1, EAX03005.1, BAH12013.1, EAX03001.1, EAX03003.1, CAD28454.1, BAH12819.1, BAH13466.1, CAG30241.1, BAF82551.1, BAH12491.1, BAH14391.1, BAH12691.1
Ensembl_TRS: ENST00000432883, ENST00000401886, ENST00000401833, ENST00000456048, ENST00000327374, ENST00000434570, ENST00000398042, ENST00000447208, ENST00000420290
Protein sequencees
Ensembl_PRO: ENSP00000402926, ENSP00000403645, ENSP00000384827, ENSP00000385662, ENSP00000391262, ENSP00000332721, ENSP00000381122, ENSP00000389797, ENSP00000396182
RefSeq: NP_001309076.1, XP_016884066.1, NP_001309104.1, XP_016884067.1, NP_001309078.1, XP_016884071.1, NP_001309100.1, XP_016884073.1, NP_001270058.1, XP_011528169.1, NP_690870.3, XP_024307925.1, NP_001309084.1, XP_016884070.1, NP_001309102.1, XP_016884068.1, NP_001270035.1, XP_016884072.1, NP_001270083.1, NP_001270177.1, NP_001270108.1, XP_016884074.1, NP_001270077.1, NP_001270144.1, NP_001309072.1, NP_001309082.1, NP_001309077.1, NP_001309095.1, NP_001309101.1, XP_016884075.1, NP_001270045.1, XP_016884069.1, NP_001270164.1, XP_011528165.1, NP_001270115.1, NP_001309096.1, NP_001309075.1, NP_001309089.1, XP_016884077.1, NP_001309103.1, NP_001309073.1, NP_001309074.1, NP_001309071.1, XP_011528167.1, NP_001309070.1, XP_016884076.1, NP_001270128.1, NP_001309092.1, NP_001309098.1, NP_001309079.1
Others
UniRef100: UniRef100_B7Z4A5, UniRef100_B7Z4V5, UniRef100_A8K1E7, UniRef100_A0A0A0MSI5, UniRef100_B7Z9Q5, UniRef100_Q6ICL3
UniRef90: UniRef90_B7Z4V5, UniRef90_A0A0A0MSI5, UniRef90_Q6ICL3, UniRef90_A0A5F5PRJ5
UniRef50: UniRef50_A0A2I3SSW5, UniRef50_A0A0A0MSI5, UniRef50_A0A5F5PRJ5, UniRef50_Q6ICL3
UniGene: Hs.474233
CCDS: CCDS63404.1, CCDS13772.1, CCDS63407.1, CCDS63405.1, CCDS63406.1

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