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10758 TRAF3IP2

10758

TRAF3IP2

TRAF3 interacting protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition TRAF3 interacting protein 2

研究结论

Date Results Publications
2020-11-21 13:15:00 Diabetes induces IL-17A-Act1-FADD-dependent retinal endothelial cell death and capillary degeneration. 31239234
2020-07-11 10:07:00 We describe an adolescent boy with recurrent oral candidiasis and bronchiectasis due to a novel mutation in TRAF3IP2 gene, not reported to date. This is also the only second report of CMC due to ACT1 deficiency. 31292894
2020-06-20 12:38:00 increased MMP-13 and decreased RECK contribute to IL-17A-induced TRAF3IP2-dependent smooth muscle cell migration and proliferation. 31074012
2020-05-09 11:12:00 Study results implicate neutrophil extracellular traps (NETs) and the T allele of rs33980500 (T/C), a psoriasis risk-associated variant in the TRAF3IP2 gene encoding the D10N variant of Act1, in human Th17 induction from peripheral blood mononuclear cells and verified that the effect of Act1 D10N was greater in the presence of NETs. 30528823
2019-08-17 11:04:00 We also identify a novel LRI site located within the TRAF3IP2-AS1 promoter, 200 kb distant from the TRAF3IP2 promoter, showing genetic association with psoriasis both in our discovery cohort, as well as in the large WTCCC replication cohort. 30076642

名称对应

Type IDs
Synonymous ACT1, C6orf2, C6orf4, C6orf5, C6orf6, CANDF8, CIKS, PSORS13
Gene
UniProtKB-ID: CIKS_HUMAN
UniprotKB: O43734
UniParc: UPI00001A3A90, UPI00001A3A8F, UPI000013DDEF, UPI000013C575, UPI000016A2D3
EMBL: CH471051, AL008730, AF136405, Z97989, AF274303, AF136406, AF136407, AL050289, AF272151, AK314415, AK025351, AK026602, BI856094, BC002823
Ensembl: ENSG00000056972
KO: hsa:10758
Nucleutide sequences
EMBL-CDS: AAH02823.1, AAF67447.1, AAG15407.1, BAB15117.1, AAG15367.1, AAF67446.1, BAG37036.1, AAF67445.1, EAW48285.1, BAB15507.1, EAW48287.1, CAB43390.1
Ensembl_TRS: ENST00000368730, ENST00000392556, ENST00000368734, ENST00000340026, ENST00000359831, ENST00000368761, ENST00000368735
Protein sequencees
Ensembl_PRO: ENSP00000345984, ENSP00000498345, ENSP00000352889, ENSP00000376339, ENSP00000498323, ENSP00000357750, ENSP00000357724
RefSeq: NP_001157755.1, NP_001157753.1, NP_679211.2, NP_671733.2
Others
UniRef100: UniRef100_O43734
UniRef90: UniRef90_O43734
UniRef50: UniRef50_O43734
UniGene: Hs.561514, Hs.740602
CCDS: CCDS5093.1, CCDS55050.1, CCDS55049.1, CCDS5092.1

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