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153562 MARVELD2

153562

MARVELD2

MARVEL domain containing 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition MARVEL domain containing 2

研究结论

Date Results Publications
2020-01-04 11:31:00 Recessive insertion variant in the MARVELD2 segregates with non-syndromic hearing loss in an Iranian family. 29752989
2019-03-02 10:56:00 ELISA revealed that Crohn's Disease twins demonstrated significantly lower levels of tight junction protein tricellulin compared with external controls. 29659773
2018-12-22 12:01:00 this study shows that tricellulin is regulated via interleukin-13-receptor alpha2, affects macromolecule uptake, and is decreased in ulcerative colitis 28612843
2018-06-09 11:16:00 Our results provide new insights into the function of tricellulin, and its nuclear localization may become a new prognostic factor for pancreatic cancers. 27641742
2018-05-26 11:22:00 GSK3beta may inhibit VRK2 catalytic activity by disrupting its flexibility. The inhibition of VRK2 catalytic activity by GSK3beta may also inhibit VRK2-induced degradation of TRiC, which could suppress polyQ-expanded Htt aggregation. 27377031

名称对应

Type IDs
Synonymous DFNB49, MARVD2, MRVLDC2, Tric
Gene
UniProtKB-ID: MALD2_HUMAN
UniprotKB: Q8N4S9
UniParc: UPI0001EC9651, UPI0001AE73D6, UPI00001416EB
EMBL: DQ682656, AK055094, AC145146, AB219936, AK292962, DQ682657, BC033689, AB219937, CH471137
Ensembl: ENSG00000152939, ENSG00000274671
KO: hsa:153562
Nucleutide sequences
EMBL-CDS: BAE54514.1, ABG89104.1, EAW51277.1, BAE54513.1, AAH33689.1, BAF85651.1, ABG89105.1, BAB70853.1
Ensembl_TRS: ENST00000325631, ENST00000454295, ENST00000614617, ENST00000647531, ENST00000645446, ENST00000622835
Protein sequencees
Ensembl_PRO: ENSP00000396244, ENSP00000480068, ENSP00000494616, ENSP00000493858, ENSP00000480044, ENSP00000323264
RefSeq: XP_005248503.1, XP_005248504.1, XP_005248502.1, NP_001231663.1, NP_001033692.2
Others
UniRef100: UniRef100_Q8N4S9
UniRef90: UniRef90_Q8N4S9
UniRef50: UniRef50_Q8N4S9
UniGene: Hs.657687
CCDS: CCDS34175.1, CCDS58956.1

全选

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