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80271 ITPKC

80271

ITPKC

inositol-trisphosphate 3-kinase C

protein-coding

Homo sapiens

基因描述

Type Description
Definition inositol-trisphosphate 3-kinase C

研究结论

Date Results Publications
2019-07-20 12:57:00 Our findings suggest that is a susceptibility gene for bone mineral density (BMD), and rs2607420 may play an important role in the regulation of this gene 30355649
2018-03-10 10:52:00 This study identified several important polymorphisms in the and SLC11A1 genes in Koreans. 29214786
2017-12-23 12:29:00 Genetic variants of may have a potential association with HSCR (Hirschsprung disease) susceptibility and/or developmental diseases related to enteric nervous system development. 28664405
2017-08-19 12:01:00 this study shows that the KD-associated genetic polymorphism in inositol-triphosphate 3-kinase C (rs28493229) has important functional consequences, governing protein levels and thereby intracellular calcium, which in turn regulates NLRP3 expression and production of IL-1beta and IL-18. 27694492
2015-11-14 10:55:00 polymorphisms are associated with Kawasaki disease. 24903211

名称对应

Type IDs
Synonymous IP3-3KC, IP3KC
Gene
UniProtKB-ID: IP3KC_HUMAN, A0A024R0N8_HUMAN
UniprotKB: Q96DU7, A0A024R0N8
UniParc: UPI000006E1AC
EMBL: AJ290975, BC060788, Y11999, D38169, CH471126
Ensembl: ENSG00000086544
KO: hsa:80271
Nucleutide sequences
EMBL-CDS: AAH60788.1, BAA22524.1, CAC40815.1, CAA72728.1, EAW56993.1, EAW56992.1
Gene_ORFName: hCG_20795
Ensembl_TRS: ENST00000263370
Protein sequencees
Ensembl_PRO: ENSP00000263370
RefSeq: XP_016882813.1, NP_079470.1
Others
UniRef100: UniRef100_Q96DU7
UniRef90: UniRef90_Q96DU7
UniRef50: UniRef50_Q96DU7
UniGene: Hs.515415
CCDS: CCDS12563.1

全选

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研究热度

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