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28952 CCDC22

28952

CCDC22

coiled-coil domain containing 22

protein-coding

Homo sapiens

基因描述

Type Description
Definition coiled-coil domain containing 22

研究结论

Date Results Publications
2018-03-10 10:02:00 SNPs within the CCDC22 gene are associated with increased susceptibility to endometriosis in Brazilian women. 28470452
2017-12-09 13:17:00 Our results suggest that rs2294020 is associated with the risk of several autoimmune diseases in European populations, specifically with diseases that present themselves, among else, in the skin. 27888057
2016-07-30 10:28:00 CCDC22 mutation is associated with hypercholesterolemia. 26965651
2016-01-16 11:37:00 Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome 24916641
2013-07-06 10:02:00 CCDC22 participates in NF-kappaB activation and its deficiency leads to decreased IkappaB turnover 23563313

名称对应

Type IDs
Synonymous CXorf37, JM1, RTSC2
Gene
UniProtKB-ID: CCD22_HUMAN, A0A024QZ03_HUMAN
UniprotKB: O60826, A0A024QZ03
UniParc: UPI000006FFC7
EMBL: AK291976, BC011675, BC000972, CH471224, AJ005890
Ensembl: ENSG00000101997
KO: hsa:28952
Nucleutide sequences
EMBL-CDS: AAH00972.1, CAA06747.1, AAH11675.1, BAF84665.1, EAW50676.1, EAW50674.1
Gene_ORFName: JM1, hCG_19832
Ensembl_TRS: ENST00000376227
Protein sequencees
Ensembl_PRO: ENSP00000365401
RefSeq: NP_054727.1, XP_005272656.1
Others
UniRef100: UniRef100_O60826
UniRef90: UniRef90_O60826
UniRef50: UniRef50_O60826
UniGene: Hs.26333
CCDS: CCDS14322.1

全选

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研究热度

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