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9918 NCAPD2

9918

NCAPD2

non-SMC condensin I complex subunit D2

protein-coding

Homo sapiens

基因描述

Type Description
Definition non-SMC condensin I complex subunit D2

研究结论

Date Results Publications
2020-07-25 12:25:00 this is the second report of primary microcephaly due to a pathogenic variant at the NCAPD2 gene. We found two affected siblings who carried a splice-site pathogenic variant (c.3477+2T>C). Our finding provided accurate diagnosis and genetic counseling to the family. 31056748
2020-06-06 13:33:00 NCAPD2 and NCAPD3 expression levels have been confirmed to be significantly up-regulated in the intestinal mucosa of patients with active ulcerative colitis. In vitro, the data suggested that silencing NACPD2 and NACPD3 could depress the expression of IL-1beta, IL-6 and TNF-alpha. Further, knockdown of NACPD2 and NACPD3 could remarkably suppress IKK nucleation and NF-kappaB volume. 31885422
2020-04-25 11:51:00 High NCAPD2 expression was associated with lymph node metastasis in Triple-Negative Breast Cancer. 31610177
2016-12-17 10:07:00 The authors propose that histone H3 threonine 118 phosphorylation via Aurora-A alters the chromatin structure during specific phases of mitosis to promote timely condensin I and cohesin disassociation, which is essential for effective chromosome segregation. 26878753
2015-05-16 12:26:00 Study has shown that both rs7311174 and rs2072374 in the NCAPD2 gene are associated with Parkinson's disease in a Han Chinese population. 25166511

名称对应

Type IDs
Synonymous CAP-D2, CNAP1, MCPH21, hCAP-D2
Gene
UniProtKB-ID: CND1_HUMAN, B3KY03_HUMAN, B3KMS0_HUMAN
UniprotKB: Q15021, B3KY03, B3KMS0
UniParc: UPI000015F48D, UPI00004A2956, UPI000013C8CA
EMBL: CH471116, AC006064, D63880, AK128354, BC028182, AK022511
Ensembl: ENSG00000010292
KO: hsa:9918
Nucleutide sequences
EMBL-CDS: EAW88788.1, BAA09930.2, EAW88789.1, AAH28182.1, BAG54665.1, BAG51082.1
Ensembl_TRS: ENST00000315579
Protein sequencees
Ensembl_PRO: ENSP00000325017
RefSeq: NP_055680.3
Others
UniRef100: UniRef100_Q15021, UniRef100_B3KMS0, UniRef100_B3KY03
UniRef90: UniRef90_Q15021
UniRef50: UniRef50_Q15021
UniGene: Hs.5719
CCDS: CCDS8548.1

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