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137814 NKX2-6

137814

NKX2-6

NK2 homeobox 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition NK2 homeobox 6

研究结论

Date Results Publications
2021-02-02 13:23:00 NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. 32198970
2015-12-05 10:22:00 This study firstly links NKX2.6 loss-of-function mutation with increased susceptibility to isolated VSD. 25380965
2015-07-25 11:13:00 Data associated genetically defective NK2 homeobox 6 (NKX2-6) with enhanced susceptibility to atrial fibrillation (AF). 25319568
2015-06-20 10:51:00 Heterozygous mutations in Nkx2.6, p.V176M and p.K177X, were identified in 2 unrelated patients, one with tetralogy of Fallot and one with double outlet of right ventricle and ventricular septal defect. Increased vulnerability to TOF or DORV is discussed. 25195019
2014-11-22 13:44:00 NKX2-6 plays a role in human cardiogenesis. 24421281

名称对应

Type IDs
Synonymous CSX2, CTHM, NKX2F, NKX4-2
Gene
UniProtKB-ID: NKX26_HUMAN
UniprotKB: A6NCS4
UniParc: UPI000016092C
EMBL: AC012574, CN272646
Ensembl: ENSG00000180053
KO: hsa:137814
Nucleutide sequences
Ensembl_TRS: ENST00000325017
Protein sequencees
Ensembl_PRO: ENSP00000320089
RefSeq: NP_001129743.2
Others
UniRef100: UniRef100_A6NCS4
UniRef90: UniRef90_A6NCS4
UniRef50: UniRef50_A6NCS4
UniGene: Hs.532654

全选

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研究热度

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