Property Summary

NCBI Gene PubMed Count 11
Grant Count 63
R01 Count 51
Funding $7,812,661.32
PubMed Score 1062.47
PubTator Score 8.09

Knowledge Summary

Patent

No data available

Synonym

Accession A6NCS4
Symbols CSX2
CTHM
NKX2F
NKX4-2

Gene

Gene RIF (6)

PMID Text
25380965 This study firstly links NKX2.6 loss-of-function mutation with increased susceptibility to isolated VSD.
25319568 Data associated genetically defective NK2 homeobox 6 (NKX2-6) with enhanced susceptibility to atrial fibrillation (AF).
25195019 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.
24421281 NKX2-6 plays a role in human cardiogenesis.
18939937 NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.
15649947 weakly activates transcription of a Cx40 promoter, may have role in heart development

AA Sequence

MLLSPVTSTPFSVKDILRLERERSCPAASPHPRVRKSPENFQYLRMDAEPRGSEVHNAGGGGGDRKLDGS      1 - 70
EPPGGPCEAVLEMDAERMGEPQPGLNAASPLGGGTRVPERGVGNSGDSVRGGRSEQPKARQRRKPRVLFS     71 - 140
QAQVLALERRFKQQRYLSAPEREHLASALQLTSTQVKIWFQNRRYKCKRQRQDKSLELAGHPLTPRRVAV    141 - 210
PVLVRDGKPCLGPGPGAPAFPSPYSAAVSPYSCYGGYSGAPYGAGYGTCYAGAPSGPAPHTPLASAGFGH    211 - 280
GGQNATPQGHLAATLQGVRAW                                                     281 - 301
//

Publication (12)

PMID Year Title
25380965 2015 A novel NKX2.6 mutation associated with congenital ventricular septal defect.
25319568 2014 NKX2-6 mutation predisposes to familial atrial fibrillation.
25195019 2014 Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.
24421281 2014 Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.
22310353 2013 Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.
18939937 2008 NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.
18316326 2008 Exploration of human ORFeome: high-throughput preparation of ORF clones and efficient characterization of their protein products.
16421571 2006 DNA sequence and analysis of human chromosome 8.
15649947 2005 Common arterial trunk associated with a homeodomain mutation of NKX2.6.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
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