Property Summary

NCBI Gene PubMed Count 11
PubMed Score 1062.47
PubTator Score 8.09

Knowledge Summary

Patent

No data available

Synonym

Accession A6NCS4
Symbols CSX2
CTHM
NKX2F
NKX4-2

Gene

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG
Opossum EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

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
//

Text Mined References (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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