NKX2-6 (NK2 homeobox 6)

2016-10-01  

Identity

HGNC
LOCATION
8p21.2
LOCUSID
ALIAS
CSX2,CTHM,NKX2F,NKX4-2

Other Information

Locus ID:

NCBI: 137814
MIM: 611770
HGNC: 32940
Ensembl: ENSG00000180053

Variants:

dbSNP: 137814
ClinVar: 137814
TCGA: ENSG00000180053
COSMIC: NKX2-6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180053ENST00000325017A6NCS4

Expression (GTEx)

0
1
2

References

Pubmed IDYearTitleCitations
156499472005Common arterial trunk associated with a homeodomain mutation of NKX2.6.16
244212812014Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.5
253809652015A novel NKX2.6 mutation associated with congenital ventricular septal defect.5
251950192014Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.3
253195682014NKX2-6 mutation predisposes to familial atrial fibrillation.3
189399372008NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.1

Citation

Dessen P

NKX2-6 (NK2 homeobox 6)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56158/nkx2-6