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
321989702020NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.0
321989702020NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.0
253809652015A novel NKX2.6 mutation associated with congenital ventricular septal defect.5
253809652015A novel NKX2.6 mutation associated with congenital ventricular septal defect.5
244212812014Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.10
251950192014Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.5
253195682014NKX2-6 mutation predisposes to familial atrial fibrillation.9
244212812014Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.10
251950192014Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.5
253195682014NKX2-6 mutation predisposes to familial atrial fibrillation.9
189399372008NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.1
189399372008NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.1
156499472005Common arterial trunk associated with a homeodomain mutation of NKX2.6.25
156499472005Common arterial trunk associated with a homeodomain mutation of NKX2.6.25

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-(nk2-homeobox-6)