NKX2-5 Chromosome 5
NK2 homeobox 5
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What This Gene Does
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000183072
Associated Conditions (31)
Cardiovascular phenotype
Atrial septal defect 7
Tetralogy of Fallot
Congenital heart disease
6 conditions
Hypothyroidism
congenital
nongoitrous
5
Aortic arch interruption
Hypoplastic left heart syndrome 2
Persistent truncus arteriosus
NKX2-5-related disorder
Familial isolated congenital asplenia
small Atrial septal defect
Single ventricle
Long QT syndrome
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Reclassified - variant of unknown significance
+11 more conditions
Key Variants
RS1012750146
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
Health Risk
RS104893904
Conflicting classifications of pathogenicity
Tetralogy of Fallot, Congenital heart disease, Cardiovascular phenotype
Health Risk
RS1188239387
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
Health Risk
RS1279595214
Conflicting classifications of pathogenicity
Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
Health Risk
RS1352813413
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
Health Risk
RS1356254262
Conflicting classifications of pathogenicity
Atrial septal defect 7, Atrial septal defect 7
Health Risk
RS1425022333
Conflicting classifications of pathogenicity
Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
Health Risk
RS1489743522
Conflicting classifications of pathogenicity
Atrial septal defect 7, Cardiovascular phenotype, 6 conditions
Health Risk
RS151314714
Conflicting classifications of pathogenicity
Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
Health Risk
RS201249977
Conflicting classifications of pathogenicity
Atrial septal defect 7, Atrial septal defect 7
Health Risk
RS2480071578
Conflicting classifications of pathogenicity
Atrial septal defect 7, Atrial septal defect 7
Health Risk
RS28936670
Conflicting classifications of pathogenicity
Tetralogy of Fallot, Hypothyroidism, congenital
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387906773 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS387906775 | Health Risk | Pathogenic | Ventricular septal defect 3, Ventricular septal defect 3 |
| RS397516909 | Health Risk | Pathogenic | Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7 |
| RS587782928 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS587782929 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS587782930 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS587784066 | Health Risk | Pathogenic | Malformation of the heart and great vessels, Malformation of the heart and great vessels |
| RS606231358 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS606231359 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS606231360 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS72554028 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS756377692 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS758539727 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS760723447 | Health Risk | Pathogenic | Atrial septal defect 7, Atrial septal defect 7 |
| RS786205826 | Health Risk | Pathogenic | — |
| RS797044675 | Health Risk | Pathogenic | — |
| RS797045790 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, Abnormal cardiovascular system morphology |
| RS797045791 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, Atrial septal defect 7, Abnormal cardiovascular system morphology |
| RS797045792 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, Atrial septal defect 7, Abnormal cardiovascular system morphology |
| RS864321645 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS864321648 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS864321650 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS876661381 | Health Risk | Pathogenic | — |
| RS1554093433 | Health Risk | Pathogenic/Likely pathogenic | Noncompaction cardiomyopathy, Primary dilated cardiomyopathy, Atrial septal defect |
| RS2113906336 | Health Risk | Pathogenic/Likely pathogenic | Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7 |
| RS2480072423 | Health Risk | Pathogenic/Likely pathogenic | Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7 |
| RS587784067 | Health Risk | Pathogenic/Likely pathogenic | Malformation of the heart and great vessels, Atrial septal defect 7, NKX2-5-related disorder |
| RS773922431 | Health Risk | Pathogenic/Likely pathogenic | Atrial septal defect 7, Atrial septal defect 7 |