NKX2-6 Chromosome 8
NK2 homeobox 6
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What This Gene Does
This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
8p21.2
Ensembl
ENSG00000180053
Associated Conditions (4)
Conotruncal heart malformations
NKX2-6-related disorder
Persistent truncus arteriosus
Cerebral palsy
Key Variants
RS568127693
Conflicting classifications of pathogenicity
Conotruncal heart malformations, Conotruncal heart malformations
Health Risk
RS768775204
Conflicting classifications of pathogenicity
Conotruncal heart malformations, NKX2-6-related disorder, Conotruncal heart malformations
Health Risk
RS2486482243
Likely pathogenic
Conotruncal heart malformations, Conotruncal heart malformations
Health Risk
RS267606914
Likely pathogenic
Persistent truncus arteriosus, Conotruncal heart malformations, Persistent truncus arteriosus
Health Risk
RS587777422
Likely pathogenic
Conotruncal heart malformations, Conotruncal heart malformations
Health Risk
RS757292066
Likely pathogenic; risk factor
Conotruncal heart malformations, Cerebral palsy, Conotruncal heart malformations
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS568127693 | Health Risk | Conflicting classifications of pathogenicity | Conotruncal heart malformations, Conotruncal heart malformations |
| RS768775204 | Health Risk | Conflicting classifications of pathogenicity | Conotruncal heart malformations, NKX2-6-related disorder, Conotruncal heart malformations |
| RS2486482243 | Health Risk | Likely pathogenic | Conotruncal heart malformations, Conotruncal heart malformations |
| RS267606914 | Health Risk | Likely pathogenic | Persistent truncus arteriosus, Conotruncal heart malformations, Persistent truncus arteriosus |
| RS587777422 | Health Risk | Likely pathogenic | Conotruncal heart malformations, Conotruncal heart malformations |
| RS757292066 | Health Risk | Likely pathogenic; risk factor | Conotruncal heart malformations, Cerebral palsy, Conotruncal heart malformations |