NKX2-6 NK2 homeobox 6
Gene ID: 137814, updated on 18-Sep-2024Gene type: protein coding
Also known as: CSX2; CTHM; NKX2F; NKX4-2
- See all available tests in GTR for this gene
- Go to complete Gene record for NKX2-6
- Go to Variation Viewer for NKX2-6 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis. GeneReviews: Not available | |
| Conotruncal heart malformations | not available |
Genomic context
- Location:
- 8p21.2
- Sequence:
- Chromosome: 8; NC_000008.11 (23701740..23706756, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NKX2-6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NKX2-6 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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