NKX2-1 NK2 homeobox 1
Gene ID: 7080, updated on 5-Mar-2024Gene type: protein coding
Also known as: BCH; BHC; NK-2; TEBP; TTF1; NKX2A; NMTC1; T/EBP; TITF1; TTF-1; NKX2.1
- See all available tests in GTR for this gene
- Go to complete Gene record for NKX2-1
- Go to Variation Viewer for NKX2-1 variants
Summary
This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Benign hereditary chorea | See labs |
| Brain-lung-thyroid syndrome | See labs |
| Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. GeneReviews: Not available | |
| Genome wide association study of age at menarche in the Japanese population. GeneReviews: Not available | |
| Identification of ten loci associated with height highlights new biological pathways in human growth. GeneReviews: Not available | |
| Thyroid cancer, nonmedullary, 1 | See labs |
Genomic context
- Location:
- 14q13.3
- Sequence:
- Chromosome: 14; NC_000014.9 (36516397..36520232, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NKX2-1 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
- NKX2-1 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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