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NKX2-1 |
Gene Facts External Data Attribution
- HGNC Symbol
- NKX2-1 (HGNC:11825) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NK2 homeobox 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- NKX2A, BCH, TITF1
- Alias symbols
- TTF-1, TTF1
- %HI
- 1.5(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.96(Read more about gnomAD pLI score)
- LOEUF
- 0.52(Read more about gnomAD LOEUF score)
- Cytoband
- 14q13.3
- Genomic Coordinates
-
GRCh37/hg19: chr14:36985602-36989437 NCBI Ensembl UCSC GRCh38/hg38: chr14:36516397-36520232 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001079668.3 ENST00000354822.7 (Read more about MANE Select)
- Function
- Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene exp... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12654
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)
