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Gene: NKX2-1 (NK2 homeobox 1) Homo sapiens
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Symbol: NKX2-1
Name: NK2 homeobox 1
Description: Exhibits DNA-binding transcription factor activity; enzyme binding activity; and transcription regulatory region DNA binding activity. Involved in several processes, including animal organ development; negative regulation of transforming growth factor beta receptor signaling pathway; and regulation of transcription by RNA polymerase II. Localizes to the nucleus. Implicated in choreatic disease and thyroid gland papillary carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCH; BHC; homeobox protein NK-2 homolog A; homeobox protein Nkx-2.1; NK-2; NK-2 homolog A; NKX2.1; NKX2A; NMTC1; T/EBP; TEBP; thyroid nuclear factor 1; thyroid transcription factor 1; TITF1; TTF-1; TTF1
Orthologs:
Mus musculus (house mouse) : Nkx2-1 (NK2 homeobox 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nkx2-1 (NK2 homeobox 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nkx2-1 (NK2 homeobox 1)
Pan paniscus (bonobo/pygmy chimpanzee) : NKX2-1 (NK2 homeobox 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nkx2-1 (NK2 homeobox 1)
Sus scrofa (pig) : NKX2-1 (NK2 homeobox 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: TTF1 (GeneID 7270) and NKX2-1 (GeneID 7080) loci share the TTF1 symbol/alias in common. TTF1 is a widely used alternative name for thyroid transcription factor 1 (NKX2-1) conflicting with the official symbol for transcription termination factor, RNA polymerase I (TTF1). [13 Feb 2013]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381436,516,397 - 36,520,232 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371436,985,602 - 36,990,894 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361436,055,353 - 36,059,167 (-)NCBINCBI36hg18NCBI36
Build 341436,055,352 - 36,058,654NCBI
Celera1416,849,149 - 16,852,977 (-)NCBI
Cytogenetic Map14q13.3NCBI
HuRef1417,100,276 - 17,104,039 (-)NCBIHuRef
CHM1_11436,984,732 - 36,988,564 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on NKX2-1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732483
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.