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Nkx2-1 NK2 homeobox 1 [ Mus musculus (house mouse) ]

Gene ID: 21869, updated on 22-Sep-2022

Summary

Official Symbol
Nkx2-1provided by MGI
Official Full Name
NK2 homeobox 1provided by MGI
Primary source
MGI:MGI:108067
See related
Ensembl:ENSMUSG00000001496 AllianceGenome:MGI:108067
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
T/EBP; Titf1; Ttf-1; Nkx2.1
Summary
Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and intronic transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription, DNA-templated; positive regulation of circadian rhythm; and positive regulation of transcription, DNA-templated. Acts upstream of or within several processes, including animal organ development; neurogenesis; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in choreatic disease and thyroid gland papillary carcinoma. Orthologous to human NKX2-1 (NK2 homeobox 1). [provided by Alliance of Genome Resources, Apr 2022]
Annotation information
Note: Ttf1 (GeneID 22130) and Nkx2-1 (GeneID 21869) 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]
Expression
Biased expression in lung adult (RPKM 102.7), whole brain E14.5 (RPKM 11.8) and 1 other tissue See more
Orthologs
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Genomic context

See Nkx2-1 in Genome Data Viewer
Location:
12 C1; 12 24.42 cM
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (56578720..56583693, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (56531935..56536908, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (57632922..57637895, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 18027 Neighboring gene surfactant associated 3, pseudogene Neighboring gene Nkx2-1 Hedgehog-responsive enhancer Neighboring gene predicted gene, 25760 Neighboring gene expressed sequence C87198

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables TBP-class protein binding ISO
Inferred from Sequence Orthology
more info
 
enables core promoter sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables intronic transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables intronic transcription regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription cis-regulatory region binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription coregulator binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within GABAergic neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within Leydig cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within anatomical structure formation involved in morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within animal organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within axon guidance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within brain development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in brain development ISO
Inferred from Sequence Orthology
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within cerebral cortex GABAergic interneuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cerebral cortex cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cerebral cortex neuron differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cerebral cortex neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within club cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within developmental induction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within endoderm development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in feeding behavior ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within forebrain dorsal/ventral pattern formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within forebrain neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within forebrain neuron fate commitment IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within forebrain neuron fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within globus pallidus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in globus pallidus development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within hippocampus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hyperosmotic salinity response ISO
Inferred from Sequence Orthology
more info
 
involved_in hypothalamus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within interneuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within locomotory behavior ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within lung development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lung development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within lung saccule development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within menarche IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of epithelial to mesenchymal transition ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neuron fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within oligodendrocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within pattern specification process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within phospholipid metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within pituitary gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of DNA-templated transcription IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of circadian rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of blood volume by renin-angiotensin ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to lipopolysaccharide ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within rhythmic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within telencephalon cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within telencephalon development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within thyroid gland development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within thyroid gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within thyroid gland development ISO
Inferred from Sequence Orthology
more info
 
involved_in thyroid gland development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within type II pneumocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of transcription regulator complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
homeobox protein Nkx-2.1
Names
thyroid nuclear factor 1
thyroid transcription factor 1
thyroid-specific enhancer-binding protein
tinman

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001403580.1NP_001390509.1  homeobox protein Nkx-2.1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC160393
    UniProtKB/TrEMBL
    A0A6P5QMX1
  2. NM_009385.4NP_033411.3  homeobox protein Nkx-2.1 isoform 1

    See identical proteins and their annotated locations for NP_033411.3

    Status: VALIDATED

    Source sequence(s)
    AC160393
    Consensus CDS
    CCDS25922.1
    UniProtKB/Swiss-Prot
    P50220
    UniProtKB/TrEMBL
    A0A6P5QUT3, Q6PFE0
    Related
    ENSMUSP00000001536.8, ENSMUST00000001536.9
    Conserved Domains (1) summary
    pfam00046
    Location:164217
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    56578720..56583693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006515791.3XP_006515854.1  homeobox protein Nkx-2.1 isoform X2

    UniProtKB/TrEMBL
    A0A6P5R0E0
    Conserved Domains (1) summary
    pfam00046
    Location:194248
    Homeobox; Homeobox domain
  2. XM_011244101.4XP_011242403.1  homeobox protein Nkx-2.1 isoform X1

    Conserved Domains (1) summary
    pfam00046
    Location:215269
    Homeobox; Homeobox domain
  3. XM_036157377.1XP_036013270.1  homeobox protein Nkx-2.1 isoform X1

    UniProtKB/TrEMBL
    A0A6P5QMX1
    Conserved Domains (1) summary
    pfam00046
    Location:215269
    Homeobox; Homeobox domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001146198.1: Suppressed sequence

    Description
    NM_001146198.1: This RefSeq was removed because currently there is insufficient support for the transcript.