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Nkx2-1
Gene Detail
 Symbol
Name
ID
Nkx2-1
NK2 homeobox 1
MGI:108067
Synonyms T/EBP, thyroid-specific enhancer-binding protein, thyroid transcription factor-1, tinman, Titf1, Ttf-1
Feature Type protein coding gene
Genetic Map
Chromosome 12
24.42 cM, cytoband C1-C3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr12:56531958-56536908 bp, - strand
From VEGA annotation of GRCm38

  4951 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2488  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Nkx2-1

Human
homologs
Human Homolog NKX2-1, NK2 homeobox 1
NCBI Gene ID 7080
neXtProt AC  NX_P43699
Human Synonyms  BCH, BHC, NK-2, NKX2.1, NKX2A, TEBP, T/EBP, TITF1, TTF1, TTF-1
Human Chr (Location)  14q13; chr14:36516397-36520225 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human NKX2-1
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted mutation have profoundly abnormal lungs and ventral forebrain defects, lack thyroids, pituitary gland, and tracheoesophageal septation, and die at birth from respiratory failure. Carriers show incoordination and high TSH.
 
Interactions
Nkx2-1 interacts with 190 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (102 annotations)
Process anatomical structure formation involved in morphogenesis, axon guidance, ...
Component nucleoplasm, nucleus, ...
Function core promoter binding, DNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (343 records)
Data Summary: Results (660)    Tissues (329)    Images (243)
Theiler Stages: 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 139
RNA in situ 484
Northern blot 3
RT-PCR 27
RNase protection 7
cDNA source data(18)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(38) Genomic(3) cDNA(26) Primer pair(8) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000044396 (Evidence)
Ensembl Gene ModelENSMUSG00000001496 (Evidence)
Entrez Gene21869 (Evidence)
UniGene89972
DFCITC1586815
DoTSDT.101357402, DT.101725963
NIA Mouse Gene IndexU033969
Consensus CDS ProjectCCDS25922.1
International Mouse Knockout Project StatusNkx2-1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044396 VEGA Gene Model | MGI Sequence Detail 4951 C57BL/6J ±  kb
transcript OTTMUST00000116868 VEGA | MGI Sequence Detail 2242 Not Applicable 
polypeptide OTTMUSP00000065278 VEGA | MGI Sequence Detail 372 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(8) UniProt(2)
Polymorphisms SNPs within 2kb(22 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
InterPro IPR020479 Homeodomain, metazoa
Protein Ontology PR:000011241 homeobox protein Nkx-2.1
References (Earliest) J:31895 Kim Y, et al., Drosophila NK-homeobox genes. Proc Natl Acad Sci U S A. 1989 Oct;86(20):7716-20
(Latest) J:212084 Herriges MJ, et al., Long noncoding RNAs are spatially correlated with transcription factors and regulate lung development. Genes Dev. 2014 Jun 15;28(12):1363-79
All references(425)
Other
accession IDs
MGD-MRK-12888, MGD-MRK-15292, MGD-MRK-37104, MGI:2144977

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory