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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

HCOP human homology predictions: NKX2-1
Gene Tree: Nkx2-1

Human
homologs
NKX2-1, NK2 homeobox 1
Orthology source: HGNC, HomoloGene

IDs:
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.p2

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 , CvDC )
 
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: (107 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: (367 records)
Data Summary: Results (682)    Tissues (342)    Images (257)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 140
RNA in situ 492
Northern blot 3
RT-PCR 40
RNase protection 7
cDNA source data(19)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA NKX2-1 ; Xenbase nkx2-1 ; ZFIN nkx2.1    NEW 
Molecular
reagents
All nucleic(40) Genomic(3) cDNA(27) Primer pair(9) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000044396 (Evidence)
Ensembl Gene Model ENSMUSG00000001496 (Evidence)
Entrez Gene 21869 (Evidence)
UniGene 89972
DFCI TC1586815
DoTS DT.101357402, DT.101725963
NIA Mouse Gene Index U033969
Consensus CDS Project CCDS25922.1
International Mouse Phenotyping Consortium Status Nkx2-1
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:220860 Magnani D, et al., The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon. Hum Mol Genet. 2015 May 1;24(9):2578-93
All references(451)
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
08/18/2015
MGI 6.0
The Jackson Laboratory