About   Help   FAQ
Nkx2-1 Gene Detail
Summary
  • Symbol
    Nkx2-1
  • Name
    NK2 homeobox 1
  • Synonyms
    T/EBP, thyroid-specific enhancer-binding protein, thyroid transcription factor-1, tinman, Titf1, Ttf-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:108067
    NCBI Gene: 21869
  • Gene Overview
    MyGene.info: NKX2-1
Location & Maps
more
  • Sequence Map
    Chr12:56531958-56536908 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4951 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 24.42 cM, cytoband C1-C3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NKX2-1, NK2 homeobox 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NKX2-1, NK2 homeobox 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1, TEBP, T/EBP, TITF1, TTF1, TTF-1
  • Links
    NCBI Gene ID: 7080
    neXtProt AC: NX_P43699

  • Chr Location
    14q13; chr14:36516397-36520225 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human NKX2-1 associations

Human Disease Mouse Models
       Chorea, Benign Hereditary; BHC   OMIM: 118700
Choreoathetosis and Congenital Hypothyroidism with or without Pulmonary Dysfunction; CAHTP   OMIM: 610978
Thyroid Cancer, Nonmedullary, 1; NMTC1   OMIM: 188550
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    67 phenotypes from 6 alleles in 12 genetic backgrounds
    9 phenotypes from multigenic genotypes
    64 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Targeted
    9
  • Genomic Mutations
    1 involving Nkx2-1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    21 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 42
    Genomic 3
    cDNA 28
    Primer pair 10
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-12888, MGD-MRK-15292, MGD-MRK-37104, MGI:2144977
References
more
  • Summaries
    All 473
    Developmental Gene Expression 387
    Gene Ontology 53
    Phenotypes 64
  • 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:233746 Wang X, et al., Expression of histone deacetylase 3 instructs alveolar type I cell differentiation by regulating a Wnt signaling niche in the lung. Dev Biol. 2016 Jun 15;414(2):161-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory