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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
  • Alliance
    gene page
  • Transcription Start Sites
    22 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:56578741-56583570 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 24.42 cM, cytoband C1-C3
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    128 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108067
 protein coding gene Chr12:56578741-56583693 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019755
 protein coding gene Chr12:55650729-55655561 (-)
A/J MGP_AJ_G0019714
 protein coding gene Chr12:53632543-53637568 (-)
AKR/J MGP_AKRJ_G0019689
 protein coding gene Chr12:55316559-55321542 (-)
BALB/cJ MGP_BALBcJ_G0019694
 protein coding gene Chr12:53976000-53984186 (-)
C3H/HeJ MGP_C3HHeJ_G0019499
 protein coding gene Chr12:55392827-55398605 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020146
 protein coding gene Chr12:57301494-57307631 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017766
 protein coding gene Chr12:52098460-52103392 (-)
CAST/EiJ MGP_CASTEiJ_G0019051
 protein coding gene Chr12:50278272-50284090 (-)
CBA/J MGP_CBAJ_G0019468
 protein coding gene Chr12:59322071-59329115 (-)
DBA/2J MGP_DBA2J_G0019584
 protein coding gene Chr12:53530861-53535696 (-)
FVB/NJ MGP_FVBNJ_G0019572
 protein coding gene Chr12:52828201-52833005 (-)
LP/J MGP_LPJ_G0019656
 protein coding gene Chr12:55611187-55617152 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019610
 protein coding gene Chr12:60870810-60875664 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020180
 protein coding gene Chr12:54761217-54768513 (-)
PWK/PhJ MGP_PWKPhJ_G0018818
 protein coding gene Chr12:47896992-47902794 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018611
 protein coding gene Chr12:49195626-49203302 (-)
WSB/EiJ MGP_WSBEiJ_G0019102
 protein coding gene Chr12:55279423-55284575 (-)



Homology
more
  • Human Ortholog
    NKX2-1, NK2 homeobox 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NKX2-1, NK2 homeobox 1
  • Synonyms
    BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1, T/EBP, TEBP, TITF1, TTF-1, TTF1
  • Links
    NCBI Gene ID: 7080
    neXtProt AC: NX_P43699
    UniProt: P43699

  • Chr Location
    14q13.3; chr14:36516392-36521149 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human NKX2-1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    69 phenotypes from 6 alleles in 12 genetic backgrounds
    9 phenotypes from multigenic genotypes
    146 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.
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
    138
  • GO References
    58
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1924
  • Tissues
    432
  • cDNA Data
    22
  • Literature Summary
    597
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21869 NCBI Gene Model | MGI Sequence Detail 4830 C57BL/6J ±  kb
    transcript NM_009385 RefSeq | MGI Sequence Detail 2686 ZRU/MplStud  
    polypeptide P50220 UniProt | EBI | MGI Sequence Detail 372 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 92
      Genomic 3
      cDNA 34
      Primer pair 22
      Other 33

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-12888, MGD-MRK-15292, MGD-MRK-37104, MGI:2144977
    References
    more
    • Summaries
      All 767
      Developmental Gene Expression 597
      Gene Ontology 58
      Phenotypes 146
    • 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:358788 Zhao R, et al., Axo-axonic synaptic input drives homeostatic plasticity by tuning the axon initial segment structurally and functionally. Sci Adv. 2024 Aug 2;10(31):eadk4331
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory