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Nkx3-2 Gene Detail
Summary
  • Symbol
    Nkx3-2
  • Name
    NK3 homeobox 2
  • Synonyms
    Bapx1, Nkx-3.2
  • Feature Type
    protein coding gene
  • IDs
    MGI:108015
    NCBI Gene: 12020
Location & Maps
more
  • Sequence Map
    Chr5:41761483-41764501 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3019 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 22.58 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NKX3-2, NK3 homeobox 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    NKX3-2, NK3 homeobox 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BAPX1, NKX3.2, NKX3B, SMMD
  • Links
    NCBI Gene ID: 579
    neXtProt AC: NX_P78367

  • Chr Location
    4p15.33; chr4:13540830-13544490 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human NKX3-2 associations

Human Disease Mouse Models
       Spondylo-Megaepiphyseal-Metaphyseal Dysplasia; SMMD   OMIM: 613330
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    72 phenotypes from 7 alleles in 5 genetic backgrounds
    31 phenotypes from multigenic genotypes
    5 images
    42 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
    20
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    14
  • Genomic Mutations
    6 involving Nkx3-2
  • Incidental Mutations
Homozygous null mutants are perinatal lethal, lack a spleen, and display skeletal dysplasia of the vertebral column and cranium.
Gene Ontology
(GO)
Classifications
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  • 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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036567 VEGA Gene Model | MGI Sequence Detail 3019 C57BL/6J ±  kb
transcript OTTMUST00000093782 VEGA | MGI Sequence Detail 1718 Not Applicable  
polypeptide OTTMUSP00000052105 VEGA | MGI Sequence Detail 333 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    18 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 19
    Genomic 3
    cDNA 11
    Primer pair 3
    Other 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-37050
References
more
  • Summaries
    All 83
    Developmental Gene Expression 43
    Diseases 2
    Gene Ontology 11
    Phenotypes 42
  • Earliest
    J:37599 Wightman PJ, et al., The genes encoding glucokinase regulatory protein and ketohexokinase co-localize to mouse chromosome 5. Mamm Genome. 1997 Sep;8(9):700-1
  • Latest
    J:235727 Kuta A, et al., Fat4-Dchs1 signalling controls cell proliferation in developing vertebrae. Development. 2016 Jul 1;143(13):2367-75

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
11/29/2016
MGI 6.06
The Jackson Laboratory