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Shox2 Gene Detail
Summary
  • Symbol
    Shox2
  • Name
    short stature homeobox 2
  • Synonyms
    6330543G17Rik, Og12x, Prx3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1201673
    NCBI Gene: 20429
  • Gene Overview
    MyGene.info: SHOX2
Location & Maps
more
  • Sequence Map
    Chr3:66971727-66981771 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10045 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 30.76 cM, cytoband E3-F1
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    SHOX2, short stature homeobox 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SHOX2, short stature homeobox 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    OG12, OG12X, SHOT
  • Links
    NCBI Gene ID: 6474
    neXtProt AC: NX_O60902

  • Chr Location
    3q25.32; chr3:158096011-158106202 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 68535
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: SHOX2
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Shox2 mouse models

Human Disease Mouse Models
       Langer Mesomelic Dysplasia; LMD   OMIM: 249700 View 1 model
Leri-Weill Dyschondrosteosis; LWD   OMIM: 127300 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 8 alleles in 9 genetic backgrounds
    2 phenotypes from multigenic genotypes
    1 images
    28 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
    14
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    12
  • Genomic Mutations
    2 involving Shox2
  • Incidental Mutations
Homozygous null mice display incomplete penetrance of embryonic lethality during organogenesis and incomplete clefting of the anterior part of the palate.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000042120 VEGA Gene Model | MGI Sequence Detail 10045 C57BL/6J ±  kb
transcript OTTMUST00000089115 VEGA | MGI Sequence Detail 3079 Not Applicable  
polypeptide OTTMUSP00000048652 VEGA | MGI Sequence Detail 331 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    3 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 35
    Genomic 5
    cDNA 18
    Primer pair 7
    Other 5

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-37044, MGI:108010, MGI:2445091
References
more
  • Summaries
    All 112
    Developmental Gene Expression 84
    Diseases 1
    Gene Ontology 9
    Phenotypes 28
  • Earliest
    J:35788 Rovescalli AC, et al., Cloning and characterization of four murine homeobox genes. Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10691-6
  • Latest
    J:232140 Xu J, et al., A Shh-Foxf-Fgf18-Shh Molecular Circuit Regulating Palate Development. PLoS Genet. 2016 Jan;12(1):e1005769

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory