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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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:66971727-66981771 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 30.76 cM, cytoband E3-F1
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1201673
protein coding gene Chr3:66971723-66981771 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027277
protein coding gene Chr3:66112865-66122928 (-)
A/J MGP_AJ_G0027238
protein coding gene Chr3:64178866-64189054 (-)
AKR/J MGP_AKRJ_G0027207
protein coding gene Chr3:65528044-65538072 (-)
BALB/cJ MGP_BALBcJ_G0027250
protein coding gene Chr3:64026400-64038180 (-)
C3H/HeJ MGP_C3HHeJ_G0026994
protein coding gene Chr3:65798563-65808616 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027696
protein coding gene Chr3:68580932-68590961 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025049
protein coding gene Chr3:60533388-60543472 (-)
CAST/EiJ MGP_CASTEiJ_G0026441
protein coding gene Chr3:65740806-65750840 (-)
CBA/J MGP_CBAJ_G0026969
protein coding gene Chr3:70709628-70719709 (-)
DBA/2J MGP_DBA2J_G0027105
protein coding gene Chr3:63685107-63695167 (-)
FVB/NJ MGP_FVBNJ_G0027073
protein coding gene Chr3:62324777-62334818 (-)
LP/J MGP_LPJ_G0027213
protein coding gene Chr3:67052637-67062678 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027091
protein coding gene Chr3:75306369-75317477 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027754
protein coding gene Chr3:65438303-65448344 (-)
PWK/PhJ MGP_PWKPhJ_G0026175
protein coding gene Chr3:63431209-63441450 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025991
protein coding gene Chr3:64578058-64588150 (-)
WSB/EiJ MGP_WSBEiJ_G0026519
protein coding gene Chr3:65543577-65553621 (-)



Homology
more
  • Human Ortholog
    SHOX2, short stature homeobox 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SHOX2, short stature homeobox 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    OG12, OG12X, SHOT
  • Links
    NCBI Gene ID: 6474
    neXtProt AC: NX_O60902
    UniProt: O60902

  • Chr Location
    3q25.32; chr3:158096011-158106212 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 8 alleles in 9 genetic backgrounds
    2 phenotypes from multigenic genotypes
    5 images
    30 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027833 Ensembl Gene Model | MGI Sequence Detail 10045 C57BL/6J ±  kb
    transcript ENSMUST00000029422 Ensembl | MGI Sequence Detail 3079 Not Applicable  
    polypeptide ENSMUSP00000029422 Ensembl | MGI Sequence Detail 331 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 6
      cDNA 18
      Primer pair 7
      Other 7

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-37044, MGI:108010, MGI:2445091
    References
    more
    • Summaries
      All 128
      Developmental Gene Expression 94
      Diseases 2
      Gene Ontology 10
      Phenotypes 30
    • 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:264402 Welsh IC, et al., Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. J Anat. 2018 Aug;233(2):222-242

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory