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Shox2 Gene Detail
Summary
  • Symbol
    Shox2
  • Name
    SHOX homeobox 2
  • Synonyms
    6330543G17Rik, Og12x, Prx3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1201673
    NCBI Gene: 20429
  • Alliance
    genome feature page
  • Transcription Start Sites
    6 TSS
  • Regulated by
    Rr61, Rr60 (2 regulatory regions)
Location &
Maps
more
  • Sequence Map
    Chr3:66879060-66889104 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 30.76 cM, cytoband E3-F1
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    138 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1201673
 protein coding gene Chr3:66879056-66889104 (-)
129S1/SvImJ ENSMUSG00200001036
 protein coding gene Chr3:63634005-63644047 (-)
A/J ENSMUSG00195025919
 protein coding gene Chr3:63748103-63758147 (-)
AKR/J ENSMUSG00220024470
 protein coding gene Chr3:63778411-63788469 (-)
BALB/cJ ENSMUSG00180008049
 protein coding gene Chr3:63799467-63809521 (-)
C3H/HeJ ENSMUSG00175003282
 protein coding gene Chr3:63650420-63660466 (-)
C57BL/6NJ ENSMUSG00215005452
 protein coding gene Chr3:64093812-64103856 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025049
 protein coding gene Chr3:60533388-60543472 (-)
CAST/EiJ ENSTCUG00005021933
 protein coding gene Chr3:63305351-63315406 (-)
CBA/J ENSMUSG00210002173
 protein coding gene Chr3:63734521-63744574 (-)
DBA/2J ENSMUSG00185014631
 protein coding gene Chr3:63896192-63906241 (-)
FVB/NJ ENSMUSG00205009126
 protein coding gene Chr3:62815079-62825133 (-)
JF1/MsJ ENSUMUG00000000763
 protein coding gene Chr3:63514773-63524864 (-)
LP/J ENSMUSG00230001863
 protein coding gene Chr3:65916709-65926751 (-)
NOD/ShiLtJ ENSMUSG00190002853
 protein coding gene Chr3:64199793-64209854 (-)
NZO/HlLtJ ENSMUSG00225001715
 protein coding gene Chr3:68639223-68649270 (-)
PWK/PhJ ENSLUMG00010014478
 protein coding gene Chr3:63585584-63595684 (-)
SPRET/EiJ ENSMSPG00010007444
 protein coding gene Chr3:64071723-64081866 (-)
WSB/EiJ ENSIUOG00005015668
 protein coding gene Chr3:64126791-64136894 (-)



Homology
more
  • Human Ortholog
    SHOX2, SHOX homeobox 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SHOX2, SHOX homeobox 2
  • Synonyms
    OG12, OG12X, SHOT
  • Links
    NCBI Gene ID: 6474
    UniProt: O60902

  • Chr Location
    3q25.32; chr3:158095905-158106420 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Shox2 mouse models; 1 with human SHOX2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    32 phenotypes from 7 alleles in 8 genetic backgrounds
    12 phenotypes from multigenic genotypes
    5 images
    66 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.
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
    40
  • GO References
    15
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
    1235
  • Tissues
    312
  • cDNA Data
    22
  • Literature Summary
    142
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 73
      Genomic 6
      cDNA 29
      Primer pair 17
      Other 21
      Antibodies 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-37044, MGI:108010, MGI:2445091
    References
    more
    • Summaries
      All 218
      Developmental Gene Expression 142
      Diseases 2
      Gene Ontology 15
      Phenotypes 66
    • 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:382967 Joo K, et al., Cardiac conduction system malformations in heterotaxy result from dysregulated Pitx2 expression. JCI Insight. 2026 Mar 23;11(6)
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory