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Six3 Gene Detail
Summary
  • Symbol
    Six3
  • Name
    sine oculis-related homeobox 3
  • Synonyms
    E130112M24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:102764
    NCBI Gene: 20473
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:85921036-85933619 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 55.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    250 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102764
 protein coding gene Chr17:85921036-85936730 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024088
 protein coding gene Chr17:88866938-88882570 (+)
A/J MGP_AJ_G0024047
 protein coding gene Chr17:86021842-86039819 (+)
AKR/J MGP_AKRJ_G0024016
 protein coding gene Chr17:87423590-87439214 (+)
BALB/cJ MGP_BALBcJ_G0024048
 protein coding gene Chr17:85865204-85880825 (+)
C3H/HeJ MGP_C3HHeJ_G0023813
 protein coding gene Chr17:88301848-88317485 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024493
 protein coding gene Chr17:91992077-92008576 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021932
 protein coding gene Chr17:81215581-81231303 (+)
CAST/EiJ MGP_CASTEiJ_G0023292
 protein coding gene Chr17:89108864-89124411 (+)
CBA/J MGP_CBAJ_G0023787
 protein coding gene Chr17:95798090-95816249 (+)
DBA/2J MGP_DBA2J_G0023915
 protein coding gene Chr17:84485545-84501180 (+)
FVB/NJ MGP_FVBNJ_G0023881
 protein coding gene Chr17:83979300-83994973 (+)
LP/J MGP_LPJ_G0023999
 protein coding gene Chr17:89624658-89643687 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023909
 protein coding gene Chr17:95808908-95824557 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024538
 protein coding gene Chr17:87935526-87951185 (+)
PWK/PhJ MGP_PWKPhJ_G0023037
 protein coding gene Chr17:84083179-84099286 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022848
 protein coding gene Chr17:84737470-84753120 (+)
WSB/EiJ MGP_WSBEiJ_G0023358
 protein coding gene Chr17:88792553-88810485 (+)



Homology
more
  • Human Ortholog
    SIX3, SIX homeobox 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SIX3, SIX homeobox 3
  • Synonyms
    HPE2
  • Links
    NCBI Gene ID: 6496
    neXtProt AC: NX_O95343
    UniProt: O95343

  • Chr Location
    2p21; chr2:44941702-44946071 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Six3 mouse models; 2 with human SIX3 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 5 alleles in 4 genetic backgrounds
    12 phenotypes from multigenic genotypes
    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
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.
Mice homozygous for disruptions of this gene die at birth with anterior structures of the head and brain undeveloped.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    69
  • GO References
    23
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
    1770
  • Tissues
    434
  • cDNA Data
    18
  • Literature Summary
    275
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20473 NCBI Gene Model | MGI Sequence Detail 12584 C57BL/6J ±  kb
    transcript NM_011381 RefSeq | MGI Sequence Detail 3680 ZRU/MplStud  
    polypeptide Q62233 UniProt | EBI | MGI Sequence Detail 333 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 76
      cDNA 24
      Primer pair 13
      Other 39

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-19669, MGI:1925249
    References
    more
    • Summaries
      All 324
      Developmental Gene Expression 275
      Diseases 2
      Gene Ontology 23
      Phenotypes 30
    • Earliest
      J:23775 Oliver G, et al., Homeobox genes and connective tissue patterning. Development. 1995 Mar;121(3):693-705
    • Latest
      J:357477 Ferrena A, et al., Six3 and Six6 jointly control diverse target genes in multiple cell populations over developmental trajectories of mouse embryonic retinal progenitor cells. PLoS One. 2024;19(10):e0308839
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory