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Six6 Gene Detail
Summary
  • Symbol
    Six6
  • Name
    sine oculis-related homeobox 6
  • Synonyms
    Optx2, Six9
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341840
    NCBI Gene: 20476
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:72986666-72991673 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 30.31 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    155 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341840
 protein coding gene Chr12:72986656-72991673 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019831
 protein coding gene Chr12:72807171-72812182 (+)
A/J MGP_AJ_G0019789
 protein coding gene Chr12:70097916-70102914 (+)
AKR/J MGP_AKRJ_G0019764
 protein coding gene Chr12:72217777-72222784 (+)
BALB/cJ MGP_BALBcJ_G0019769
 protein coding gene Chr12:70573174-70578172 (+)
C3H/HeJ MGP_C3HHeJ_G0019574
 protein coding gene Chr12:72645966-72650964 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020221
 protein coding gene Chr12:75078098-75083105 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017839
 protein coding gene Chr12:67552226-67557227 (+)
CAST/EiJ MGP_CASTEiJ_G0019126
 protein coding gene Chr12:67434953-67439956 (+)
CBA/J MGP_CBAJ_G0019544
 protein coding gene Chr12:77918150-77923148 (+)
DBA/2J MGP_DBA2J_G0019660
 protein coding gene Chr12:69982857-69987864 (+)
FVB/NJ MGP_FVBNJ_G0019647
 protein coding gene Chr12:68843358-68848365 (+)
LP/J MGP_LPJ_G0019732
 protein coding gene Chr12:72836424-72841431 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019686
 protein coding gene Chr12:81092373-81097368 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020256
 protein coding gene Chr12:71693861-71698868 (+)
PWK/PhJ MGP_PWKPhJ_G0018891
 protein coding gene Chr12:64294299-64299322 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018686
 protein coding gene Chr12:66108058-66113059 (+)
WSB/EiJ MGP_WSBEiJ_G0019177
 protein coding gene Chr12:72290791-72295798 (+)



Homology
more
  • Human Ortholog
    SIX6, SIX homeobox 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SIX6, SIX homeobox 6
  • Synonyms
    MCOPCT2, ODRMD, OPTX2, Six9
  • Links
    NCBI Gene ID: 4990
    neXtProt AC: NX_O95475
    UniProt: O95475

  • Chr Location
    14q23.1; chr14:60509146-60512850 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SIX6 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 1 allele in 2 genetic backgrounds
    15 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 in this gene display retinal and pituitary gland hypoplasia, hypothalamic dysregulation, and reduced male and female fertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    6
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
    1115
  • Tissues
    224
  • cDNA Data
    30
  • Literature Summary
    56
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021099 Ensembl Gene Model | MGI Sequence Detail 5008 C57BL/6J ±  kb
    transcript ENSMUST00000021519 Ensembl | MGI Sequence Detail 4009 Not Applicable  
    polypeptide ENSMUSP00000021519 Ensembl | MGI Sequence Detail 246 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 43
      cDNA 32
      Primer pair 8
      Other 3

      Microarray probesets 4
    References
    more
    • Summaries
      All 93
      Developmental Gene Expression 56
      Gene Ontology 6
      Phenotypes 15
    • Earliest
      J:55598 Toy J, et al., The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes. Proc Natl Acad Sci U S A. 1998 Sep 1;95(18):10643-8
    • 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