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Six5 Gene Detail
Summary
  • Symbol
    Six5
  • Name
    sine oculis-related homeobox 5
  • Synonyms
    Dmahp, MDMAHP, TrexBF
  • Feature Type
    protein coding gene
  • IDs
    MGI:106220
    NCBI Gene: 20475
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:18828519-18832474 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 9.46 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    27 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106220
 protein coding gene Chr7:18828469-18832474 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031758
 protein coding gene Chr7:17047654-17051606 (+)
A/J MGP_AJ_G0031734
 protein coding gene Chr7:16734806-16738760 (+)
AKR/J MGP_AKRJ_G0031660
 protein coding gene Chr7:17193688-17197642 (+)
BALB/cJ MGP_BALBcJ_G0031739
 protein coding gene Chr7:16928182-16932136 (+)
C3H/HeJ MGP_C3HHeJ_G0031461
 protein coding gene Chr7:17453756-17457734 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032205
 protein coding gene Chr7:17938048-17941820 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029271
 protein coding gene Chr7:18383335-18387299 (+)
CAST/EiJ MGP_CASTEiJ_G0030804
 protein coding gene Chr7:13855384-13859336 (+)
CBA/J MGP_CBAJ_G0031423
 protein coding gene Chr7:18586289-18590265 (+)
DBA/2J MGP_DBA2J_G0031578
 protein coding gene Chr7:16670464-16674418 (+)
FVB/NJ MGP_FVBNJ_G0031530
 protein coding gene Chr7:16534741-16538692 (+)
LP/J MGP_LPJ_G0031661
 protein coding gene Chr7:17390845-17396310 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031566
 protein coding gene Chr7:18449872-18453824 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032233
 protein coding gene Chr7:16800626-16804580 (+)
PWK/PhJ MGP_PWKPhJ_G0030528
 protein coding gene Chr7:13759331-13763281 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030355
 protein coding gene Chr7:11484625-11488583 (+)
WSB/EiJ MGP_WSBEiJ_G0030904
 protein coding gene Chr7:17005847-17009801 (+)



Homology
more
  • Human Ortholog
    SIX5, SIX homeobox 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SIX5, SIX homeobox 5
  • Synonyms
    BOR2, DMAHP
  • Links
    NCBI Gene ID: 147912
    neXtProt AC: NX_Q8N196
    UniProt: Q8N196

  • Chr Location
    19q13.32; chr19:45764785-45769252 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SIX5 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
    16 phenotypes from 2 alleles in 3 genetic backgrounds
    12 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 mutants exhibit a high incidence of progressive cataracts with background-dependent penetrance. Heterozygotes exhibit a similar phenotype, but with reduced incidence and severity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    10
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
non-membrane-bounded 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
    897
  • Tissues
    172
  • cDNA Data
    15
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040841 Ensembl Gene Model | MGI Sequence Detail 3956 C57BL/6J ±  kb
    transcript ENSMUST00000049454 Ensembl | MGI Sequence Detail 3007 Not Applicable  
    polypeptide ENSMUSP00000045973 Ensembl | MGI Sequence Detail 719 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      Genomic 2
      cDNA 15
      Primer pair 5
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-33912
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 18
      Gene Ontology 10
      Phenotypes 12
    • Earliest
      J:31986 Boucher CA, et al., A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet. 1995 Oct;4(10):1919-25
    • Latest
      J:336860 Wurmser M, et al., Overlapping functions of SIX homeoproteins during embryonic myogenesis. PLoS Genet. 2023 Jun;19(6):e1010781
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory