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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
  • Gene Overview
    MyGene.info: SIX5
Location & Maps
more
  • Sequence Map
    Chr7:19094594-19098549 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3956 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.46 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SIX5, SIX homeobox 5
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SIX5, SIX homeobox 5
    Orthology source: HomoloGene
  • Synonyms
    BOR2, DMAHP
  • Links
    NCBI Gene ID: 147912
    neXtProt AC: NX_Q8N196

  • Chr Location
    19q13.32; chr19:45764785-45769239 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SIX5 associations

Human Disease Mouse Models
       Branchiootorenal Syndrome 2; BOR2   OMIM: 610896
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 2 alleles in 3 genetic backgrounds
    27 phenotypes from multigenic genotypes
    24 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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000040064 VEGA Gene Model | MGI Sequence Detail 3956 C57BL/6J ±  kb
transcript OTTMUST00000104039 VEGA | MGI Sequence Detail 3007 Not Applicable  
polypeptide OTTMUSP00000058174 VEGA | MGI Sequence Detail 719 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    27 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 19
    Genomic 2
    cDNA 14
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-33912
References
more
  • Summaries
    All 46
    Developmental Gene Expression 14
    Diseases 9
    Gene Ontology 9
    Phenotypes 24
  • 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:168654 Chung YC, et al., Screening large numbers of expression patterns of transcription factors in late stages of the mouse thymus. Gene Expr Patterns. 2011 Jan-Feb;11(1-2):84-92

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
08/17/2016
MGI 6.05
The Jackson Laboratory