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Six5
Gene Detail
Symbol

Name
ID
Six5
sine oculis-related homeobox 5
MGI:106220
Synonyms
Dmahp, MDMAHP, TrexBF
Feature Type
protein coding gene
Genetic Map
Chromosome 7
9.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:19094594-19098549 bp, + strand
From VEGA annotation of GRCm38

  3956 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:72248  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

HCOP human homology predictions: SIX5
Gene Tree: Six5

Human
homologs
SIX5, SIX homeobox 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 147912
neXtProt AC: NX_Q8N196

Human Synonyms: BOR2, DMAHP

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

Disease Associations: (1) Diseases Associated with Human SIX5

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(4) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Mutations Annotated to Human Diseases (2)   
Interactions
Six5 interacts with 126 markers (Mir7b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (13 records)
Data Summary: Results (174)    Tissues (164)    Images (17)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 157
RT-PCR 17
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN six5    NEW 
Molecular
reagents
All nucleic(19) Genomic(2) cDNA(14) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000040064 (Evidence)
Ensembl Gene Model ENSMUSG00000040841 (Evidence)
Entrez Gene 20475 (Evidence)
UniGene 3410
DFCI TC1601436
DoTS DT.55188464
NIA Mouse Gene Index U007753
Consensus CDS Project CCDS20889.1
International Mouse Phenotyping Consortium Status Six5
Sequences
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 sequences
All sequences(18) RefSeq(4) UniProt(1)
Polymorphisms
SNPs within 2kb(28 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
Protein Ontology PR:000014900 homeobox protein SIX5
References
(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
All references(48)
Other
accession IDs
MGD-MRK-33912

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
06/23/2015
MGI 5.22
The Jackson Laboratory