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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Six5

Human homologs

Human Homolog		SIX5, SIX homeobox 5
NCBI Gene ID		147912
neXtProt AC		NX_Q8N196
Human Synonyms		BOR2, DMAHP
Human Chr (Location)		19q13.32; chr19:46268043-46272497 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SIX5

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

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

All GO classifications: (13 annotations)

Process	lens development in camera-type eye, multicellular organismal development, ...
Component	cytoplasm, nucleus
Function	DNA binding, sequence-specific DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (13 records)
Data Summary: Results (173)    Tissues (162)    Images (16)
Theiler Stages: 14, 15, 17, 20, 21, 22, 23, 28

Assay Type	Results
RNA in situ	156
RT-PCR	17

cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Six5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000040064	VEGA Gene Model | MGI Sequence Detail	3956	C57BL/6J
transcript	OTTMUST00000104039	VEGA | MGI Sequence Detail	3007	Not Applicable
polypeptide	OTTMUSP00000058174	VEGA | MGI Sequence Detail	719	Not Applicable

All sequences(16) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(19 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(49)

Other accession IDs

MGD-MRK-33912