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homeobox protein SIX6; homeodomain protein OPTX2; optic homeobox 2; sine oculis homeobox homolog 6 (SIX6, OPTX2, SIX9)
Function:
- may be involved in eye development
Structure:
- belongs to the SIX/sine oculis homeobox family
- contains 1 homeobox DNA-binding domain
Compartment: nucleus (putative)
Expression:
- expressed in the developing & adult retina
- also expressed in the hypothalamic & the pituitary regions
Pathology:
- defects in SIX6 are the cause of microphthalmia isolated with cataract type 2
General
homeobox protein SIX; sine oculis homeobox homolog (SIX)
phosphoprotein
Properties
SIZE: entity length = 246 aa
MW = 28 kD
COMPARTMENT: cell nucleus
MOTIF: homeodomain
SITE: 128-187
Thr phosphorylation site {T212}
Ser phosphorylation site {S221}
Ser phosphorylation site {S225}
Ser phosphorylation site {S227}
Ser phosphorylation site {S228}
Database Correlations
OMIM correlations
MORBIDMAP 606326
UniProt O95475
Pfam PF00046
Entrez Gene 4990
Kegg hsa:4990
References
- UniProt :accession O95475
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SIX6