AlphaFold predicted structure
SIX5 · Q8N196
Mean pLDDT
51.3/ 100
Low
739 residues
Confidence breakdown
- Very high(≥ 90)16%
- Confident(70–90)7%
- Low(50–70)10%
- Very low(< 50)68%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SIX5
Chr 19q13.32SIX homeobox 5
- MANE:
- ENST00000317578.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownBilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDeafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDuctal plate malformation
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
BOR syndrome
0.74neurodegenerative disease
0.48branchio-oto-renal syndrome
0.37early-onset non-syndromic cataract
0.12Total congenital cataract
0.12Posterior polar cataract
0.12early-onset zonular cataract
0.12Partial congenital cataract
0.12early-onset nuclear cataract
0.12Cataract with Y-shaped suture opacities
0.12
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Homeobox protein SIX5
Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity)
Diseases associated with SIX5
Curated MONDO disease pages that list SIX5 among their top associated genes.