AlphaFold predicted structure
ACAN · P16112
Mean pLDDT
51.9/ 100
Low
2,530 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)12%
- Low(50–70)18%
- Very low(< 50)54%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ACAN
Chr 15q26.1aggrecan
- Aliases:
- CSPGCP
- MANE:
- ENST00000560601.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMonogenic short stature
BOTH monoallelic and biallelic, autosomal or pseudoautosomalSkeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
Osteogenesis imperfecta
Disease associations (Open Targets)
spondyloepimetaphyseal dysplasia, aggrecan type
0.75Familial osteochondritis dissecans
0.75spondyloepiphyseal dysplasia, Kimberley type
0.73osteochondritis dissecans
0.71Abnormality of the skeletal system
0.57hereditary disease
0.55osteoarthritis, knee
0.52osteoarthritis, hip
0.51spondyloepiphyseal dysplasia
0.50osteoarthritis
0.48
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Aggrecan core protein
This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region
Diseases associated with ACAN
Curated MONDO disease pages that list ACAN among their top associated genes.