ACAN Chromosome 15
Aggrecan
Upload your DNA to see your personal genotypes for variants in ACAN.
What This Gene Does
This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing"
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000157766
Associated Conditions (13)
Inborn genetic diseases
ACAN-related disorder
Osteochondritis dissecans
Spondyloepimetaphyseal dysplasia
aggrecan type
Short stature and advanced bone age
with or without early-onset osteoarthritis and/or osteochondritis dissecans
Spondyloepiphyseal dysplasia
Kimberley type
See cases
Short stature
with early-onset osteoarthritis
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Key Variants
RS1164744935
Conflicting classifications of pathogenicity
Health Risk
RS1322140250
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147886342
Conflicting classifications of pathogenicity
Health Risk
RS149099819
Conflicting classifications of pathogenicity
Health Risk
RS150555123
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555457492
Conflicting classifications of pathogenicity
Health Risk
RS1567195445
Conflicting classifications of pathogenicity
ACAN-related disorder, ACAN-related disorder
Health Risk
RS1596130811
Conflicting classifications of pathogenicity
Health Risk
RS182894280
Conflicting classifications of pathogenicity
Health Risk
RS199701329
Conflicting classifications of pathogenicity
Osteochondritis dissecans, Inborn genetic diseases, ACAN-related disorder
Health Risk
RS199999713
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200239326
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (163)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749151163 | Health Risk | Pathogenic | — |
| RS750130640 | Health Risk | Pathogenic | — |
| RS758892087 | Health Risk | Pathogenic | — |
| RS759209767 | Health Risk | Pathogenic | — |
| RS761241049 | Health Risk | Pathogenic | — |
| RS762147927 | Health Risk | Pathogenic | — |
| RS777726601 | Health Risk | Pathogenic | — |
| RS1356219990 | Health Risk | Pathogenic/Likely pathogenic | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Spondyloepiphyseal dysplasia |
| RS1489993778 | Health Risk | Pathogenic/Likely pathogenic | ACAN-related disorder, ACAN-related disorder |
| RS2141581781 | Health Risk | Pathogenic/Likely pathogenic | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Short stature and advanced bone age |
| RS2141610121 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS765556817 | Health Risk | Pathogenic/Likely pathogenic | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, Short stature and advanced bone age |
| RS773948197 | Health Risk | Pathogenic/Likely pathogenic | — |