Identity
HGNC
LOCATION
15q26.1
LOCUSID
ALIAS
AGC1,AGCAN,CSPG1,CSPGCP,MSK16,SEDK,SSOAOD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 176
MIM: 155760
HGNC: 319
Ensembl: ENSG00000157766
Variants:
dbSNP: 176
ClinVar: 176
TCGA: ENSG00000157766
COSMIC: ACAN
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38613222 | 2024 | Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review. | 1 |
| 38613222 | 2024 | Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review. | 1 |
| 35239182 | 2023 | The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs. | 0 |
| 36597844 | 2023 | Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature. | 3 |
| 36972946 | 2023 | [Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene]. | 0 |
| 37227215 | 2023 | Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus. | 1 |
| 35239182 | 2023 | The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs. | 0 |
| 36597844 | 2023 | Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature. | 3 |
| 36972946 | 2023 | [Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene]. | 0 |
| 37227215 | 2023 | Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus. | 1 |
| 34652292 | 2022 | Blood and urine biomarkers in osteoarthritis - an update on cartilage associated type II collagen and aggrecan markers. | 14 |
| 35261200 | 2022 | Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families. | 3 |
| 35338222 | 2022 | Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan. | 5 |
| 34652292 | 2022 | Blood and urine biomarkers in osteoarthritis - an update on cartilage associated type II collagen and aggrecan markers. | 14 |
| 35261200 | 2022 | Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families. | 3 |
Citation
Dessen P
ACAN (aggrecan)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/53972/meetings/haematological-explorer/
