ACAN aggrecan
Gene ID: 176, updated on 5-Mar-2024Gene type: protein coding
Also known as: AGC1; SEDK; AGCAN; CSPG1; MSK16; CSPGCP; SSOAOD
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- Go to complete Gene record for ACAN
- Go to Variation Viewer for ACAN variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A novel common variant in DCST2 is associated with length in early life and height in adulthood. GeneReviews: Not available | |
| Genome-wide association analysis identifies 20 loci that influence adult height. GeneReviews: Not available | |
| Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | See labs |
| Spondyloepimetaphyseal dysplasia, aggrecan type | See labs |
| Spondyloepiphyseal dysplasia, Kimberley type | See labs |
Genomic context
- Location:
- 15q26.1
- Sequence:
- Chromosome: 15; NC_000015.10 (88803436..88875353)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACAN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ACAN database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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