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Gene : ACAN Homo sapiens

Name  ? aggrecan Cytological Location  15q26.1
Brief Description  aggrecan
Description  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]
  • synonyms:
  • CSPG1,
  • AGC1,
  • AGC1,
  • AGCAN,
  • chondroitin sulfate proteoglycan 1,
  • M55172,
  • OTTHUMG00000171989,
  • NM_001135,
  • MSK16,
  • SEDK,
  • ACAN,
  • aggrecan 1,
  • uc010upo.1,
  • MSK16,
  • CSPG1,
  • aggrecan proteoglycan,
  • HGNC:319
  • identifiers:
  • 176,
  • ENSG00000157766,
  • ACAN

Genome feature

Region: gene ? Length: 71918  
Location: 15:88803436-88875353 Cyto location: 15q26.1

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

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Gene --> Proteins.


Gene Report --> GWAS hit


3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



293 SNPs

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results