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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:
  • OTTHUMG00000171989,
  • SEDK,
  • chondroitin sulfate proteoglycan 1,
  • M55172,
  • MSK16,
  • HGNC:319,
  • aggrecan 1,
  • AGC1,
  • uc010upo.1,
  • AGC1,
  • CSPG1,
  • CSPGCP,
  • MSK16,
  • SSOAOD,
  • NM_001135,
  • CSPGCP,
  • CSPG1,
  • aggrecan proteoglycan,
  • AGCAN,
  • ACAN
  • identifiers:
  • 176,
  • ENSG00000157766,
  • ACAN

Genome feature

Region: gene ? Length: 71913  
Location: 15:88803442-88875354 Cyto location: 15q26.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

88 SN Ps

5 Cross References

19 Data Sets

11 Homologues

0 Located Features

90 Rna Seq Results