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Gene : ASPN Homo sapiens

Name  ? asporin Cytological Location  9q22.31
Brief Description  asporin
Description  This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]
  • synonyms:
  • PLAP1,
  • ASPN,
  • FLJ20129,
  • PLAP-1,
  • asporin proteoglycan,
  • OTTHUMG00000020227,
  • OS3,
  • NM_017680,
  • HGNC:14872,
  • uc004ase.3,
  • SLRR1C,
  • asporin (LRR class 1),
  • PLAP-1,
  • SLRR1C,
  • AF316824
  • identifiers:
  • 54829,
  • ENSG00000106819,
  • ASPN

Genome feature

Region: gene ? Length: 26302  
Location: 9:92456205-92482506 reverse strand Cyto location: 9q22.31


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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

2 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

119 SN Ps

4 Cross References

16 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results