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Gene : COL9A3 Homo sapiens

Name  ? collagen type IX alpha 3 chain Cytological Location  20q13.33
Brief Description  collagen type IX alpha 3 chain
Description  This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
  • synonyms:
  • EDM3,
  • OTTHUMG00000032938,
  • collagen type IX proteoglycan,
  • FLJ90759,
  • COL9A3,
  • HGNC:2219,
  • collagen, type IX, alpha 3,
  • IDD,
  • IDD,
  • NM_001853,
  • DJ885L7.4.1,
  • uc002ydm.3,
  • MED,
  • DJ885L7.4.1,
  • MED,
  • EDM3,
  • AK075240
  • identifiers:
  • 1299,
  • ENSG00000092758,
  • COL9A3

Genome feature

Region: gene ? Length: 24110  
Location: 20:62817050-62841159 Cyto location: 20q13.33


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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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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

482 SN Ps

5 Cross References

20 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results