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Gene : COL13A1 Homo sapiens

Name  ? collagen type XIII alpha 1 chain Cytological Location  10q22.1
Brief Description  collagen type XIII alpha 1 chain
Description  This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc057tul.1,
  • COLXIIIA1,
  • OTTHUMG00000018394,
  • AJ293624,
  • HGNC:2190,
  • COL13A1,
  • collagen, type XIII, alpha 1,
  • CMS19,
  • NM_005203
  • identifiers:
  • 1305,
  • ENSG00000197467,
  • COL13A1

Genome feature

Region: gene ? Length: 157310  
Location: 10:69801835-69959144 Cyto location: 10q22.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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

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Other

268 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results