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Gene : CSTL1 Homo sapiens

Name  ? cystatin like 1 Cytological Location  20p11.21
Brief Description  cystatin like 1
Description  The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008]
  • synonyms:
  • CTES1,
  • uc002wte.3,
  • cystatin-like 1,
  • dJ322G13.4,
  • OTTHUMG00000032068,
  • CTES1,
  • CSTL1,
  • RCET11,
  • AL096677,
  • dJ322G13.4,
  • NM_138283,
  • HGNC:15958
  • identifiers:
  • 128817,
  • ENSG00000125823,
  • CSTL1

Genome feature

Region: gene ? Length: 21540  
Location: 20:23439670-23461209 Cyto location: 20p11.21


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Function

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0 Pathways

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

0 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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3740 SNPs

3 Cross References

11 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results