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Gene : ECE1 Homo sapiens

Name  ? endothelin converting enzyme 1 Cytological Location  1p36.12
Brief Description  endothelin converting enzyme 1
Description  The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]
  • synonyms:
  • ECE,
  • HGNC:3146,
  • ECE1,
  • NM_001397,
  • ECE,
  • uc001bek.3,
  • OTTHUMG00000002625,
  • D49471
  • identifiers:
  • 1889,
  • ENSG00000117298,
  • ECE1

Genome feature

Region: gene ? Length: 128255  
Location: 1:21217250-21345504 reverse strand Cyto location: 1p36.12


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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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Proteins

Gene --> Proteins.

SNPs

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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

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Other

216 SN Ps

5 Cross References

19 Data Sets

52 Homologues

0 Located Features

97 Rna Seq Results