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Gene : EPS15 Homo sapiens

Name  ? epidermal growth factor receptor pathway substrate 15 Cytological Location  1p32.3
Brief Description  epidermal growth factor receptor pathway substrate 15
Description  This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
  • synonyms:
  • AF-1P,
  • AF1P,
  • MLLT5,
  • MLLT5,
  • uc001csq.2,
  • EPS15,
  • NM_001981,
  • AF-1P,
  • BC054006,
  • HGNC:3419,
  • OTTHUMG00000008192
  • identifiers:
  • 2060,
  • ENSG00000085832,
  • EPS15

Genome feature

Region: gene ? Length: 165013  
Location: 1:51354263-51519275 reverse strand Cyto location: 1p32.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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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]

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Expression

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Other

3753 SN Ps

5 Cross References

17 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results