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Gene : HEPH Homo sapiens

Name  ? hephaestin Cytological Location  Xq12
Brief Description  hephaestin
Description  This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
  • synonyms:
  • HGNC:4866,
  • AB014598,
  • HEPH,
  • KIAA0698,
  • OTTHUMG00000021732,
  • CPL,
  • NM_138737,
  • CPL,
  • uc011moz.4
  • identifiers:
  • 9843,
  • ENSG00000089472,
  • HEPH

Genome feature

Region: gene ? Length: 106338  
Location: X:66162526-66268863 Cyto location: Xq12


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Function

Gene Ontology Displayer

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

3753 SN Ps

5 Cross References

16 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results