help  | about  | cite  | software

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

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

16 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results