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Gene: HEPH (hephaestin) Homo sapiens
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Symbol: HEPH
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CPL; KIAA0698
Orthologs:
Mus musculus (house mouse) : Heph (hephaestin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Heph (hephaestin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Heph (hephaestin)
Pan paniscus (bonobo/pygmy chimpanzee) : HEPH (hephaestin)
Canis lupus familiaris (dog) : HEPH (hephaestin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Heph (hephaestin)
Sus scrofa (pig) : HEPH (hephaestin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X66,162,526 - 66,267,389 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X65,382,433 - 65,487,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X65,299,388 - 65,403,956 (+)NCBINCBI36hg18NCBI36
Build 34X65,165,683 - 65,270,249NCBI
CeleraX65,729,951 - 65,834,741 (+)NCBI
Cytogenetic MapXq12NCBI
HuRefX59,211,026 - 59,315,881 (+)NCBIHuRef
CHM1_1X65,275,228 - 65,380,018 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on HEPH
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 734284
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.