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Gene: HEPH (hephaestin) Homo sapiens
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Symbol: HEPH
Name: hephaestin
Description: Exhibits copper ion binding activity; ferrous iron binding activity; and ferroxidase activity. Involved in iron ion transport. Localizes to the basolateral plasma membrane.
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)
Chlorocebus sabaeus (green monkey) : HEPH (hephaestin)
Heterocephalus glaber (naked mole-rat) : Heph (hephaestin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX66,162,549 - 66,268,867 (+)Ensembl
GRCh38X66,162,526 - 66,268,863 (+)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

Expression

RNA-SEQ Expression

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

RGD Object Information
RGD ID: 734284
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-12-25
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.