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Heph
Gene Detail
Symbol

Name
ID
Heph
hephaestin
MGI:1332240
Synonyms
C130006F04Rik, Cpl, mKIAA0698, sex linked anemia, sla
Feature Type
protein coding gene
Genetic Map
Chromosome X
42.69 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
ChrX:96455359-96574485 bp, + strand
From VEGA annotation of GRCm38

  119127 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32094  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: ceruloplasmin-like multicopper ferroxidase
Gene Tree: Heph

Human
homologs
Human Homolog HEPH, hephaestin
NCBI Gene ID 9843
neXtProt AC  NX_Q9BQS7
Human Synonyms  CPL
Human Chr (Location)  Xq11-q12; chrX:66162549-66267389 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(1) Radiation induced(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut.
 
Alleles Annotated to Human Diseases(1)    Phenotype Images(3)
Interactions
Heph interacts with 240 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process cellular iron ion homeostasis, copper ion transport, ...
Component basolateral plasma membrane, integral component of membrane, ...
Function copper ion binding, epoxyqueuosine reductase activity, ...
External Resources: FuncBase
Expression
cDNA source data(46)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(48) Genomic(1) cDNA(47)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000018531 (Evidence)
Ensembl Gene ModelENSMUSG00000031209 (Evidence)
Entrez Gene15203 (Evidence)
UniGene277092
DFCITC1580123, TC1612145, TC1607414, TC1583790
DoTSDT.102556446, DT.101354211, DT.97410699, DT.91579196, DT.87025372, DT.522494
NIA Mouse Gene IndexU020034
EC1.-.-.-
Consensus CDS ProjectCCDS30289.1, CCDS30290.1
International Mouse Knockout Project StatusHeph
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018531 VEGA Gene Model | MGI Sequence Detail 119127 C57BL/6J ±  kb
transcript OTTMUST00000044663 VEGA | MGI Sequence Detail 4743 Not Applicable 
polypeptide OTTMUSP00000020087 VEGA | MGI Sequence Detail 1157 Not Applicable 

For the selected sequences
All sequences(57) RefSeq(12) UniProt(5)
Polymorphisms
SNPs within 2kb(196 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008972 Cupredoxin
InterPro IPR027154 Hephaestin
InterPro IPR002355 Multicopper oxidase, copper-binding site
InterPro IPR011706 Multicopper oxidase, type 2
InterPro IPR011707 Multicopper oxidase, type 3
Protein Ontology PR:000008511 hephaestin
References
(Earliest) J:14 Falconer DS, et al., The genetics of sex-linked anaemia in the mouse. Genet Res. 1962;3:248-50
(Latest) J:196540 Wolkow N, et al., Ferroxidase hephaestin's cell-autonomous role in the retinal pigment epithelium. Am J Pathol. 2012 Apr;180(4):1614-24
All references(59)
Other
accession IDs
MGD-MRK-14436, MGI:2445196, MGI:98315

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory