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 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:65382433-65487231 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(5) : Targeted(3) Chemically induced(1) Radiation induced(1)
 

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.

 
Human Diseases Modeled Using Mouse Heph (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	copper ion transport, erythrocyte differentiation, ...
Component	integral to membrane, membrane, ...
Function	copper ion binding, metal ion binding, ...

External Resources: FuncBase

Expression

cDNA source data(46)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(48) Genomic(1) cDNA(47)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000018531 (Evidence)
Ensembl Gene Model	ENSMUSG00000031209 (Evidence)
Entrez Gene	15203 (Evidence)
UniGene	277092
DFCI	TC1580123, TC1583790, TC1607414, TC1612145
DoTS	DT.101354211, DT.102556446, DT.522494, DT.87025372, DT.91579196, DT.97410699
NIA Mouse Gene Index	U020034
EC	1.-.-.-
Consensus CDS Project	CCDS30289.1, CCDS30290.1
International Mouse Knockout Project Status	Heph

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018531	VEGA Gene Model | MGI Sequence Detail	119127	C57BL/6J
transcript	OTTMUST00000044663	VEGA | MGI Sequence Detail	4743	Not Applicable
polypeptide	OTTMUSP00000020087	VEGA | MGI Sequence Detail	1157	Not Applicable

All sequences(51) RefSeq(8) UniProt(3)

Polymorphisms

SNPs(169 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008972	Cupredoxin
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:177041 Schulz K, et al., Iron efflux from oligodendrocytes is differentially regulated in gray and white matter. J Neurosci. 2011 Sep 14;31(37):13301-11
All references(56)

Other accession IDs

MGD-MRK-14436, MGI:2445196, MGI:98315