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Hfe2
Gene Detail
 Symbol
Name
ID
Hfe2
hemochromatosis type 2 (juvenile) (human homolog)
MGI:1916835
Synonyms 2310035L15Rik, 5230400G09Rik, DL-M, hemojuvelin, HJV, Rgmc
Feature Type protein coding gene
Genetic Map
Chromosome 3
41.91 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr3:96525185-96529216 bp, + strand
From NCBI annotation of GRCm38

  4032 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:17060  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Hfe2

Human
homologs
Human Homolog HFE2, hemochromatosis type 2 (juvenile)
NCBI Gene ID 148738
neXtProt AC  NX_Q6ZVN8
Human Synonyms  HFE2A, HJV, JH, RGMC
Human Chr (Location)  1q21.1; chr1:146017468-146021822 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human HFE2
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
 
Mice homozygous for a knock-out allele exhibit lack of hepcidin expression, severe iron overload and male sterility. Mice homozygous for a different knock-out allele display systemic iron overload, a severe deficit in hepcidin production, overexpression of ferroportin but normal male fertility.
 
Human Diseases Modeled Using Mouse Hfe2 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)
Interactions
Hfe2 interacts with 82 markers (Mir10b, Mir22, Mir29a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process BMP signaling pathway, iron ion homeostasis, ...
Component anchored component of membrane, basolateral plasma membrane, ...
Function coreceptor activity, protein binding
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (30)    Tissues (15)    Images (13)
Theiler Stages: 15, 17, 20, 22, 26, 28
Assay TypeResults
RNA in situ 13
RT-PCR 17
cDNA source data(19)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(22) cDNA(19) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000038403 (Evidence)
Entrez Gene69585 (Evidence)
UniGene171314
DFCITC1585009
DoTSDT.101342700, DT.526338, DT.60103249
NIA Mouse Gene IndexU003598
Consensus CDS ProjectCCDS51003.1
International Mouse Knockout Project StatusHfe2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 69585 NCBI Gene Model | MGI Sequence Detail 4032 C57BL/6J ±  kb
transcript NM_027126 RefSeq | MGI Sequence Detail 2021 Not Specified 
polypeptide Q7TQ32 UniProt | EBI | MGI Sequence Detail 420 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(6) UniProt(1)
Polymorphisms SNPs within 2kb(22 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009496 Repulsive guidance molecule, C-terminal
InterPro IPR010536 Repulsive guidance molecule, N-terminal
Protein Ontology PR:000008532 hemojuvelin
Graphical View of Protein Domain Structure
References (Earliest) J:18891 Ramamoorthy S, et al., Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta. Biochem J. 1994 Jun 15;300(Pt 3):893-900
(Latest) J:211331 Kautz L, et al., Identification of erythroferrone as an erythroid regulator of iron metabolism. Nat Genet. 2014 Jul;46(7):678-84
All references(60)
Disease annotation references (2)
Other
accession IDs
MGI:1914041, MGI:2139694, MGI:2139795

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory