About   Help   FAQ
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 Ensembl 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: HFE2
Gene Tree: Hfe2

Human
homologs
HFE2, hemochromatosis type 2 (juvenile)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 148738
neXtProt AC: NX_Q6ZVN8

Human Synonyms: HFE2A, HJV, JH, RGMC

Human Chr (Location): 1q21.1; chr1:146017468-146021822 (-)  GRCh38.p2

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 in Mice Using Hfe2 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(2)
Interactions
Hfe2 interacts with 81 markers (Mir10b, Mir22, Mir29a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (37 annotations)
Process activin receptor signaling pathway, BMP signaling pathway, ...
Component anchored component of membrane, basolateral plasma membrane, ...
Function BMP binding, coreceptor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (30)    Tissues (17)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 13
RT-PCR 17
cDNA source data(19)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN hfe2    NEW 
Molecular
reagents
All nucleic(22) cDNA(19) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000038403 (Evidence)
Entrez Gene 69585 (Evidence)
UniGene 171314
DFCI TC1585009
DoTS DT.101342700, DT.526338, DT.60103249
NIA Mouse Gene Index U003598
Consensus CDS Project CCDS51003.1
International Mouse Phenotyping Consortium Status Hfe2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000038403 Ensembl Gene Model | MGI Sequence Detail 4032 C57BL/6J ±  kb
transcript ENSMUST00000049208 Ensembl | MGI Sequence Detail 2021 Not Applicable 
polypeptide ENSMUSP00000046659 Ensembl | 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
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:222266 Rausa M, et al., Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?. PLoS One. 2015;10(4):e0122696
All references(66)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/18/2015
MGI 6.0
The Jackson Laboratory