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; chr1:145413191-145417545 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HFE2

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (13 annotations)

Process	BMP signaling pathway, iron ion homeostasis, ...
Component	anchored to 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 Type	Results
RNA in situ	13
RT-PCR	17

cDNA source data(19)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Hfe2

Sequences

Length	Strain/Species
genomic	69585	NCBI Gene Model | MGI Sequence Detail	4032	C57BL/6J
transcript	NM_027126	RefSeq | MGI Sequence Detail	2021	Not Specified
polypeptide	Q7TQ32	UniProt | EBI | MGI Sequence Detail	420	Not Applicable

All sequences(22) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(15 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:193218 Vujic Spasic M, et al., Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload. Biochim Biophys Acta. 2013 Jan;1832(1):76-84
All references(57)

Other accession IDs

MGI:1914041, MGI:2139694, MGI:2139795