ENSMUSG00000038403


Mus musculus

Features
Gene ID: ENSMUSG00000038403
  
Biological name :Hfe2
  
Synonyms : Hemojuvelin / Hfe2 / Q7TQ32
  
Possible biological names infered from orthology : hemochromatosis type 2 (juvenile) / Q6ZVN8
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: F2.1
Gene start: 96525172
Gene end: 96529210
  
Corresponding Affymetrix probe sets: 10494423 (MoGene1.0st)   1429223_a_at (Mouse Genome 430 2.0 Array)   1454137_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000046659
NCBI entrez gene - 69585     See in Manteia.
MGI - MGI:1916835
RefSeq - NM_027126
RefSeq - XM_006502037
RefSeq Peptide - NP_081402
swissprot - Q7TQ32
Ensembl - ENSMUSG00000038403
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hfe2ENSDARG00000030494Danio rerio
 HFE2ENSG00000168509Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rgma / Q6PCX7 / Repulsive guidance molecule A / Q96B86* / repulsive guidance molecule BMP co-receptor a*ENSMUSG0000007050945
Rgmb / Q7TQ33 / RGM domain family member B / Q6NW40* / repulsive guidance molecule BMP co-receptor b*ENSMUSG0000004802741


Protein motifs (from Interpro)
Interpro ID Name
 IPR009496  Repulsive guidance molecule, C-terminal
 IPR010536  Repulsive guidance molecule, N-terminal
 IPR016123  Mog1/PsbP, alpha/beta/alpha sandwich
 IPR033606  Hemojuvelin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0006879 cellular iron ion homeostasis IMP
 biological_processGO:0016540 protein autoprocessing IEA
 biological_processGO:0030509 BMP signaling pathway ISO
 biological_processGO:0030514 negative regulation of BMP signaling pathway IGI
 biological_processGO:0032924 activin receptor signaling pathway IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0055072 iron ion homeostasis IGI
 biological_processGO:0071773 cellular response to BMP stimulus IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031225 anchored component of membrane IEA
 cellular_componentGO:0070724 BMP receptor complex IEA
 cellular_componentGO:0098797 plasma membrane protein complex IEA
 cellular_componentGO:1990712 HFE-transferrin receptor complex ISO
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0015026 coreceptor activity ISO
 molecular_functionGO:0036122 BMP binding IPI
 molecular_functionGO:0098821 BMP receptor activity IEA
 molecular_functionGO:1990459 transferrin receptor binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001770 abnormal iron level "anomalous concentrations of this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pax3Sp-4H/Pax3+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Bidtm1Sjk/Bidtm1Sjk,Gdnftm1Rosl/Gdnf+
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0002446 abnormal macrophage morphology "anomalous structure, number, or composition of the large mononuclear phagocytic cells found in most tissues of the body" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Kpan/Hfe2tm1Kpan,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002590 increased mean corpuscular volume "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Glycam1tm1.1(KOMP)Vlcg/Glycam1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Glycam1tm1.1(KOMP)Vlcg/Ucd

 MP:0002591 decreased mean corpuscular volume "less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0002608 increased hematocrit "greater than average percentage of a volume of a blood sample occupied by red blood cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Glycam1tm1.1(KOMP)Vlcg/Glycam1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Glycam1tm1.1(KOMP)Vlcg/Ucd

 MP:0002810 microcytic anemia "anemia in which the circulating erythrocyte corpuscular volume is smaller than normal" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0002875 decreased erythrocyte count "reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0005561 increased mean corpuscular hemoglobin "greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Glycam1tm1.1(KOMP)Vlcg/Glycam1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Glycam1tm1.1(KOMP)Vlcg/Ucd

 MP:0005564 increased hemoglobin content "increase in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
Show

Allelic Composition: Glycam1tm1.1(KOMP)Vlcg/Glycam1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Glycam1tm1.1(KOMP)Vlcg/Ucd

 MP:0005637 abnormal iron homeostasis "anomaly in the state of equilibrium in the body with respect to this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:64456]
Show

Allelic Composition: Pax3Sp-4H/Pax3+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Hfe2tm1Arbr/Hfe2tm1Arbr
Genetic Background: involves: 129S4 * 129X1/SvJ

Allelic Composition: Hfe2tm1Kpan/Hfe2tm1Kpan,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0005638 hemochromatosis "disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:64456]
Show

Allelic Composition: Pax3Sp-4H/Pax3+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Hfe2tm1Arbr/Hfe2tm1Arbr
Genetic Background: involves: 129S4 * 129X1/SvJ

Allelic Composition: Hfe2tm1Kpan/Hfe2tm1Kpan,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0005642 decreased mean corpuscular hemoglobin concentration "less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:8936]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0008743 decreased liver iron level "reduction in the amount of iron present in the liver tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0008807 increased liver iron level "increase in the amount of iron present in the liver tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pax3Sp-4H/Pax3+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Hfe2tm1Arbr/Hfe2tm1Arbr
Genetic Background: involves: 129S4 * 129X1/SvJ

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Kpan/Hfe2tm1Kpan,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0008808 decreased spleen iron level "reduction in the amount of iron present in the spleen tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax3Sp-4H/Pax3+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Hfe2tm1Arbr/Hfe2tm1Arbr
Genetic Background: involves: 129S4 * 129X1/SvJ

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Nca/Hfe2tm1Nca,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hfe2tm1Kpan/Hfe2tm1Kpan,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0008810 increased circulating iron level "elevation in the concentration of iron in the blood" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pax3Sp-4H/Pax3+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Hfe2tm1Kpan/Hfe2tm1Kpan,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0010067 increased red blood cell distribution width "higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", NCI:C64800 "NCI Thesaurus (Code C64800)"]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0010375 increased kidney iron level "increase in the amount of iron present in the renal tissue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax3Sp-4H/Pax3+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0011275 abnormal behavioral response to light "unexpected change in the activity of an organism (in terms of movement, outward responses) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light" [GO:0009416, MGI:llw2]
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Allelic Composition: Glycam1tm1.1(KOMP)Vlcg/Glycam1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Glycam1tm1.1(KOMP)Vlcg/Ucd

 MP:0011890 increased circulating ferritin level "elevated concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases" [MGI:csmith]
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Allelic Composition: Hfe2tm1Kpan/Hfe2tm1Kpan,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0011897 decreased circulating unsaturated transferrin level "reduction in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test" [MGI:csmith]
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Allelic Composition: Hfe2tm1Kpan/Hfe2tm1Kpan,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0013302 increased pancreas iron level "increase in the amount of iron present in the pancreas tissue" [MGI:mlaw]
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Allelic Composition: Hfe2tm1Arbr/Hfe2tm1Arbr
Genetic Background: involves: 129S4 * 129X1/SvJ

 MP:0013303 decreased pancreas iron level "reduction in the amount of iron present in the pancreas tissue" [MGI:mlaw]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0020367 increased heart iron level "increase in the amount of iron present in the heart tissue" [MGI:Anna]
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Allelic Composition: Hfe2tm1Arbr/Hfe2tm1Arbr
Genetic Background: involves: 129S4 * 129X1/SvJ

 MP:0020368 decreased heart iron level "reduction in the amount of iron present in the heart tissue" [MGI:Anna]
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Allelic Composition: Hfe2tm1Nca/Hfe2+,Tmprss6tm1Dgen/Tmprss6tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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