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MGI:Hfe2

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Hfe2 ( synonyms: DL-M, hemojuvelin, HJV, Rgmc )
Protein Name(s) hemochromatosis type 2 (juvenile) (human homolog),
External Links
MGI MGI:1916835

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0005515

protein binding

MGI:MGI:3625588
PMID:16604073[1]

IPI: Inferred from Physical Interaction

UniProtKB:P21274
UniProtKB:P21275

F

From MGI

GO:0005615

extracellular space

MGI:MGI:3027667
PMID:14749425[2]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005886

plasma membrane

MGI:MGI:2154458

ISO: Inferred from Sequence Orthology

UniProtKB:Q6ZVN8

C

From MGI

GO:0009986

cell surface

MGI:MGI:3027667
PMID:14749425[2]

IDA: Inferred from Direct Assay

C

From MGI

GO:0015026

coreceptor activity

MGI:MGI:3625588
PMID:16604073[1]

IGI: Inferred from Genetic Interaction

MGI:MGI:88177

F

From MGI

GO:0016020

membrane

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0472

C

From MGI

GO:0016323

basolateral plasma membrane

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

NCBI:NP_001012080

C

From MGI

GO:0030509

BMP signaling pathway

MGI:MGI:3625588
PMID:16604073[1]

IGI: Inferred from Genetic Interaction

MGI:MGI:88177
MGI:MGI:1338938
MGI:MGI:107191
MGI:MGI:109452

P

From MGI

GO:0030509

BMP signaling pathway

MGI:MGI:3625588
PMID:16604073[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3587746

P

From MGI

GO:0031225

anchored to membrane

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0336

C

From MGI

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

MGI:MGI:3625588
PMID:16604073[1]

IGI: Inferred from Genetic Interaction

MGI:MGI:88177

P

From MGI

GO:0055072

iron ion homeostasis

MGI:MGI:2154458

ISO: Inferred from Sequence Orthology

UniProtKB:Q6ZVN8

P

From MGI

GO:0055072

iron ion homeostasis

MGI:MGI:3587447
PMID:16075058[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3587747

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. 1.0 1.1 1.2 1.3 1.4 Babitt JL et al. (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet 38: 531-9 PubMed GONUTS page
  2. 2.0 2.1 Niederkofler V et al. (2004) Repulsive guidance molecule (RGM) gene function is required for neural tube closure but not retinal topography in the mouse visual system. J Neurosci 24: 808-18 PubMed GONUTS page
  3. Niederkofler V et al. (2005) Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J Clin Invest 115: 2180-6 PubMed GONUTS page
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