Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Hfe2. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Hfe2
  • is located in the following cellular components:
    • cell surface ^[2]
    • extracellular space ^[2]
• The gene product of Hfe2 has been shown to bind to the gene products of Bmp2, Bmp4. ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Hfe2
  • participates in the following biological processes:
    • BMP signaling pathway ^[1]
    • iron ion homeostasis ^[3]
• Researchers have inferred, based on genetic interactions, that the gene product of Hfe2
  • participates in the following biological processes:
    • BMP signaling pathway based on interactions with Bmp2, Bmpr1a, Bmpr1b, Smad1 ^[1]
    • positive regulation of transcription from RNA polymerase II promoter based on interactions with Bmp2 ^[1]
  • performs the following molecular functions:
    • coreceptor activity based on interactions with Bmp2 ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Hfe2:
  • participates in the following biological processes:
    • iron ion homeostasis
  • is located in the following cellular components:
    • basolateral plasma membrane
    • plasma membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Hfe2 indicates that it:
  • is located in the following cellular components:
    • anchored to membrane
    • membrane

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References

1. Babitt JL et al. (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet, 38:531-9. (PubMed:16604073)
2. 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:14749425)
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:16075058)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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