hemojuvelin BMP co-receptor

Summary
Gene Symbol
  • HJV
Aliases
  • HFE2A
  • JH
  • RGMC
  • haemojuvelin
  • hemojuvelin
  • repulsive guidance molecule c
Organism
Homo sapiens (human)
NCBI Gene
148738
HGNC
4887
KEGG Gene ID
hsa:148738
PubChem
148738
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Autocatalytic cleavage
  • Cell membrane
  • Disease variant
  • Disulfide bond
  • GPI-anchor
  • Phosphoprotein
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q6ZVN8
  • Hemochromatosis type 2 protein
  • Hemojuvelin BMP coreceptor
  • RGM domain family member C
A8K466
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
repulsive guidance molecule
Functional Category
  • J: Translation, ribosomal structure and biogenesis
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
KEGG BRITE Database
Orthology
K23100
Name
hemojuvelin
References
Disease
The Human Phenotype Ontology
Displaying entries 21 - 30 of 31 in total
HPO ID HPO Term
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0003040 Arthropathy
HP:0003281 Increased circulating ferritin concentration
HP:0003452 Increased circulating iron concentration
HP:0003452 Increased serum iron
HP:0007440 Generalized hyperpigmentation
HP:0011031 Abnormality of iron homeostasis
HP:0011462 Young adult onset
HP:0011675 Arrhythmia
HP:0012093 Abnormality of endocrine pancreas physiology
Displaying all 2 entries
Disease ID Disease Name
OMIM:602390
  • hemochromatosis type 2A
ORPHA:79230
  • hemochromatosis type 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024