hemojuvelin BMP co-receptor

Summary
Gene Symbol
  • HJV
Aliases
  • HFE2A
  • JH
  • RGMC
  • haemojuvelin
  • hemojuvelin
  • repulsive guidance molecule c
Organism
Homo sapiens (human)
External Links
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
KEGG BRITE Database
Orthology
K23100
Name
hemojuvelin
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 150 in total
DO ID Disease Name Source
DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia
DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia
DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia
DOID:0090103 Huntington's disease-like 1
DOID:0090104 Huntington's disease-like 2
DOID:0110423 dilated cardiomyopathy 1C
DOID:0110424 dilated cardiomyopathy 1CC
DOID:0110426 dilated cardiomyopathy 1D
DOID:0110427 dilated cardiomyopathy 1V
DOID:0110428 dilated cardiomyopathy 1AA
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
ORPHA:79230
  • hemochromatosis type 2
OMIM:602390
  • hemochromatosis type 2A

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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: August 19, 2024