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
Displaying entry 6 - 6 of 6 in total
GO Term Evidence Code PMID
BMP receptor activity
GO Hierarchy
KEGG BRITE Database
Orthology
K23100
Name
hemojuvelin
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 150 in total
DO ID Disease Name Source
DOID:0050328 congenital hypothyroidism
DOID:0050700 cardiomyopathy
DOID:0050908 myelodysplastic syndrome
DOID:0060870 isolated growth hormone deficiency
DOID:0060872 isolated growth hormone deficiency type II
DOID:0060873 isolated growth hormone deficiency type IA
DOID:0060874 isolated growth hormone deficiency type IB
DOID:0060875 isolated growth hormone deficiency type III
DOID:0070122 Meckel syndrome 8
DOID:0070123 congenital nongoitrous hypothyroidism 4
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000027 Azoospermia
HP:0000044 Hypogonadotropic hypogonadism
HP:0000135 Hypogonadism
HP:0000141 Amenorrhea
HP:0000789 Infertility
HP:0000802 Impotence
HP:0000819 Diabetes mellitus
HP:0000939 Osteoporosis
HP:0000953 Hyperpigmentation of the skin
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