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 21 - 30 of 150 in total
DO ID Disease Name Source
DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia
DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia
DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia
DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia
DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia
DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia
DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia
DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia
DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia
DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia
The Human Phenotype Ontology
Displaying entries 11 - 20 of 31 in total
HPO ID HPO Term
HP:0001254 Lethargy
HP:0001324 Muscle weakness
HP:0001369 Arthritis
HP:0001394 Cirrhosis
HP:0001635 Congestive heart failure
HP:0001638 Cardiomyopathy
HP:0001644 Dilated cardiomyopathy
HP:0001744 Splenomegaly
HP:0002240 Hepatomegaly
HP:0002612 Congenital hepatic fibrosis
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79230
  • hemochromatosis type 2
OMIM:602390
  • hemochromatosis type 2A

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024