HJV (hemojuvelin BMP co-receptor)

2018-02-01 Affiliation

HGNC

HJV

LOCATION

1q21.1

LOCUSID

148738

ALIAS

HFE2,HFE2A,JH,RGMC

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

dbSNP: 148738
ClinVar: 148738
TCGA: ENSG00000168509
COSMIC: HJV

Pubmed ID	Year	Title	Citations
14647275	2004	Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.	232
17938254	2008	Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis.	97
15998830	2005	Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin.	92
18326817	2008	Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin.	86
19847924	2010	Detecting rare variants for complex traits using family and unrelated data.	79
22728873	2012	The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.	62
16103117	2005	Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells.	59
18421430	2008	A bone morphogenetic protein (BMP)-responsive element in the hepcidin promoter controls HFE2-mediated hepatic hepcidin expression and its response to IL-6 in cultured cells.	49
14982873	2004	Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.	43
17869549	2008	Soluble hemojuvelin is released by proprotein convertase-mediated cleavage at a conserved polybasic RNRR site.	40

Dessen P

HJV (hemojuvelin BMP co-receptor)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01