Hemojuvelin

HFE2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4UI1
Identifiers
Aliases	HFE2, HFE2A, HJV, JH, RGMC, hemochromatosis type 2 (juvenile)
External IDs	OMIM: 608374 MGI: 1916835 HomoloGene: 17060 GeneCards: HFE2
Gene ontology Molecular function • coreceptor activity • glycoprotein binding • BMP binding • protein binding • BMP receptor activity • transferrin receptor binding • receptor binding Cellular component • membrane • plasma membrane • cell surface • plasma membrane protein complex • BMP receptor complex • anchored component of membrane • HFE-transferrin receptor complex • extracellular space Biological process • iron ion homeostasis • cellular response to BMP stimulus • protein autoprocessing • negative regulation of transcription from RNA polymerase II promoter • BMP signaling pathway • negative regulation of BMP signaling pathway • positive regulation of transcription from RNA polymerase II promoter • activin receptor signaling pathway • cellular iron ion homeostasis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	148738	69585
Ensembl	ENSG00000168509	ENSMUSG00000038403
UniProt	Q6ZVN8	Q7TQ32
RefSeq (mRNA)	NM_145277 NM_202004 NM_213652 NM_213653 NM_001316767	NM_027126
RefSeq (protein)	NP_001303696 NP_660320 NP_973733 NP_998817 NP_998818	NP_081402.3 NP_081402
Location (UCSC)	Chr 1: 146.02 – 146.02 Mb	Chr 3: 96.53 – 96.53 Mb
PubMed search

4UI1

148738

69585

ENSG00000168509

ENSMUSG00000038403

Q6ZVN8

Q7TQ32

NM_145277
NM_202004
NM_213652
NM_213653
NM_001316767

NM_027126

NP_001303696
NP_660320
NP_973733
NP_998817
NP_998818

NP_081402.3
NP_081402

Hemojuvelin (HJV), also known as repulsive guidance molecule C (RGMc) or hemochromatosis type 2 protein (HFE2), is a membrane-bound and soluble protein in mammals that is responsible for the iron overload condition known as juvenile hemochromatosis in humans, a severe form of hemochromatosis. In humans, the hemojuvelin protein is encoded by the HFE2 gene. Hemojuvelin is a member of the repulsive guidance molecule family of proteins. Both RGMa and RGMb are found in the nervous system, while hemojuvelin is found in skeletal muscle and the liver.

...
Wikipedia