Hemojuvelin

HJV
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4UI1
Identifiers
Aliases	HJV, HFE2, hemojuvelin BMP co-receptor, HFE2A, hemochromatosis type 2 (juvenile), JH, RGMC
External IDs	OMIM: 608374 MGI: 1916835 HomoloGene: 17060 GeneCards: HJV
Gene location (Human)
Chr.	Chromosome 1 (human)
End	146,036,746 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	96,436,526 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; quadriceps femoris muscle; ; vastus lateralis muscle; ; tibialis anterior muscle; ; deltoid muscle; ; biceps brachii; ; right lobe of liver; ; body of tongue; ; right ventricle; ; superior surface of tongue;
	Top expressed in
	interventricular septum; ; triceps brachii muscle; ; vastus lateralis muscle; ; temporal muscle; ; knee joint; ; sternocleidomastoid muscle; ; skeletal muscle tissue; ; digastric muscle; ; ankle; ; ocular muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	coreceptor activity; BMP binding; protein binding; BMP receptor activity; transferrin receptor binding; signaling 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 by RNA polymerase II; BMP signaling pathway; negative regulation of BMP signaling pathway; positive regulation of transcription by RNA polymerase II; activin receptor signaling pathway; cellular iron ion homeostasis;
	Sources:Amigo / QuickGO
Orthologs
	148738
	69585
	ENSG00000168509
	ENSMUSG00000038403
	Q6ZVN8
	Q7TQ32
NM_145277; NM_202004; NM_213652; NM_213653; NM_001316767;
	NM_001379352
	NM_027126
NP_001303696; NP_660320; NP_973733; NP_998817; NP_998818;
	NP_001366281
	NP_081402
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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