Tbio HJV Hemojuvelin

Protein Summary

Description

Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis. The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]

Uniprot Accession IDs

• Q6ZVN8
• B1ALI7
• Q2PQ63
• Q6IMF6
• Q8NAH2
• Q8WVJ5

Gene Name

• HJV

Ensembl ID

• ENST00000336751
• ENSP00000337014
• ENSG00000168509
• ENST00000357836
• ENSP00000350495
• ENST00000475797
• ENSP00000425716
• ENST00000497365
• ENSP00000421820
• ENST00000636675
• ENSP00000490072

Symbol

• HFE2
• RGMC
• JH
• HFE2
• RGMC
• HFE2A

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	0.76
biological term	0.64
transcription factor	0.58
tissue sample	0.52
biological process	0.46

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 204.88   (req: < 5)

Gene RIFs: 69   (req: <= 3)

Antibodies: 386   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 204.88   (req: >= 5)

Gene RIFs: 69   (req: > 3)

Antibodies: 386   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0