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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
Gene Name
Ensembl ID
  • ENST00000336751
  • ENSP00000337014
  • ENSG00000168509
  • ENST00000357836
  • ENSP00000350495
  • ENST00000475797
  • ENSP00000425716
  • ENST00000497365
  • ENSP00000421820
  • ENST00000636675
  • ENSP00000490072

Symbol
  • HFE2
  • RGMC
  • JH
  • HFE2
  • RGMC
  • HFE2A
Illumination Graph
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


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: 191.42   (req: < 5)
Gene RIFs: 63   (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: 191.42   (req: >= 5)
Gene RIFs: 63   (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
Protein Data Bank (1)
1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Gene Ontology Terms (20)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Protein-Protein Interactions (85)
1 – 10 of 85
BMP2
Tbio
Novelty: 0.00016974
Score: 0.995
Data Source: STRINGDB
NEO1
Tbio
Novelty: 0.00625858
Score: 0.993
Data Source: Reactome,STRINGDB
TFR2
Tbio
Family: Enzyme
Novelty: 0.00480264
Score: 0.988
Data Source: STRINGDB
HFE
Tbio
Novelty: 0.00042077
Score: 0.986
Data Source: STRINGDB
HAMP
Tbio
Novelty: 0.00035828
Score: 0.969
Data Source: STRINGDB
TMPRSS6
Tchem
Family: Enzyme
Novelty: 0.00739906
Score: 0.96
Data Source: STRINGDB
BMP4
Tchem
Novelty: 0.00047387
Score: 0.958
Data Source: STRINGDB
BMPR1A
Tchem
Family: Kinase
Novelty: 0.00343928
Score: 0.954
Data Source: STRINGDB
BMPR2
Tchem
Family: Kinase
Novelty: 0.00155912
Score: 0.94
Data Source: STRINGDB
SMAD5
Tbio
Family: TF
Novelty: 0.00405952
Score: 0.94
Data Source: STRINGDB
Publication Statistics
PubMed Score  191.42

PubMed score by year
PubTator Score  131.7

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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