Tbio HFE Hereditary hemochromatosis protein

Protein Summary

Description

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q30201
• B2CKL0
• O75929
• O75930
• O75931
• Q17RT0
• Q96KU5
• Q96KU6
• Q96KU7
• Q96KU8
• Q9HC64
• Q9HC68
• Q9HC70
• Q9HC83

Gene Name

• HFE

Ensembl ID

• ENST00000317896
• ENSP00000313776
• ENSG00000010704
• ENST00000336625
• ENSP00000337819
• ENST00000349999
• ENSP00000259699
• ENST00000352392
• ENSP00000315936
• ENST00000353147
• ENSP00000312342
• ENST00000357618
• ENSP00000417404
• ENST00000397022
• ENSP00000380217
• ENST00000461397
• ENSP00000420802
• ENST00000488199
• ENSP00000420559

Symbol

• HLAH
• HH
• HFE1
• HLA-H
• MVCD7
• TFQTL2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	1
trait	1
biological process	0.97
protein domain	0.97
disease	0.93

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: 2804.9   (req: < 5)

Gene RIFs: 564   (req: <= 3)

Antibodies: 318   (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: 2804.9   (req: >= 5)

Gene RIFs: 564   (req: > 3)

Antibodies: 318   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 44

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