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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
Gene Name
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
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 2519   (req: < 5)
Gene RIFs: 504   (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: 2519   (req: >= 5)
Gene RIFs: 504   (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
GWAS Traits (43)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
iron biomarker measurement
7
2
7
5
99.5
hemoglobin measurement
4
3
4
96.8
hematocrit
4
3
4
95.7
low density lipoprotein cholesterol measurement
5
2
6
95.5
transferrin saturation measurement
2
2
2
95.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
iron biomarker measurement
7
5
99.5
hemoglobin measurement
4
96.8
hematocrit
4
95.7
low density lipoprotein cholesterol measurement
6
95.5
transferrin saturation measurement
2
95.4
Orthologs (7)
1 – 5 of 7
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
homeostatic iron regulator
VGNC:2860
462489
Macaque
hemochromatosis
696129
Mouse
MGI:109191
15216
Rat
RGD:2793
29199
Dog
homeostatic iron regulator
VGNC:41671
100688951
Species
Name
OMA
EggNOG
Inparanoid
Chimp
homeostatic iron regulator
Macaque
hemochromatosis
Mouse
Rat
Dog
homeostatic iron regulator
Protein Structure (3 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q30201-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (232)
Iron uptake and transport (R-HSA-917937)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Iron uptake and transport
Reactome
Transferrin endocytosis and recycling
Reactome
Transport of small molecules
Name
Explore in Pharos
Explore in Source
Iron uptake and transport
Transferrin endocytosis and recycling
Transport of small molecules
Gene Ontology Terms (56)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Protein-Protein Interactions (324)
1 – 10 of 324
SMPDL3B
Tbio
Family: Enzyme
Novelty: 0.06579624
p_int: 0.999994752
p_ni: 0.000005211
p_wrong: 3.7e-8
Data Source: BioPlex
TAPBP
Tbio
Novelty: 0.00328098
p_int: 0.999987165
p_ni: 0.000010476
p_wrong: 0.00000236
Score: 0.288
Data Source: BioPlex,STRINGDB
FUT4
Tbio
Family: Enzyme
Novelty: 0.00060869
p_int: 0.999986502
p_ni: 0.000011231
p_wrong: 0.000002267
Data Source: BioPlex
NMU
Tbio
Novelty: 0.00326109
p_int: 0.999964668
p_ni: 0.000035273
p_wrong: 5.9e-8
Data Source: BioPlex
RNF128
Tbio
Family: Enzyme
Novelty: 0.10712495
p_int: 0.999631169
p_ni: 0.000053894
p_wrong: 0.000314937
Data Source: BioPlex
UGT3A2
Tbio
Family: Enzyme
Novelty: 0.35904542
p_int: 0.999575371
p_ni: 0.000256965
p_wrong: 0.000167664
Data Source: BioPlex
CD55
Tbio
Novelty: 0.0005689
p_int: 0.999359815
p_ni: 0.000638531
p_wrong: 0.000001654
Data Source: BioPlex
SLC27A6
Tbio
Family: Transporter
Novelty: 0.01120087
p_int: 0.998990306
p_ni: 0.001009694
Data Source: BioPlex
NECTIN3
Tbio
Novelty: 0.01288113
p_int: 0.998961812
p_ni: 0.001013807
p_wrong: 0.000024381
Data Source: BioPlex
ST6GALNAC4
Tbio
Family: Enzyme
Novelty: 0.08976097
p_int: 0.998795109
p_ni: 0.000599188
p_wrong: 0.000605703
Data Source: BioPlex
Publication Statistics
PubMed Score  2519.00

PubMed score by year
PubTator Score  1740.3

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