Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
hereditary hemochromatosis
|
| gptkbp:clinicalTrialPhase |
genetic testing for hemochromatosis
|
| gptkbp:discoveredBy |
Feder et al.
|
| gptkbp:discoveredIn |
1996
|
| gptkbp:encodes |
gptkb:HFE_protein
|
| gptkbp:Entrez_Gene_ID |
3077
|
| gptkbp:expressedIn |
liver
intestine |
| gptkbp:fullName |
hemochromatosis gene
|
| gptkbp:function |
regulation of iron absorption
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
4886
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hfe
|
| gptkbp:interactsWith |
gptkb:transferrin_receptor_1
beta-2-microglobulin |
| gptkbp:length |
7 exons
|
| gptkbp:locatedOnChromosome |
gptkb:6p21.3
6 |
| gptkbp:mutationAssociatedWith |
C282Y
H63D S65C |
| gptkbp:OMIM |
613609
|
| gptkbp:orthologInMouse |
Hfe (mouse gene)
|
| gptkbp:proteinFamily |
MHC class I-like protein
|
| gptkbp:UniProtID |
Q30201
|
| gptkbp:bfsParent |
gptkb:HFE
|
| gptkbp:bfsLayer |
6
|