Gene table of HFE2 : hemochromatosis type 2 (juvenile)

Gene-disease associations table

Disease IDDisease nameSource of annotation with HFE2OMIM linkNumber of associated genesgenes
PS235200HEMOCHROMATOSISClinVar, OMIM, HUMSAVAR link to OMIM 7TFR2, HAMP, FTH1, BMP2, HFE2, SLC40A1, HFE

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Annotation of the gene HFE2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Axon guidanceR-HSA-4224753.93
Developmental BiologyR-HSA-12667383.48
Netrin-1 signalingR-HSA-3737527.59
Associated GO terms for Molecular function
GO termGO IDGO IC
signaling receptor activityGO:00380232.49
cytokine bindingGO:00199555.21
molecular transducer activityGO:00600892.32
receptor activityGO:00048722.32
signal transducer activityGO:00048712.28
glycoprotein bindingGO:00019485.11
BMP bindingGO:00361227.54
transmembrane receptor protein serine/threonine kinase activityGO:00046756.91
protein serine/threonine kinase activityGO:00046743.64
transferase activityGO:00167401.95
BMP receptor activityGO:00988218.13
protein kinase activityGO:00046723.27
coreceptor activityGO:00150266.1
transferrin receptor bindingGO:19904597.66
kinase activityGO:00163012.93
catalytic activityGO:00038241.05
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
carbohydrate derivative bindingGO:00973672.03
transmembrane signaling receptor activityGO:00048882.57
protein bindingGO:00055150.46
receptor bindingGO:00051022.43
transmembrane receptor protein kinase activityGO:00191995.32
transmembrane receptor activityGO:00996002.53
bindingGO:00054880.18