Gene table of RAG2 : recombination activating 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with RAG2OMIM linkNumber of associated genesgenes
603554OMENN SYNDROMEOMIM, HUMSAVAR link to OMIM 3DCLRE1C, RAG2, RAG1
601457SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVEOMIM link to OMIM 2RAG2, RAG1
233650COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMASClinVar, OMIM, HUMSAVAR link to OMIM 2RAG2, RAG1

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Annotation of the gene RAG2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Primary immunodeficiencyhsa053407.52
FoxO signaling pathwayhsa040685.63
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
MAPK6/MAPK4 signalingR-HSA-56871286.54
MAPK family signaling cascadesR-HSA-56830574.89
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
histone bindingGO:00423934.72
methylated histone bindingGO:00350645.81
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
ion bindingGO:00431671.36
heterocyclic compound bindingGO:19013631.06
ubiquitin-like protein transferase activityGO:00197873.69
cation bindingGO:00431691.4
phosphatidylinositol-3,5-bisphosphate bindingGO:00800256.69
transition metal ion bindingGO:00469142.48
ubiquitin protein ligase activityGO:00616304.47
phospholipid bindingGO:00055433.91
phosphatidylinositol-4,5-bisphosphate bindingGO:00055465.81
phosphatidylinositol-3,4,5-trisphosphate bindingGO:00055476.21
phosphatidylinositol bisphosphate bindingGO:19029365.79
transferase activityGO:00167401.95
phosphatidylinositol-3,4-bisphosphate bindingGO:00433256.74
metal ion bindingGO:00468721.41
anion bindingGO:00431684.17
lipid bindingGO:00082893.26
catalytic activityGO:00038241.05
phosphatidylinositol phosphate bindingGO:19019815.05
ubiquitin-protein transferase activityGO:00048423.73
ubiquitin-like protein ligase activityGO:00616594.44
phosphatidylinositol bindingGO:00350914.47
organic cyclic compound bindingGO:00971591.05
protein bindingGO:00055150.46
chromatin bindingGO:00036823.64
zinc ion bindingGO:00082702.66