Gene table of UBE2A : ubiquitin conjugating enzyme E2 A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with UBE2A	OMIM link	Number of associated genes	genes
PS309510	MENTAL RETARDATION, X-LINKED SYNDROMIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	27	AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6

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

KEGG pathway	KEGG ID	KEGG IC
Ubiquitin mediated proteolysis	hsa04120	5.63

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Class I MHC mediated antigen processing & presentation	R-HSA-983169	4.65
Antigen processing: Ubiquitination & Proteasome degradation	R-HSA-983168	5.19
Immune System	R-HSA-168256	2.37
Adaptive Immune System	R-HSA-1280218	3.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
ubiquitin-like protein transferase activity	GO:0019787	3.69
ubiquitin protein ligase activity	GO:0061630	4.47
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
ubiquitin-like protein conjugating enzyme activity	GO:0061650	6.37
ubiquitin-protein transferase activity	GO:0004842	3.73
ubiquitin conjugating enzyme activity	GO:0061631	6.41
ubiquitin-like protein ligase activity	GO:0061659	4.44
ubiquitin protein ligase binding	GO:0031625	4.17
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ubiquitin-like protein binding	GO:0032182	4.93
ubiquitin binding	GO:0043130	5.09
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19