Gene table of ESCO2 : establishment of sister chromatid cohesion N-acetyltransferase 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with ESCO2OMIM linkNumber of associated genesgenes
268300ROBERTS SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1ESCO2
269000SC PHOCOMELIA SYNDROMEOMIM link to OMIM 1ESCO2

Download the gene annotation in CSV format

Annotation of the gene ESCO2

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
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Cell CycleR-HSA-16401703.89
S PhaseR-HSA-692426.02
Cell Cycle, MitoticR-HSA-692784.16
Establishment of Sister Chromatid CohesionR-HSA-24680529.52
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
N-acetyltransferase activityGO:00080805.27
acetyltransferase activityGO:00164075.1
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
transferase activity, transferring acyl groupsGO:00167464.2
bindingGO:00054880.18
N-acyltransferase activityGO:00164105.08
metal ion bindingGO:00468721.41
lysine N-acetyltransferase activity, acting on acetyl phosphate as donorGO:00044687.95
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37