Gene table of SKI : SKI proto-oncogene

Gene-disease associations table

Disease IDDisease nameSource of annotation with SKIOMIM linkNumber of associated genesgenes
182212SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 2KIF1BP, SKI

Download the gene annotation in CSV format

Annotation of the gene SKI

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 a TF of the genes:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Generic Transcription PathwayR-HSA-2124363.86
Gene ExpressionR-HSA-741602.72
Signaling by TGF-beta Receptor ComplexR-HSA-1708346.81
Signaling by BMPR-HSA-2014518.46
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimerR-HSA-21737937.56
Downregulation of SMAD2/3:SMAD4 transcriptional activityR-HSA-21737958.46
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
ubiquitin-like protein ligase bindingGO:00443894.15
enzyme bindingGO:00198992.27
bindingGO:00054880.18
enzyme inhibitor activityGO:00048573.78
molecular function regulatorGO:00987722.51
repressing transcription factor bindingGO:00704915.71
cation bindingGO:00431691.4
transition metal ion bindingGO:00469142.48
transcription corepressor activityGO:00037144.33
transcription cofactor activityGO:00037123.44
histone deacetylase inhibitor activityGO:00468119.05
ion bindingGO:00431671.36
transcription factor activity, transcription factor bindingGO:00009893.36
transcription factor activity, protein bindingGO:00009883.35
metal ion bindingGO:00468721.41
transcription factor bindingGO:00081343.46
histone deacetylase regulator activityGO:00350338.64
enzyme regulator activityGO:00302342.85
SMAD bindingGO:00463325.45
kinase bindingGO:00199003.32
protein domain specific bindingGO:00199043.32
protein kinase bindingGO:00199013.44
ubiquitin protein ligase bindingGO:00316254.17
protein bindingGO:00055150.46
zinc ion bindingGO:00082702.66