Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6498
Gene name Gene Name - the full gene name approved by the HGNC.
SKI like proto-oncogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SKIL
Synonyms (NCBI Gene) Gene synonyms aliases
SNO, SnoA, SnoI, SnoN
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-respons
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022626 hsa-miR-124-3p Microarray 18668037
MIRT029466 hsa-miR-26b-5p Microarray 19088304
MIRT046162 hsa-miR-30b-5p CLASH 23622248
MIRT699523 hsa-miR-376c-3p HITS-CLIP 23313552
MIRT699522 hsa-miR-3925-5p HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
SMAD4 Unknown 22674574
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10531062, 16966324, 17469184
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 10531062
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
165340 10897 ENSG00000136603
Protein
UniProt ID P12757
Protein name Ski-like protein (Ski-related oncogene) (Ski-related protein)
Protein function May have regulatory role in cell division or differentiation in response to extracellular signals.
PDB 3EQ5 , 5C4V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02437 Ski_Sno 128 235 SKI/SNO/DAC family Family
PF08782 c-SKI_SMAD_bind 261 355 c-SKI Smad4 binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform SNON and isoform SNOA are widely expressed. Highest expression is found in skeletal muscle, followed by placenta and lung. Lowest expression in heart, brain and pancreas. Isoform SNOI expression is restricted to skeletal muscle
Sequence
MENLQTNFSLVQGSTKKLNGMGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEA
PVETDGEHVKRTCTSVPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTV
FLPLPSPQVLPGPLLIPSDSSTELTQTVLEGESISCFQVGGEKRLCLPQVLNSVLREFTL
QQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLR
PRTFP
QNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAP
QTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKF
SMRSG
KRNQSKTDAPSGMELQSWYPVIKQEGDHVSQTHSFLHPSYYLYMCDKVVAPNVSLTSAVS
QSKELTKTEASKSISRQSEKAHSSGKLQKTVSYPDVSLEEQEKMDLKTSRELCSRLDASI
SNNSTSKRKSESATCNLVRDINKVGIGLVAAASSPLLVKDVICEDDKGKIMEEVMRTYLK
QQEKLNLILQKKQQLQMEVKMLSSSKSMKELTEEQQNLQKELESLQNEHAQRMEEFYVEQ
KDLEKKLEQIMKQKCTCDSNLEKDKEAEYAGQLAELRQRLDHAEADRQELQDELRQEREA
RQKLEMMIKELKLQILKSSKTAKE
Sequence length 684
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
  Downregulation of SMAD2/3:SMAD4 transcriptional activity
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Prostate cancer Prostate cancer (late onset), Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 28115165
Adenoma Stimulate 19096149
Anodontia Associate 17062133
Arthritis Rheumatoid Associate 17594488
Atherosclerosis Associate 36457109
Breast Neoplasms Associate 28493978
Carcinogenesis Associate 17062133, 19096149, 23418461
Carcinoma Hepatocellular Associate 28230858
Carcinoma Ovarian Epithelial Stimulate 19383336
Castleman Disease Associate 34686774