SKIL (SKI like proto-oncogene)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(915)
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SMAD4 Unknown 22674574
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 10531062
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
165340 10897 ENSG00000136603
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
QQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFP
QNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAP
QTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSG
KRNQSKTDAPSGMELQSWYPVIKQEGDHVSQTHSFLHPSYYLYMCDKVVAPNVSLTSAVS
QSKELTKTEASKSISRQSEKAHSSGKLQKTVSYPDVSLEEQEKMDLKTSRELCSRLDASI
SNNSTSKRKSESATCNLVRDINKVGIGLVAAASSPLLVKDVICEDDKGKIMEEVMRTYLK
QQEKLNLILQKKQQLQMEVKMLSSSKSMKELTEEQQNLQKELESLQNEHAQRMEEFYVEQ
KDLEKKLEQIMKQKCTCDSNLEKDKEAEYAGQLAELRQRLDHAEADRQELQDELRQEREA
RQKLEMMIKELKLQILKSSKTAKE
Sequence length 684
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells 		  Downregulation of SMAD2/3:SMAD4 transcriptional activity
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)		 23590892
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (31)
Associations from Text Mining
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