SKI (SKI proto-oncogene)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6497
Gene name Gene Name - the full gene name approved by the HGNC.
SKI proto-oncogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SKI
Synonyms (NCBI Gene) Gene synonyms aliases
SGS, SKV
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33-p36.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 200
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
SNP ID Visualize variation Clinical significance Consequence
rs149642284 C>T Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign Synonymous variant, genic upstream transcript variant, coding sequence variant
rs370921440 C>T Benign-likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs372950890 C>G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs387907303 G>A Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs387907304 C>G,T Pathogenic Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1434)
miRTarBase ID miRNA Experiments Reference
MIRT004390 hsa-miR-195-5p Microarray, Northern blot 16331254
MIRT005885 hsa-miR-155-5p Immunohistochemistry, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 21062812
MIRT005885 hsa-miR-155-5p Immunohistochemistry, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 21062812
MIRT005885 hsa-miR-155-5p Luciferase reporter assay 21466664
MIRT016163 hsa-miR-590-3p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(71)
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 17469184
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 12435627
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
164780 10896 ENSG00000157933
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P12755
Protein name Ski oncogene (Proto-oncogene c-Ski)
Protein function May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.
PDB 1MR1 , 1SBX , 5XOD , 6ZVQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02437 Ski_Sno 84 → 191 SKI/SNO/DAC family Family
PF08782 c-SKI_SMAD_bind 217 → 311 c-SKI Smad4 binding domain Domain
Sequence 
MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAV
PAPVPAATEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKR
LCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKT
DAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECFGKCKGLLVPELYSSP
SAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARL
GRCLDDVKEKFDYGNKYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLA
GSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVA
LAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDS
EAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEA
ELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKE
KLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGCEAGRLR
AKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGS
EGAAELEP
Sequence length 728
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  TGF-beta signaling pathway   Signaling by BMP
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)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Shprintzen-Goldberg Syndrome shprintzen-goldberg syndrome rs397514590, rs869312902, rs387907303, rs869312901, rs387907304, rs1060502671, rs387907305, rs1553189986, rs387907306, rs1557806222, rs1569656981, rs398122889, rs398122914, rs397514589 N/A
Thoracic Aortic Aneurysm And Aortic Dissection familial thoracic aortic aneurysm and aortic dissection rs397514590 N/A
Show/Hide Unknown Diseases (9)
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
autism spectrum disorder Autism spectrum disorder N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (47)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Stimulate 19096149
Anemia Macrocytic Associate 30249787
Anophthalmos Associate 19112531
Attention Deficit Disorder with Hyperactivity Associate 27217153
Barrett Esophagus Associate 31746363
Brain Neoplasms Associate 37598220
Breast Neoplasms Inhibit 25670202
Carcinogenesis Associate 19096149, 31746363
Cardiomyopathies Associate 24454898
Cardiovascular Abnormalities Associate 24454898