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 2009] See more...

Aliases for SKI Gene

Aliases for SKI Gene

  • SKI Proto-Oncogene 2 3 5
  • V-Ski Avian Sarcoma Viral Oncogene Homolog 2 3
  • Proto-Oncogene C-Ski 3 4
  • Ski Oncogene 3 4
  • Ski Oncoprotein 3
  • SGS 3
  • SKV 3

External Ids for SKI Gene

Previous GeneCards Identifiers for SKI Gene

  • GC01P001715
  • GC01P002173
  • GC01P9M0086
  • GC01P001435

Summaries for SKI Gene

Entrez Gene Summary for SKI 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 2009]

GeneCards Summary for SKI Gene

SKI (SKI Proto-Oncogene) is a Protein Coding gene. Diseases associated with SKI include Shprintzen-Goldberg Craniosynostosis Syndrome and Chromosome 1P36 Deletion Syndrome. Among its related pathways are Signaling by BMP and TGF-beta Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include chromatin binding and ubiquitin protein ligase binding. An important paralog of this gene is SKIL.

UniProtKB/Swiss-Prot Summary for SKI Gene

  • 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.

Gene Wiki entry for SKI Gene

Additional gene information for SKI Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SKI Gene

Genomics for SKI Gene

GeneHancer (GH) Regulatory Elements for SKI Gene

Promoters and enhancers for SKI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SKI on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SKI gene promoter:
  • AML1a
  • AP-2gamma
  • c-Ets-1
  • c-Myb
  • E47
  • GATA-1
  • Hand1
  • HSF2
  • LUN-1
  • MIF-1

Genomic Locations for SKI Gene

Genomic Locations for SKI Gene
81,895 bases
Plus strand
81,519 bases
Plus strand

Genomic View for SKI Gene

Genes around SKI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SKI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SKI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SKI Gene

Proteins for SKI Gene

  • Protein details for SKI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ski oncogene
    Protein Accession:
    Secondary Accessions:
    • Q5SYT7

    Protein attributes for SKI Gene

    728 amino acids
    Molecular mass:
    80005 Da
    Quaternary structure:
    • Interacts with SMAD2, SMAD3 and SMAD4. Interacts with HIPK2. Part of a complex with HIPK2 and SMAD1/2/3. Interacts with PRDM16 and SMAD3; the interaction with PRDM16 promotes the recruitment SMAD3-HDAC1 complex on the promoter of TGF-beta target genes.

    Three dimensional structures from OCA and Proteopedia for SKI Gene

neXtProt entry for SKI Gene

Post-translational modifications for SKI Gene

  • Ubiquitinated by RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SKI Gene

No data available for DME Specific Peptides for SKI Gene

Domains & Families for SKI Gene

Gene Families for SKI Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SKI Gene

GenScript: Design optimal peptide antigens:
  • Ski oncoprotein (Q7Z459_HUMAN)
  • Ski oncoprotein (Q7Z461_HUMAN)
  • Ski oncoprotein (Q7Z462_HUMAN)
  • Proto-oncogene c-Ski (SKI_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SKI family.
  • Belongs to the SKI family.
genes like me logo Genes that share domains with SKI: view

Function for SKI Gene

Molecular function for SKI Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
avian sarcoma viral (v-ski) oncogene homolog

Phenotypes From GWAS Catalog for SKI Gene

Gene Ontology (GO) - Molecular Function for SKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003714 transcription corepressor activity IMP 12435627
GO:0005515 protein binding IPI 8514802
GO:0008270 zinc ion binding IDA 12419246
GO:0019901 protein kinase binding IPI 12874272
genes like me logo Genes that share ontologies with SKI: view
genes like me logo Genes that share phenotypes with SKI: view

Human Phenotype Ontology for SKI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SKI Gene

MGI Knock Outs for SKI:
  • Ski Ski<tm1Cco>

Animal Model Products

CRISPR Products

miRNA for SKI Gene

miRTarBase miRNAs that target SKI

Clone Products

  • Addgene plasmids for SKI

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SKI Gene

Localization for SKI Gene

Subcellular locations from UniProtKB/Swiss-Prot for SKI Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SKI gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17054724
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex ISS --
GO:0005737 cytoplasm ISS --
GO:0005813 centrosome IDA 21600873
genes like me logo Genes that share ontologies with SKI: view

Pathways & Interactions for SKI Gene

genes like me logo Genes that share pathways with SKI: view

SIGNOR curated interactions for SKI Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS --
GO:0001843 neural tube closure ISS --
GO:0002089 lens morphogenesis in camera-type eye ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway NAS 14583455
genes like me logo Genes that share ontologies with SKI: view

Drugs & Compounds for SKI Gene

(2) Drugs for SKI Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SKI Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SKI: view

Transcripts for SKI Gene

mRNA/cDNA for SKI Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(121) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SKI

Alternative Splicing Database (ASD) splice patterns (SP) for SKI Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b
SP1: -

Relevant External Links for SKI Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SKI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SKI Gene

Protein differential expression in normal tissues from HIPED for SKI Gene

This gene is overexpressed in Thyroid (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SKI Gene

Protein tissue co-expression partners for SKI Gene

NURSA nuclear receptor signaling pathways regulating expression of SKI Gene:


SOURCE GeneReport for Unigene cluster for SKI Gene:


Evidence on tissue expression from TISSUES for SKI Gene

  • Skin(2.3)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SKI Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • thyroid
  • tooth
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SKI: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SKI Gene

Orthologs for SKI Gene

This gene was present in the common ancestor of animals.

Orthologs for SKI Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SKI 33
  • 100 (a)
(Canis familiaris)
Mammalia SKI 33 32
  • 89.81 (n)
(Bos Taurus)
Mammalia SKI 33 32
  • 89.58 (n)
(Mus musculus)
Mammalia Ski 17 33 32
  • 88.81 (n)
(Rattus norvegicus)
Mammalia Ski 32
  • 88.76 (n)
(Monodelphis domestica)
Mammalia SKI 33
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia SKI 33
  • 69 (a)
(Gallus gallus)
Aves SKI 33 32
  • 75.38 (n)
(Anolis carolinensis)
Reptilia SKI 33
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ski 32
  • 74.06 (n)
Str.1843 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.102 32
(Danio rerio)
Actinopterygii skia 33 32 32
  • 71.48 (n)
skib 33
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7233 34
  • 48 (a)
Snoo 33
  • 18 (a)
Species where no ortholog for SKI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SKI Gene

Gene Tree for SKI (if available)
Gene Tree for SKI (if available)
Evolutionary constrained regions (ECRs) for SKI: view image

Paralogs for SKI Gene

Paralogs for SKI Gene

(3) SIMAP similar genes for SKI Gene using alignment to 4 proteins:

  • Q7Z459_HUMAN
  • Q7Z461_HUMAN
  • Q7Z462_HUMAN
genes like me logo Genes that share paralogs with SKI: view

Variants for SKI Gene

Sequence variations from dbSNP and Humsavar for SKI Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1002513362 likely-benign, Shprintzen-Goldberg syndrome 2,306,112(+) C/T coding_sequence_variant, synonymous_variant
rs1021794039 uncertain-significance, Shprintzen-Goldberg syndrome 2,306,639(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs1038237858 uncertain-significance, Shprintzen-Goldberg syndrome 2,303,312(+) C/T coding_sequence_variant, missense_variant
rs1040803635 likely-benign, Shprintzen-Goldberg syndrome, not provided 2,306,591(+) G/A coding_sequence_variant, synonymous_variant
rs1043627749 likely-benign, not specified, Cardiovascular phenotype 2,228,913(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SKI Gene

Variant ID Type Subtype PubMed ID
dgv48n54 CNV loss 21841781
dgv49n54 CNV loss 21841781
dgv4n67 CNV gain 20364138
esv1025209 CNV deletion 17803354
esv1164473 CNV deletion 17803354
esv1252402 CNV deletion 17803354
esv1536883 CNV deletion 17803354
esv1682069 CNV deletion 17803354
esv22780 CNV gain+loss 19812545
esv2648351 CNV loss 19546169
esv2673961 CNV deletion 23128226
esv3585023 CNV loss 21293372
nsv461727 CNV loss 19166990
nsv463949 CNV loss 19166990
nsv465060 CNV loss 19166990
nsv470682 CNV loss 18288195
nsv4742 CNV insertion 18451855
nsv482937 CNV loss 15286789
nsv528621 CNV loss 19592680
nsv545067 CNV loss 21841781
nsv545068 CNV loss 21841781
nsv545069 CNV gain 21841781
nsv545070 CNV loss 21841781
nsv545071 CNV gain 21841781
nsv823031 CNV gain 20364138
nsv823364 CNV gain 20364138
nsv834557 CNV loss 17160897
nsv834668 CNV loss 17160897
nsv951530 CNV deletion 24416366
nsv951531 CNV deletion 24416366
nsv951557 CNV deletion 24416366

Variation tolerance for SKI Gene

Residual Variation Intolerance Score: 6.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SKI Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SKI Gene

Disorders for SKI Gene

MalaCards: The human disease database

(7) MalaCards diseases for SKI Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
shprintzen-goldberg craniosynostosis syndrome
  • sgs
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
lung sarcoma
  • pulmonary sarcoma
  • craniostenosis
persistent hyperplastic primary vitreous
  • congenital retinal detachment
- elite association - COSMIC cancer census association via MalaCards
Search SKI in MalaCards View complete list of genes associated with diseases


  • Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities. {ECO:0000269 PubMed:23023332, ECO:0000269 PubMed:23103230, ECO:0000269 PubMed:24357594, ECO:0000269 PubMed:24736733}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SKI

Genetic Association Database
Human Genome Epidemiology Navigator
Tumor Gene Database
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SKI: view

No data available for Genatlas for SKI Gene

Publications for SKI Gene

  1. SKI and MEL1 cooperate to inhibit transforming growth factor-beta signal in gastric cancer cells. (PMID: 19049980) Takahata M … Imamura T (The Journal of biological chemistry 2009) 3 4 23 56
  2. Isolation of human cDNA clones of ski and the ski-related gene, sno. (PMID: 2762147) Nomura N … Ishizaki R (Nucleic acids research 1989) 2 3 4 56
  3. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. (PMID: 24736733) Schepers D … Van Laer L (European journal of human genetics : EJHG 2015) 3 4 56
  4. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (PMID: 23103230) Carmignac V … Faivre L (American journal of human genetics 2012) 3 4 56
  5. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (PMID: 23023332) Doyle AJ … Dietz HC (Nature genetics 2012) 3 4 56

Products for SKI Gene

Sources for SKI Gene