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Ski Gene Detail
Summary
  • Symbol
    Ski
  • Name
    ski sarcoma viral oncogene homolog (avian)
  • Synonyms
    2310012I02Rik, 2610001A11Rik, MGC:8300
  • Feature Type
    protein coding gene
  • IDs
    MGI:98310
    NCBI Gene: 20481
  • Gene Overview
    MyGene.info: SKI
Location & Maps
more
  • Sequence Map
    Chr4:155154075-155222592 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68518 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 86.17 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    SKI, SKI proto-oncogene
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SKI, SKI proto-oncogene
    Orthology source: HGNC, HomoloGene
  • Synonyms
    SGS, SKV
  • Links
    NCBI Gene ID: 6497
    neXtProt AC: NX_P12755

  • Chr Location
    1p36.33; chr1:2228695-2310213 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SKI associations

Human Disease Mouse Models
       Shprintzen-Goldberg Craniosynostosis Syndrome; SGS   OMIM: 182212
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 1 allele in 2 genetic backgrounds
    8 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    64
  • Gene trapped
    60
  • Targeted
    3
  • Transgenic
    1
  • Incidental Mutations
Homozygous null embryos die during late gestation and exhibit neural tube defects, craniofacial anomalies, and reduced skeletal muscle mass. Haploinsufficient mice have an increased susceptibility to tumorigenesis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010598 VEGA Gene Model | MGI Sequence Detail 68518 C57BL/6J ±  kb
transcript OTTMUST00000024745 VEGA | MGI Sequence Detail 5522 Not Applicable  
polypeptide OTTMUSP00000011357 VEGA | MGI Sequence Detail 727 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    573 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 27
    Genomic 3
    cDNA 23
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-14428, MGI:1915543, MGI:1916864, MGI:2136877, MGI:2140114, MGI:2140167
References
more
  • Summaries
    All 67
    Developmental Gene Expression 9
    Gene Ontology 17
    Phenotypes 19
  • Earliest
    J:9932 Nomura N, et al., Isolation of human cDNA clones of ski and the ski-related gene, sno. Nucleic Acids Res. 1989 Jul 25;17(14):5489-500
  • Latest
    J:230652 Harb K, et al., Area-specific development of distinct projection neuron subclasses is regulated by postnatal epigenetic modifications. Elife. 2016;5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory