Aliases for SKOR2 Gene

Aliases for SKOR2 Gene

  • SKI Family Transcriptional Corepressor 2 2 3 4 5
  • Functional Smad-Suppressing Element On Chromosome 18 3 4
  • Ladybird Homeobox Corepressor 1-Like Protein 3 4
  • Functional Smad Suppressing Element 18 2 3
  • LBX1 Corepressor 1-Like Protein 3 4
  • Fussel-18 3 4
  • FUSSEL18 3 4
  • CORL2 3 4
  • CH18515 3

External Ids for SKOR2 Gene

Previous GeneCards Identifiers for SKOR2 Gene

  • GC18M044729

Summaries for SKOR2 Gene

GeneCards Summary for SKOR2 Gene

SKOR2 (SKI Family Transcriptional Corepressor 2) is a Protein Coding gene. Diseases associated with SKOR2 include Acute Laryngitis. Gene Ontology (GO) annotations related to this gene include transcription corepressor activity and SMAD binding. An important paralog of this gene is SKOR1.

UniProtKB/Swiss-Prot Summary for SKOR2 Gene

  • Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system.

Additional gene information for SKOR2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SKOR2 Gene

Genomics for SKOR2 Gene

GeneHancer (GH) Regulatory Elements for SKOR2 Gene

Promoters and enhancers for SKOR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J047251 Promoter/Enhancer 1.1 EPDnew Ensembl 500.7 -0.2 -191 0.7 RBAK JUND ZNF639 ZBTB5 ZIC2 ZBTB26 ATF2 EZH2 CREB1 ZBTB17 SKOR2 IER3IP1 SMAD2 HDHD2 MIR4527HG lnc-SKOR2-1
GH18J047243 Enhancer 0.8 VISTA UCNEbase 0.4 +7.2 7196 1 EP300 ZNF530 EZH2 POLR2A ENSG00000267724 HDHD2 PIAS2 SKOR2 RNU6-1131P RF00026-486
GH18J047235 Enhancer 0.4 FANTOM5 0.4 +15.8 15816 0 ZNF16 KDM1A RF00026-486 RNU6-1131P KATNAL2 PIAS2 SKOR2
GH18J047204 Enhancer 0.3 Ensembl 0.3 +44.6 44602 1.2 EZH2 IER3IP1 RNU6-1131P piR-48369-073 RF00026-486 SKOR2
GH18J047209 Enhancer 0.2 Ensembl 0.3 +41.6 41602 0.4 HDHD2 RNU6-1131P RF00026-486 piR-48369-073 SKOR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SKOR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SKOR2

Genomic Locations for SKOR2 Gene

Genomic Locations for SKOR2 Gene
chr18:47,206,203-47,251,603
(GRCh38/hg38)
Size:
45,401 bases
Orientation:
Minus strand
chr18:44,728,874-44,775,554
(GRCh37/hg19)
Size:
46,681 bases
Orientation:
Minus strand

Genomic View for SKOR2 Gene

Genes around SKOR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SKOR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SKOR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SKOR2 Gene

Proteins for SKOR2 Gene

  • Protein details for SKOR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2VWA4-SKOR2_HUMAN
    Recommended name:
    SKI family transcriptional corepressor 2
    Protein Accession:
    Q2VWA4

    Protein attributes for SKOR2 Gene

    Size:
    1001 amino acids
    Molecular mass:
    104235 Da
    Quaternary structure:
    • Interacts with SMAD2 and SMAD3.

    Alternative splice isoforms for SKOR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SKOR2 Gene

Post-translational modifications for SKOR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SKOR2 Gene

No data available for DME Specific Peptides for SKOR2 Gene

Domains & Families for SKOR2 Gene

Gene Families for SKOR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SKOR2 Gene

Suggested Antigen Peptide Sequences for SKOR2 Gene

GenScript: Design optimal peptide antigens:
  • Ladybird homeobox corepressor 1-like protein (SKOR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2VWA4

UniProtKB/Swiss-Prot:

SKOR2_HUMAN :
  • Belongs to the SKI family.
Family:
  • Belongs to the SKI family.
genes like me logo Genes that share domains with SKOR2: view

Function for SKOR2 Gene

Molecular function for SKOR2 Gene

UniProtKB/Swiss-Prot Function:
Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system.

Phenotypes From GWAS Catalog for SKOR2 Gene

Gene Ontology (GO) - Molecular Function for SKOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003682 chromatin binding IEA --
GO:0003714 transcription corepressor activity IEA,ISS --
GO:0042826 histone deacetylase binding IEA --
GO:0046332 SMAD binding IPI,IEA 16200078
genes like me logo Genes that share ontologies with SKOR2: view
genes like me logo Genes that share phenotypes with SKOR2: view

Animal Models for SKOR2 Gene

MGI Knock Outs for SKOR2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SKOR2 Gene

Localization for SKOR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SKOR2 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 SKOR2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for SKOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 16200078
GO:0005667 transcription factor complex IBA 21873635
GO:0005737 cytoplasm IDA,IEA 16200078
genes like me logo Genes that share ontologies with SKOR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SKOR2 Gene

Pathways & Interactions for SKOR2 Gene

PathCards logo

SuperPathways for SKOR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SKOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006355 regulation of transcription, DNA-templated NAS 16200078
GO:0021587 cerebellum morphogenesis IEA --
GO:0021702 cerebellar Purkinje cell differentiation IEA --
GO:0021936 regulation of cerebellar granule cell precursor proliferation IEA --
genes like me logo Genes that share ontologies with SKOR2: view

No data available for Pathways by source and SIGNOR curated interactions for SKOR2 Gene

Drugs & Compounds for SKOR2 Gene

No Compound Related Data Available

Transcripts for SKOR2 Gene

mRNA/cDNA for SKOR2 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SKOR2 Gene

No ASD Table

Relevant External Links for SKOR2 Gene

GeneLoc Exon Structure for
SKOR2

Expression for SKOR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SKOR2 Gene

mRNA differential expression in normal tissues according to GTEx for SKOR2 Gene

This gene is overexpressed in Testis (x26.0), Brain - Spinal cord (cervical c-1) (x9.9), Brain - Cerebellum (x9.1), and Brain - Hypothalamus (x5.3).

Protein differential expression in normal tissues from HIPED for SKOR2 Gene

This gene is overexpressed in Platelet (41.9), Peripheral blood mononuclear cells (13.9), and Adipocyte (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SKOR2 Gene



Protein tissue co-expression partners for SKOR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SKOR2

mRNA Expression by UniProt/SwissProt for SKOR2 Gene:

Q2VWA4-SKOR2_HUMAN
Tissue specificity: Expressed in cerebellum, spinal cord and testis. Isoform 2 is present in cerebellum (at protein level).
genes like me logo Genes that share expression patterns with SKOR2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SKOR2 Gene

Orthologs for SKOR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SKOR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SKOR2 31 30
  • 96.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SKOR2 31 30
  • 91.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SKOR2 31 30
  • 89.69 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Skor2 17 31 30
  • 85.5 (n)
rat
(Rattus norvegicus)
Mammalia Skor2 30
  • 85.5 (n)
oppossum
(Monodelphis domestica)
Mammalia SKOR2 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SKOR2 31
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SKOR2 31
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SKOR2 31
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11093 31
  • 31 (a)
OneToMany
Species where no ortholog for SKOR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SKOR2 Gene

ENSEMBL:
Gene Tree for SKOR2 (if available)
TreeFam:
Gene Tree for SKOR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SKOR2: view image

Paralogs for SKOR2 Gene

Paralogs for SKOR2 Gene

(1) SIMAP similar genes for SKOR2 Gene using alignment to 1 proteins:

  • SKOR2_HUMAN
genes like me logo Genes that share paralogs with SKOR2: view

Variants for SKOR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SKOR2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs7235231 - p.Phe947Cys

Additional dbSNP identifiers (rs#s) for SKOR2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SKOR2 Gene

Variant ID Type Subtype PubMed ID
dgv5916n54 CNV loss 21841781
esv22148 CNV loss 19812545
esv3642451 CNV gain 21293372
nsv1072798 CNV deletion 25765185
nsv1112726 CNV deletion 24896259
nsv510453 OTHER sequence alteration 20534489
nsv576820 CNV loss 21841781
nsv828226 CNV gain 20364138
nsv9629 CNV gain+loss 18304495

Variation tolerance for SKOR2 Gene

Gene Damage Index Score: 8.50; 85.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SKOR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SKOR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SKOR2 Gene

Disorders for SKOR2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SKOR2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute laryngitis
- elite association - COSMIC cancer census association via MalaCards
Search SKOR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SKOR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SKOR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SKOR2 Gene

Publications for SKOR2 Gene

  1. Cloning and functional characterization of a new Ski homolog, Fussel-18, specifically expressed in neuronal tissues. (PMID: 16200078) Arndt S … Bosserhoff AK (Laboratory investigation; a journal of technical methods and pathology 2005) 2 3 4 54
  2. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 41 54
  3. Identification of a novel transcriptional corepressor, Corl2, as a cerebellar Purkinje cell-selective marker. (PMID: 18522874) Minaki Y … Ono Y (Gene expression patterns : GEP 2008) 2 3 54
  4. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry JR … Ong KK (Nature 2014) 3 54
  5. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld CA … Koellinger PD (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 54

Products for SKOR2 Gene

Sources for SKOR2 Gene