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    SKOR2 SKI family transcriptional corepressor 2 [ Homo sapiens (human) ]

    Gene ID: 652991, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SKOR2provided by HGNC
    Official Full Name
    SKI family transcriptional corepressor 2provided by HGNC
    Primary source
    HGNC:HGNC:32695
    See related
    Ensembl:ENSG00000215474 MIM:617138; AllianceGenome:HGNC:32695
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CORL2; CH18515; FUSSEL18
    Summary
    Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SKOR2 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (47206169..47251660, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (47396432..47441946, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44732540..44778031, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene small ubiquitin-related modifier 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44665671-44666170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13284 Neighboring gene haloacid dehalogenase like hydrolase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13286 Neighboring gene immediate early response 3 interacting protein 1 Neighboring gene Sharpr-MPRA regulatory region 3693 Neighboring gene RNA, U6 small nuclear 1131, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44777899-44778415 Neighboring gene uncharacterized LOC124904295 Neighboring gene MIR4527 host gene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44879682-44880328 Neighboring gene microRNA 4527

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas. Bennett KL, et al. Genes Chromosomes Cancer, 2010 Apr. PMID 20029986
    2. Cloning and functional characterization of a new Ski homolog, Fussel-18, specifically expressed in neuronal tissues. Arndt S, et al. Lab Invest, 2005 Nov. PMID 16200078
    3. Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. Castelo R, et al. Nucleic Acids Res, 2005. PMID 15809229, Free PMC Article
    4. Identification of a novel transcriptional corepressor, Corl2, as a cerebellar Purkinje cell-selective marker. Minaki Y, et al. Gene Expr Patterns, 2008 Jul. PMID 18522874
    5. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Elks CE, et al. Nat Genet, 2010 Dec. PMID 21102462, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Experiments performed using mice, but the observations maybe relevant to other organisms as well.
      Title: Identification of a novel transcriptional corepressor, Corl2, as a cerebellar Purkinje cell-selective marker.
    2. Results verify IRX1, EBF3, SLC5A8, SEPT9, and FUSSEL18 as valid methylation markers in two separate sets of HNSCC specimens; also preliminarily show a trend between HPV16 positivity and target gene hypermethylation of IRX1, EBF3, SLC5A8, and SEPT9.
      Title: HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebellar Purkinje cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cerebellar granule cell precursor proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    SKI family transcriptional corepressor 2
    Names
    LBX1 corepressor 1-like protein
    functional Smad-suppressing element on chromosome 18
    functional smad suppressing element 18
    fussel-18
    ladybird homeobox corepressor 1-like protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001037802.3 → NP_001032891.1  SKI family transcriptional corepressor 2 isoform 2

      See identical proteins and their annotated locations for NP_001032891.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate donor splice site in the 5' coding region, lacks several exons, and contains an alternate 3' terminal exon compared to variant 1. The 5' region differences result in a frame-shift, and a shorter isoform (2, also known as FUSSEL18) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC051635, AY669508
      Consensus CDS
      CCDS62441.1
      UniProtKB/Swiss-Prot
      Q2VWA4
      Related
      ENSP00000383255.1, ENST00000400404.1
      Conserved Domains (2) summary
      pfam02437
      Location:39 → 132
      Ski_Sno; SKI/SNO/DAC family
      pfam08782
      Location:145 → 235
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain

    2. NM_001278063.4 → NP_001264992.1  SKI family transcriptional corepressor 2 isoform 1

      See identical proteins and their annotated locations for NP_001264992.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AC051635, DW009659
      Consensus CDS
      CCDS74222.1
      UniProtKB/Swiss-Prot
      A0A087X0E6, Q2VWA4
      Related
      ENSP00000414750.3, ENST00000425639.3
      Conserved Domains (2) summary
      cd21080
      Location:41 → 131
      DHD_Skor; Dachshund-homology domain found in SKI family transcriptional corepressors, Skor1, Skor2 and similar proteins
      cl07406
      Location:144 → 236
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      47206169..47251660 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437757.1 → XP_047293713.1  SKI family transcriptional corepressor 2 isoform X1

      UniProtKB/Swiss-Prot
      A0A087X0E6, Q2VWA4
      Related
      ENSP00000483333.1, ENST00000620245.4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      47396432..47441946 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319019.1 → XP_054174994.1  SKI family transcriptional corepressor 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2VWA4.3 GenPept UniProtKB/Swiss-Prot:Q2VWA4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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