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

Gene ID: 652991, updated on 5-Mar-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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
18q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (47206169..47251660, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (47396432..47441946, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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 (10) 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)

Genotypes

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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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_2023_10

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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