Skor2 SKI family transcriptional corepressor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Skor2provided by MGI
Official Full Name: SKI family transcriptional corepressor 2provided by MGI
Primary source: MGI:MGI:3645984
See related: Ensembl:ENSMUSG00000091519 AllianceGenome:MGI:3645984
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Corl2; Gm7348; EG664805; Fussel18
Summary: Enables SMAD binding activity; chromatin binding activity; and histone deacetylase binding activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including cerebellar Purkinje cell differentiation; regulation of neural precursor cell proliferation; and regulation of signal transduction. Located in nucleus. Is expressed in brain; dorsal root ganglion; and spinal cord. Orthologous to human SKOR2 (SKI family transcriptional corepressor 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 1.6), whole brain E14.5 (RPKM 1.5) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E3; 18 51.93 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (76934428..76988759)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (76846733..76901064)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our data show that mCORL2 and drosophila CORL share functions while mCORL1 has diverged which reinforces the current working hypothesis that neofunctionalization of a new gene can be achieved with a handful of advantageous amino acid changes in a highly conserved functional domain.
Title: Transgenic Analyses in Drosophila Reveal That mCORL1 Is Functionally Distinct from mCORL2 and dCORL.
The first SNP rs29972765 is located in a gene desert on chromosome 18, about 72 kb upstream of Skor2 . The second SNP rs30415957 resides in the intron of Plce1.The remaining two SNPs (rs30768258 and rs31216810) are close to each other on chromosome 19, in the vicinity of Sorbs1. Knockdown of Sorbs1 by siRNA attenuates the induction of differentiation marker gene Prl8a2
Title: Genome-Wide Association Mapping for Female Infertility in Inbred Mice.
Corl2/Skor2 has a role in regulating cerebellar Purkinje cell differentiation in a pathway involving RORalpha
Title: The c-Ski family member and transcriptional regulator Corl2/Skor2 promotes early differentiation of cerebellar Purkinje cells.
essential function for Skor2 as a novel transcriptional regulator in Purkinje cells that acts upstream of Shh during cerebellum development
Title: Transposon mutagenesis with coat color genotyping identifies an essential role for Skor2 in sonic hedgehog signaling and cerebellum development.
Results strongly suggest that Corl2 is a specific marker for Purkinje cells in the cerebellum from their emergence until the adult stage.
Title: Identification of a novel transcriptional corepressor, Corl2, as a cerebellar Purkinje cell-selective marker.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Transposon induced (3) 1 citation

General gene information

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Markers

Skor2 (e-PCR), detects polymorphism
- UniSTS:547631

Skor2 (e-PCR), detects polymorphism
- UniSTS:547650

Fussel18 (e-PCR), detects polymorphism
- UniSTS:497289

Gene Ontology Provided by MGI

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 SMAD binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
NOT acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cerebellar granule cell precursor proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of dendrite morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
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 suppressor element on chromosome 18; fussel-18 homolog; ladybird homeobox corepressor 1-like protein; transcriptional corepressor Corl2

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)

NM_001109743.1 → NP_001103213.1 SKI family transcriptional corepressor 2

See identical proteins and their annotated locations for NP_001103213.1

Status: PROVISIONAL

Source sequence(s)

AB358976

Consensus CDS

CCDS50322.1

UniProtKB/Swiss-Prot

A7M7C7

Related

ENSMUSP00000132338.2, ENSMUST00000166956.2

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

76934428..76988759

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526436.3 → XP_006526499.1 SKI family transcriptional corepressor 2 isoform X1

See identical proteins and their annotated locations for XP_006526499.1

UniProtKB/Swiss-Prot

A7M7C7

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