SKOR2 (SKI family transcriptional corepressor 2)

Gene

• Entrez ID: 652991
• Gene name: SKI family transcriptional corepressor 2
• Gene symbol: SKOR2
• Synonyms (NCBI Gene): CH18515, CORL2, FUSSEL18
• Chromosome: 18
• Chromosome location: 18q21.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16200078
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16200078
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	16200078
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0021587	Process	Cerebellum morphogenesis	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021936	Process	Regulation of cerebellar granule cell precursor proliferation	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	16200078
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0046332	Function	SMAD binding	IBA
GO:0046332	Function	SMAD binding	IEA
GO:0046332	Function	SMAD binding	IPI	16200078
GO:0048468	Process	Cell development	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IEA
GO:0090101	Process	Negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA
GO:1902692	Process	Regulation of neuroblast proliferation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 617138
• HGNC: 32695
• e!Ensembl: ENSG00000215474

Protein

• UniProt ID: Q2VWA4
• Protein name: SKI family transcriptional corepressor 2 (Functional Smad-suppressing element on chromosome 18) (Fussel-18) (LBX1 corepressor 1-like protein) (Ladybird homeobox corepressor 1-like protein)
• Protein function: Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02437	Ski_Sno	25 → 132	SKI/SNO/DAC family	Family
  PF08782	c-SKI_SMAD_bind	144 → 235	c-SKI Smad4 binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in cerebellum, spinal cord and testis. Isoform 2 is present in cerebellum (at protein level). {ECO:0000269|PubMed:16200078}.
• Sequence:

  MASSPLPGPNDILLASPSSAFQPDTLSQPRPGHANLKPNQVGQVILYGIPIVSLVIDGQE
  RLCLAQISNTLLKNFSYNEIHNRRVALGITCVQCTPVQLEILRRAGAMPISSRRCGMITK
  REAERLCKSFLGENRPPKLPDNFAFDVSHECAWGCRGSFIPARYNSSRAKCIKCSYCNMY
  FSPNKFIFHSHRTPDAKYTQPDAANFNSWRRHLKLTDKSPQDELVFAWEDVKAMFNGGSR
  KRALPQPGAHPACHPLSSVKAAAVAAAAAVAGGGGLLGPHLLGAPPPPPPPPPPLAELAG
  APHAHHKRPRFDDDDDSLQEAAVVAAASLSAAAASLSVAAASGGAGTGGGGAGGGCVAGV
  GVGAGAGAGAGAGAKGPRSYPVIPVPSKGSFGGVLQKFPGCGGLFPHPYTFPAAAAAFSL
  CHKKEDAGAAAEALGGAGAGGAGAAPKAGLSGLFWPAGRKDAFYPPFCMFWPPRTPGGLP
  VPTYLQPPPQPPSALGCALGESPALLRQAFLDLAEPGGAAGSAEAAPPPGQPPQVVANGP
  GSGPPPPAGGAGSRDALFESPPGGSGGDCSAGSTPPADSVAAAGAGAAAAGSGPAGSRVP
  APHHPHLLEGRKAGGGSYHHSSAFRPVGGKDDAESLAKLHGASAGAPHSAQTHPHHHHHP
  HHHHHHHHPPQPPSPLLLLPPQPDEPGSERHHPAPPPPPPPPPPPPLAQHPHHRGLLSPG
  GTSCCYPSEDSSEDEDDEEEEQEVDVEGHKPPEGEEEEEGRDPDDDEEEDEETEVLLGDP
  LVGGGRFLQGRGPSEKGSSRDRAPAVAGAFPLGLNSSRLLQEDGKLGDPGSDLPPPPPPP
  LAPQKASGGGSSSPGSPVHHPSLEEQPSYKDSQKTKENNQVIVSTKDDNSFSDKNKEHSF
  FITDSDASGGDFWRERSGEHTQETNSPHSLKKDVENMGKEELQKVLFEQIDLRRRLEQEF
  QVLKGNTSFPVFNNFQDQMKRELAYREEMVQQLQIVSCIST

• Sequence length: 1001

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSARTHRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	29997391	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20029986		★☆☆☆☆ Found in Text Mining only