SKOR2
SKI family transcriptional corepressor 2
Also known as: CORL2, Fussel-18, FUSSEL18, SKOR2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q2VWA4
- Gene
- SKOR2
- Ensembl
- ENSG00000215474
- Chromosome
- 18
- Canonical length
- 1015 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
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, Jul 2025]
Canonical amino-acid sequenceUniProt
1015 residues, UniProt reviewed canonical sequence.
>Q2VWA4|SKOR2
1 MASSPLPGPN DILLASPSSA FQPDTLSQPR PGHANLKPNQ VGQVILYGIP IVSLVIDGQE
61 RLCLAQISNT LLKNFSYNEI HNRRVALGIT CVQCTPVQLE ILRRAGAMPI SSRRCGMITK
121 REAERLCKSF LGENRPPKLP DNFAFDVSHE CAWGCRGSFI PARYNSSRAK CIKCSYCNMY
181 FSPNKFIFHS HRTPDAKYTQ PDAANFNSWR RHLKLTDKSP QDELVFAWED VKAMFNGGSR
241 KRALPQPGAH PACHPLSSVK AAAVAAAAAV AGGGGLLGPH LLGAPPPPPP PPPPLAELAG
301 APHAHHKRPR FDDDDDSLQE AAVVAAASLS AAAASLSVAA ASGGAGTGGG GAGGGCVAGV
361 GVGAGAGAGA GAGAKGPRSY PVIPVPSKGS FGGVLQKFPG CGGLFPHPYT FPAAAAAFSL
421 CHKKEDAGAA AEALGGAGAG GAGAAPKAGL SGLFWPAGRK DAFYPPFCMF WPPRTPGGLP
481 VPTYLQPPPQ PPSALGCALG ESPALLRQAF LDLAEPGGAA GSAEAAPPPG QPPQVVANGP
541 GSGPPPPAGG AGSRDALFES PPGGSGGDCS AGSTPPADSV AAAGAGAAAA GSGPAGSRVP
601 APHHPHLLEG RKAGGGSYHH SSAFRPVGGK DDAESLAKLH GASAGAPHSA QTHPHHHHHP
661 HHHHHHHHPP QPPSPLLLLP PQPDEPGSER HHPAPPPPPP PPPPPPLAQH PHHRGLLSPG
721 GTSCCYPSED SSEDEDDEEE EQEVDVEGHK PPEGEEEEEG RDPDDDEEED EETEVLLGDP
781 LVGGGRFLQG RGPSEKGSSR DRAPAVAGAF PLGLNSSRLL QEDGKLGDPG SDLPPPPPPP
841 LAPQKASGGG SSSPGSPVHH PSLEEQPSYK DSQKTKENNQ VIVSTKDDNS FSDKNKEHSF
901 FITDSDASGG DFWRERSGEH TQETNSPHSL KKDVENMGKE ELQKVLFEQI DLRRRLEQEF
961 QVLKGNTSFP VFNNFQDQMK RELAYREEMV QQLQIIPYAA SLIRKEKLGA HLSKSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SKOR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 0.7 nTPM
Expression across tissuesHPA
Tissue
- testis: 0.7 nTPM
- cerebellum: 0.3 nTPM
- retina: 0.2 nTPM
- hypothalamus: 0.1 nTPM
- spinal cord: 0.1 nTPM
- adipose tissue: 0 nTPM
Single-cell type
- early primary spermatocytes: 15 nCPM
- differentiating spermatogonia: 6.5 nCPM
- retinal bipolar cells: 6.4 nCPM
- undifferentiated spermatogonia: 3.6 nCPM
- late spermatids: 2.2 nCPM
- late primary spermatocytes: 1.9 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 6.1 nTPM
- spinal cord: 4.3 nTPM
- medulla oblongata: 4.1 nTPM
- pons: 2.5 nTPM
- hippocampal formation: 1.7 nTPM
- cerebellum: 1.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SKOR2.
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 6 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mild intellectual disability
- Gait ataxia
- Dysarthria
- Valence-Farazi cerebellar ataxia syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0.75
- gnomAD missense Z
- 1.63
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
OntologyGO
Biological processes
- cell development
- cerebellar Purkinje cell differentiation
- negative regulation of BMP signaling pathway
- negative regulation of transcription by RNA polymerase II
- negative regulation of transforming growth factor beta receptor signaling pathway
- positive regulation of smoothened signaling pathway
- regulation of cerebellar granule cell precursor proliferation
- regulation of dendrite morphogenesis
- regulation of DNA-templated transcription
- regulation of neuroblast proliferation
- smoothened signaling pathway
Molecular functions
- chromatin binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- histone deacetylase binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- SMAD binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SKOR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SKOR2 as an antibody target. Whether an autoantibody or antibody against SKOR2 could matter depends on whether native SKOR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SKOR2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SKOR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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