ID   SKOR2_HUMAN             Reviewed;        1015 AA.
AC   Q2VWA4; A0A087X0E6;
DT   20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT   29-SEP-2021, sequence version 3.
DT   27-MAR-2024, entry version 139.
DE   RecName: Full=SKI family transcriptional corepressor 2 {ECO:0000305};
DE   AltName: Full=Functional Smad-suppressing element on chromosome 18;
DE            Short=Fussel-18;
DE   AltName: Full=LBX1 corepressor 1-like protein;
DE   AltName: Full=Ladybird homeobox corepressor 1-like protein;
GN   Name=SKOR2 {ECO:0000312|HGNC:HGNC:32695}; Synonyms=CORL2, FUSSEL18;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR
RP   LOCATION, INTERACTION WITH SMAD2 AND SMAD3, AND FUNCTION.
RX   PubMed=16200078; DOI=10.1038/labinvest.3700344;
RA   Arndt S., Poser I., Schubert T., Moser M., Bosserhoff A.-K.;
RT   "Cloning and functional characterization of a new Ski homolog, Fussel-18,
RT   specifically expressed in neuronal tissues.";
RL   Lab. Invest. 85:1330-1341(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16177791; DOI=10.1038/nature03983;
RA   Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA   Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA   Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA   Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA   Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA   Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA   Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA   Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA   Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 18.";
RL   Nature 437:551-555(2005).
CC   -!- FUNCTION: Exhibits transcriptional repressor activity (By similarity).
CC       Acts as a TGF-beta antagonist in the nervous system. {ECO:0000250,
CC       ECO:0000269|PubMed:16200078}.
CC   -!- SUBUNIT: Interacts with SMAD2 and SMAD3. {ECO:0000269|PubMed:16200078}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16200078}. Cytoplasm
CC       {ECO:0000269|PubMed:16200078}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q2VWA4-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q2VWA4-2; Sequence=VSP_033691, VSP_033692;
CC   -!- TISSUE SPECIFICITY: Expressed in cerebellum, spinal cord and testis.
CC       Isoform 2 is present in cerebellum (at protein level).
CC       {ECO:0000269|PubMed:16200078}.
CC   -!- SIMILARITY: Belongs to the SKI family. {ECO:0000305}.
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DR   EMBL; AY669508; AAV74189.1; -; mRNA.
DR   EMBL; AC051635; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS62441.1; -. [Q2VWA4-2]
DR   CCDS; CCDS74222.1; -. [Q2VWA4-1]
DR   RefSeq; NP_001032891.1; NM_001037802.1. [Q2VWA4-2]
DR   RefSeq; NP_001264992.1; NM_001278063.1. [Q2VWA4-1]
DR   RefSeq; XP_006722588.1; XM_006722525.3.
DR   AlphaFoldDB; Q2VWA4; -.
DR   SMR; Q2VWA4; -.
DR   BioGRID; 535036; 1.
DR   STRING; 9606.ENSP00000414750; -.
DR   iPTMnet; Q2VWA4; -.
DR   PhosphoSitePlus; Q2VWA4; -.
DR   BioMuta; SKOR2; -.
DR   DMDM; 189082904; -.
DR   MassIVE; Q2VWA4; -.
DR   PaxDb; 9606-ENSP00000483333; -.
DR   PeptideAtlas; Q2VWA4; -.
DR   ProteomicsDB; 61524; -. [Q2VWA4-1]
DR   ProteomicsDB; 61525; -. [Q2VWA4-2]
DR   Antibodypedia; 58871; 90 antibodies from 15 providers.
DR   DNASU; 652991; -.
DR   Ensembl; ENST00000400404.1; ENSP00000383255.1; ENSG00000215474.8. [Q2VWA4-2]
DR   Ensembl; ENST00000425639.3; ENSP00000414750.3; ENSG00000215474.8. [Q2VWA4-1]
DR   Ensembl; ENST00000620245.4; ENSP00000483333.1; ENSG00000215474.8. [Q2VWA4-1]
DR   GeneID; 652991; -.
DR   KEGG; hsa:652991; -.
DR   MANE-Select; ENST00000425639.3; ENSP00000414750.3; NM_001278063.4; NP_001264992.1.
DR   UCSC; uc010dnt.2; human. [Q2VWA4-1]
DR   UCSC; uc031rif.1; human.
DR   AGR; HGNC:32695; -.
DR   CTD; 652991; -.
DR   DisGeNET; 652991; -.
DR   GeneCards; SKOR2; -.
DR   HGNC; HGNC:32695; SKOR2.
DR   HPA; ENSG00000215474; Not detected.
DR   MIM; 617138; gene.
DR   neXtProt; NX_Q2VWA4; -.
DR   OpenTargets; ENSG00000215474; -.
DR   VEuPathDB; HostDB:ENSG00000215474; -.
DR   eggNOG; ENOG502QQC2; Eukaryota.
DR   GeneTree; ENSGT00940000160474; -.
DR   HOGENOM; CLU_011930_1_0_1; -.
DR   InParanoid; Q2VWA4; -.
DR   OMA; QLQIVRC; -.
DR   OrthoDB; 2898797at2759; -.
DR   PhylomeDB; Q2VWA4; -.
DR   TreeFam; TF324133; -.
DR   PathwayCommons; Q2VWA4; -.
DR   SignaLink; Q2VWA4; -.
DR   BioGRID-ORCS; 652991; 2 hits in 1017 CRISPR screens.
DR   ChiTaRS; SKOR2; human.
DR   GenomeRNAi; 652991; -.
DR   Pharos; Q2VWA4; Tbio.
DR   PRO; PR:Q2VWA4; -.
DR   Proteomes; UP000005640; Chromosome 18.
DR   RNAct; Q2VWA4; Protein.
DR   Bgee; ENSG00000215474; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 15 other cell types or tissues.
DR   ExpressionAtlas; Q2VWA4; baseline and differential.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0005667; C:transcription regulator complex; IBA:GO_Central.
DR   GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR   GO; GO:0042826; F:histone deacetylase binding; IEA:Ensembl.
DR   GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR   GO; GO:0046332; F:SMAD binding; IPI:UniProtKB.
DR   GO; GO:0048468; P:cell development; IEA:Ensembl.
DR   GO; GO:0021702; P:cerebellar Purkinje cell differentiation; IEA:Ensembl.
DR   GO; GO:0030514; P:negative regulation of BMP signaling pathway; IBA:GO_Central.
DR   GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; IDA:UniProtKB.
DR   GO; GO:0045880; P:positive regulation of smoothened signaling pathway; IEA:Ensembl.
DR   GO; GO:0021936; P:regulation of cerebellar granule cell precursor proliferation; IEA:Ensembl.
DR   GO; GO:0048814; P:regulation of dendrite morphogenesis; IEA:Ensembl.
DR   GO; GO:0006355; P:regulation of DNA-templated transcription; NAS:UniProtKB.
DR   GO; GO:1902692; P:regulation of neuroblast proliferation; IEA:Ensembl.
DR   GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
DR   CDD; cd21080; DHD_Skor; 1.
DR   Gene3D; 3.10.390.10; SAND domain-like; 1.
DR   Gene3D; 3.10.260.20; Ski; 1.
DR   InterPro; IPR014890; c-SKI_SMAD4-bd_dom.
DR   InterPro; IPR009061; DNA-bd_dom_put_sf.
DR   InterPro; IPR010919; SAND-like_dom_sf.
DR   InterPro; IPR003380; SKI/SNO/DAC.
DR   InterPro; IPR037000; Ski_DNA-bd_sf.
DR   InterPro; IPR023216; Tscrpt_reg_SKI_SnoN.
DR   PANTHER; PTHR10005:SF7; SKI FAMILY TRANSCRIPTIONAL COREPRESSOR 2; 1.
DR   PANTHER; PTHR10005; SKI ONCOGENE-RELATED; 1.
DR   Pfam; PF08782; c-SKI_SMAD_bind; 1.
DR   Pfam; PF02437; Ski_Sno; 1.
DR   SMART; SM01046; c-SKI_SMAD_bind; 1.
DR   SUPFAM; SSF46955; Putative DNA-binding domain; 1.
DR   SUPFAM; SSF63763; SAND domain-like; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cytoplasm; Nucleus; Reference proteome; Repressor;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..1015
FT                   /note="SKI family transcriptional corepressor 2"
FT                   /id="PRO_0000334611"
FT   REGION          280..316
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          518..934
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        281..298
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        301..316
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        526..547
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        651..670
FT                   /note="Basic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        692..710
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        729..744
FT                   /note="Acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        757..776
FT                   /note="Acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        830..844
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        873..888
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        909..934
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         259..296
FT                   /note="VKAAAVAAAAAVAGGGGLLGPHLLGAPPPPPPPPPPLA -> IRTRSIAFSS
FT                   QTLMLLEEIFGEKDQEDYMRINEDNIWL (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16200078"
FT                   /id="VSP_033691"
FT   VAR_SEQ         297..1015
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16200078"
FT                   /id="VSP_033692"
FT   VARIANT         947
FT                   /note="F -> C (in dbSNP:rs7235231)"
FT                   /id="VAR_043438"
SQ   SEQUENCE   1015 AA;  105809 MW;  2EB8178A06F5D38B CRC64;
     MASSPLPGPN DILLASPSSA FQPDTLSQPR PGHANLKPNQ VGQVILYGIP IVSLVIDGQE
     RLCLAQISNT LLKNFSYNEI HNRRVALGIT CVQCTPVQLE ILRRAGAMPI SSRRCGMITK
     REAERLCKSF LGENRPPKLP DNFAFDVSHE CAWGCRGSFI PARYNSSRAK CIKCSYCNMY
     FSPNKFIFHS HRTPDAKYTQ PDAANFNSWR RHLKLTDKSP QDELVFAWED VKAMFNGGSR
     KRALPQPGAH PACHPLSSVK AAAVAAAAAV AGGGGLLGPH LLGAPPPPPP PPPPLAELAG
     APHAHHKRPR FDDDDDSLQE AAVVAAASLS AAAASLSVAA ASGGAGTGGG GAGGGCVAGV
     GVGAGAGAGA GAGAKGPRSY PVIPVPSKGS FGGVLQKFPG CGGLFPHPYT FPAAAAAFSL
     CHKKEDAGAA AEALGGAGAG GAGAAPKAGL SGLFWPAGRK DAFYPPFCMF WPPRTPGGLP
     VPTYLQPPPQ PPSALGCALG ESPALLRQAF LDLAEPGGAA GSAEAAPPPG QPPQVVANGP
     GSGPPPPAGG AGSRDALFES PPGGSGGDCS AGSTPPADSV AAAGAGAAAA GSGPAGSRVP
     APHHPHLLEG RKAGGGSYHH SSAFRPVGGK DDAESLAKLH GASAGAPHSA QTHPHHHHHP
     HHHHHHHHPP QPPSPLLLLP PQPDEPGSER HHPAPPPPPP PPPPPPLAQH PHHRGLLSPG
     GTSCCYPSED SSEDEDDEEE EQEVDVEGHK PPEGEEEEEG RDPDDDEEED EETEVLLGDP
     LVGGGRFLQG RGPSEKGSSR DRAPAVAGAF PLGLNSSRLL QEDGKLGDPG SDLPPPPPPP
     LAPQKASGGG SSSPGSPVHH PSLEEQPSYK DSQKTKENNQ VIVSTKDDNS FSDKNKEHSF
     FITDSDASGG DFWRERSGEH TQETNSPHSL KKDVENMGKE ELQKVLFEQI DLRRRLEQEF
     QVLKGNTSFP VFNNFQDQMK RELAYREEMV QQLQIIPYAA SLIRKEKLGA HLSKS
//