TOX2_HUMAN
ID TOX2_HUMAN Reviewed; 488 AA.
AC Q96NM4; A8K1J1; E1P5X0; G3XAC7; Q5TE33; Q5TE34; Q5TE35; Q96IC9; Q9BQN5;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 19-OCT-2002, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=TOX high mobility group box family member 2;
DE AltName: Full=Granulosa cell HMG box protein 1;
DE Short=GCX-1;
GN Name=TOX2; Synonyms=C20orf100, GCX1;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Brain, and Corpus callosum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Putative transcriptional activator involved in the
CC hypothalamo-pituitary-gonadal system.
CC -!- INTERACTION:
CC Q96NM4-3; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-12815137, EBI-11954519;
CC Q96NM4-3; Q6IPU0: CENPP; NbExp=3; IntAct=EBI-12815137, EBI-10250303;
CC Q96NM4-3; Q9H0L4: CSTF2T; NbExp=3; IntAct=EBI-12815137, EBI-747012;
CC Q96NM4-3; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-12815137, EBI-744099;
CC Q96NM4-3; P08631-2: HCK; NbExp=3; IntAct=EBI-12815137, EBI-9834454;
CC Q96NM4-3; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-12815137, EBI-748420;
CC Q96NM4-3; O75031: HSF2BP; NbExp=5; IntAct=EBI-12815137, EBI-7116203;
CC Q96NM4-3; Q96LI6: HSFY2; NbExp=3; IntAct=EBI-12815137, EBI-3957665;
CC Q96NM4-3; P56470: LGALS4; NbExp=3; IntAct=EBI-12815137, EBI-720805;
CC Q96NM4-3; O14561: NDUFAB1; NbExp=3; IntAct=EBI-12815137, EBI-1246261;
CC Q96NM4-3; Q7Z4N8: P4HA3; NbExp=3; IntAct=EBI-12815137, EBI-10181968;
CC Q96NM4-3; O43189: PHF1; NbExp=3; IntAct=EBI-12815137, EBI-530034;
CC Q96NM4-3; Q8N443: RIBC1; NbExp=3; IntAct=EBI-12815137, EBI-10265323;
CC Q96NM4-3; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-12815137, EBI-742688;
CC Q96NM4-3; Q15560: TCEA2; NbExp=3; IntAct=EBI-12815137, EBI-710310;
CC Q96NM4-3; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-12815137, EBI-750487;
CC Q96NM4-3; Q96M29: TEKT5; NbExp=3; IntAct=EBI-12815137, EBI-10239812;
CC Q96NM4-3; O43711: TLX3; NbExp=3; IntAct=EBI-12815137, EBI-3939165;
CC Q96NM4-3; Q8IV45: UNC5CL; NbExp=3; IntAct=EBI-12815137, EBI-12238241;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96NM4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96NM4-2; Sequence=VSP_002187;
CC Name=3;
CC IsoId=Q96NM4-3; Sequence=VSP_045645, VSP_002187;
CC Name=4;
CC IsoId=Q96NM4-4; Sequence=VSP_047108, VSP_002187;
CC -!- CAUTION: It is uncertain whether Met-1 or Met-52 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AK055135; BAB70860.1; -; mRNA.
DR EMBL; AK289906; BAF82595.1; -; mRNA.
DR EMBL; AL034419; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL121587; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL035089; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75944.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75945.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75946.1; -; Genomic_DNA.
DR EMBL; BC007636; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS13324.1; -. [Q96NM4-3]
DR CCDS; CCDS42875.1; -. [Q96NM4-1]
DR CCDS; CCDS46603.1; -. [Q96NM4-4]
DR RefSeq; NP_001092266.1; NM_001098796.1. [Q96NM4-3]
DR RefSeq; NP_001092267.1; NM_001098797.1. [Q96NM4-4]
DR RefSeq; NP_001092268.1; NM_001098798.1. [Q96NM4-1]
DR RefSeq; NP_116272.1; NM_032883.2. [Q96NM4-3]
DR RefSeq; XP_006723947.1; XM_006723884.1. [Q96NM4-2]
DR AlphaFoldDB; Q96NM4; -.
DR SMR; Q96NM4; -.
DR BioGRID; 124399; 31.
DR IntAct; Q96NM4; 25.
DR STRING; 9606.ENSP00000344724; -.
DR GlyGen; Q96NM4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96NM4; -.
DR PhosphoSitePlus; Q96NM4; -.
DR BioMuta; TOX2; -.
DR DMDM; 24211591; -.
DR jPOST; Q96NM4; -.
DR MassIVE; Q96NM4; -.
DR MaxQB; Q96NM4; -.
DR PeptideAtlas; Q96NM4; -.
DR PRIDE; Q96NM4; -.
DR ProteomicsDB; 15213; -.
DR ProteomicsDB; 33713; -.
DR ProteomicsDB; 77537; -. [Q96NM4-1]
DR ProteomicsDB; 77538; -. [Q96NM4-2]
DR Antibodypedia; 27319; 134 antibodies from 23 providers.
DR DNASU; 84969; -.
DR Ensembl; ENST00000341197.9; ENSP00000344724.3; ENSG00000124191.18. [Q96NM4-4]
DR Ensembl; ENST00000358131.5; ENSP00000350849.5; ENSG00000124191.18. [Q96NM4-1]
DR Ensembl; ENST00000372999.5; ENSP00000362090.1; ENSG00000124191.18. [Q96NM4-3]
DR Ensembl; ENST00000423191.6; ENSP00000390278.1; ENSG00000124191.18. [Q96NM4-3]
DR GeneID; 84969; -.
DR KEGG; hsa:84969; -.
DR MANE-Select; ENST00000341197.9; ENSP00000344724.3; NM_001098797.2; NP_001092267.1. [Q96NM4-4]
DR UCSC; uc002xle.5; human. [Q96NM4-1]
DR CTD; 84969; -.
DR DisGeNET; 84969; -.
DR GeneCards; TOX2; -.
DR HGNC; HGNC:16095; TOX2.
DR HPA; ENSG00000124191; Tissue enhanced (lymphoid).
DR MIM; 611163; gene.
DR neXtProt; NX_Q96NM4; -.
DR OpenTargets; ENSG00000124191; -.
DR PharmGKB; PA162406727; -.
DR VEuPathDB; HostDB:ENSG00000124191; -.
DR eggNOG; KOG0381; Eukaryota.
DR GeneTree; ENSGT00940000158764; -.
DR HOGENOM; CLU_030650_2_0_1; -.
DR InParanoid; Q96NM4; -.
DR OMA; GMNDNAQ; -.
DR OrthoDB; 818359at2759; -.
DR PhylomeDB; Q96NM4; -.
DR TreeFam; TF106481; -.
DR PathwayCommons; Q96NM4; -.
DR SignaLink; Q96NM4; -.
DR SIGNOR; Q96NM4; -.
DR BioGRID-ORCS; 84969; 11 hits in 1088 CRISPR screens.
DR ChiTaRS; TOX2; human.
DR GenomeRNAi; 84969; -.
DR Pharos; Q96NM4; Tbio.
DR PRO; PR:Q96NM4; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q96NM4; protein.
DR Bgee; ENSG00000124191; Expressed in secondary oocyte and 129 other tissues.
DR ExpressionAtlas; Q96NM4; baseline and differential.
DR Genevisible; Q96NM4; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0031490; F:chromatin DNA binding; IBA:GO_Central.
DR GO; GO:0003713; F:transcription coactivator activity; IDA:NTNU_SB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR Pfam; PF00505; HMG_box; 1.
DR SMART; SM00398; HMG; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
DR PROSITE; PS50118; HMG_BOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..488
FT /note="TOX high mobility group box family member 2"
FT /id="PRO_0000048571"
FT DNA_BIND 255..323
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 76..114
FT /note="Required for transcriptional activation"
FT /evidence="ECO:0000250"
FT REGION 192..258
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 293..328
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 363..473
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 223..252
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000250"
FT COMPBIAS 192..218
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 219..240
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 296..319
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 439..472
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..51
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045645"
FT VAR_SEQ 1..41
FT /note="MQQTRTEAVAGAFSRCLGFCGMRLGLLLLARHWCIAGVFPQ -> MDVRLYP
FT SAPAVGARPGAEPAGLAHLDYYHGG (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_047108"
FT VAR_SEQ 302
FT /note="Q -> QAYKRKTEAAKKEYLKALAAYRASLVSK (in isoform 2,
FT isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_002187"
FT VARIANT 223
FT /note="V -> A (in dbSNP:rs6103584)"
FT /id="VAR_049560"
FT CONFLICT 372
FT /note="P -> PP (in Ref. 1; BAF82595)"
FT /evidence="ECO:0000305"
FT CONFLICT 482
FT /note="D -> N (in Ref. 1; BAB70860)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 488 AA; 51604 MW; 687FD144CF30731A CRC64;
MQQTRTEAVA GAFSRCLGFC GMRLGLLLLA RHWCIAGVFP QKFDGDSAYV GMSDGNPELL
STSQTYNGQS ENNEDYEIPP ITPPNLPEPS LLHLGDHEAS YHSLCHGLTP NGLLPAYSYQ
AMDLPAIMVS NMLAQDSHLL SGQLPTIQEM VHSEVAAYDS GRPGPLLGRP AMLASHMSAL
SQSQLISQMG IRSSIAHSSP SPPGSKSATP SPSSSTQEEE SEVHFKISGE KRPSADPGKK
AKNPKKKKKK DPNEPQKPVS AYALFFRDTQ AAIKGQNPSA TFGDVSKIVA SMWDSLGEEQ
KQSSPDQGET KSTQANPPAK MLPPKQPMYA MPGLASFLTP SDLQAFRSGA SPASLARTLG
SKSLLPGLSA SPPPPPSFPL SPTLHQQLSL PPHAQGALLS PPVSMSPAPQ PPVLPTPMAL
QVQLAMSPSP PGPQDFPHIS EFPSSSGSCS PGPSNPTSSG DWDSSYPSGE CGISTCSLLP
RDKSLYLT
