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 24-JAN-2024, entry version 183. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 PaxDb; 9606-ENSP00000344724; -. DR PeptideAtlas; Q96NM4; -. DR ProteomicsDB; 15213; -. DR ProteomicsDB; 33713; -. DR ProteomicsDB; 77537; -. [Q96NM4-1] DR ProteomicsDB; 77538; -. [Q96NM4-2] DR Pumba; Q96NM4; -. DR Antibodypedia; 27319; 155 antibodies from 24 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 AGR; HGNC:16095; -. 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; MGMNEAN; -. DR OrthoDB; 4252846at2759; -. DR PhylomeDB; Q96NM4; -. DR TreeFam; TF106481; -. DR PathwayCommons; Q96NM4; -. DR SignaLink; Q96NM4; -. DR SIGNOR; Q96NM4; -. DR BioGRID-ORCS; 84969; 11 hits in 1164 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 131 other cell types or tissues. DR ExpressionAtlas; Q96NM4; baseline and differential. 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 CDD; cd21995; HMG-box_TOX-like; 1. DR Gene3D; 1.10.30.10; High mobility group box domain; 1. DR InterPro; IPR009071; HMG_box_dom. DR InterPro; IPR036910; HMG_box_dom_sf. DR PANTHER; PTHR45781; AGAP000281-PA; 1. DR PANTHER; PTHR45781:SF5; TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 2; 1. DR Pfam; PF00505; HMG_box; 1. DR SMART; SM00398; HMG; 1. DR SUPFAM; SSF47095; HMG-box; 1. DR PROSITE; PS50118; HMG_BOX_2; 1. DR Genevisible; Q96NM4; HS. 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 //