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TOX high mobility group box family member 2 isoform c [Homo sapiens]

NCBI Reference Sequence: NP_116272.1

Identical Proteins FASTA Graphics 

LOCUS       NP_116272                464 aa            linear   PRI 12-NOV-2024
DEFINITION  TOX high mobility group box family member 2 isoform c [Homo
            sapiens].
ACCESSION   NP_116272
VERSION     NP_116272.1
DBSOURCE    REFSEQ: accession NM_032883.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 464)
  AUTHORS   Li,A., Zhang,J., Zhan,L., Liu,X., Zeng,X., Zhu,Q., Wang,Z. and
            Li,J.
  TITLE     TOX2 nuclear-cytosol translocation is linked to leukemogenesis of
            acute T-cell leukemia by repressing TIM3 transcription
  JOURNAL   Cell Death Differ 31 (11), 1506-1518 (2024)
   PUBMED   39080376
  REMARK    GeneRIF: TOX2 nuclear-cytosol translocation is linked to
            leukemogenesis of acute T-cell leukemia by repressing TIM3
            transcription.
REFERENCE   2  (residues 1 to 464)
  AUTHORS   Collins,S.M., Alexander,K.A., Lundh,S., Dimitri,A.J., Zhang,Z.,
            Good,C.R., Fraietta,J.A. and Berger,S.L.
  TITLE     TOX2 coordinates with TET2 to positively regulate central memory
            differentiation in human CAR T cells
  JOURNAL   Sci Adv 9 (29), eadh2605 (2023)
   PUBMED   37467321
  REMARK    GeneRIF: TOX2 coordinates with TET2 to positively regulate central
            memory differentiation in human CAR T cells.
REFERENCE   3  (residues 1 to 464)
  AUTHORS   Veldman,J., Rodrigues Placa,J., Chong,L., Terpstra,M.M., Mastik,M.,
            van Kempen,L.C., Kok,K., Aoki,T., Steidl,C., van den Berg,A.,
            Visser,L. and Diepstra,A.
  TITLE     CD4+ T cells in classical Hodgkin lymphoma express exhaustion
            associated transcription factors TOX and TOX2: Characterizing CD4+
            T cells in Hodgkin lymphoma
  JOURNAL   Oncoimmunology 11 (1), 2033433 (2022)
   PUBMED   35111387
  REMARK    GeneRIF: CD4+ T cells in classical Hodgkin lymphoma express
            exhaustion associated transcription factors TOX and TOX2:
            Characterizing CD4+ T cells in Hodgkin lymphoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 464)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (residues 1 to 464)
  AUTHORS   Zeng,Y., Navarro,P., Shirali,M., Howard,D.M., Adams,M.J.,
            Hall,L.S., Clarke,T.K., Thomson,P.A., Smith,B.H., Murray,A.,
            Padmanabhan,S., Hayward,C., Boutin,T., MacIntyre,D.J., Lewis,C.M.,
            Wray,N.R., Mehta,D., Penninx,B.W.J.H., Milaneschi,Y., Baune,B.T.,
            Air,T., Hottenga,J.J., Mbarek,H., Castelao,E., Pistis,G.,
            Schulze,T.G., Streit,F., Forstner,A.J., Byrne,E.M., Martin,N.G.,
            Breen,G., Muller-Myhsok,B., Lucae,S., Kloiber,S., Domenici,E.,
            Deary,I.J., Porteous,D.J., Haley,C.S. and McIntosh,A.M.
  CONSRTM   Major Depressive Disorder Working Group of the Psychiatric Genomics
            Consortium
  TITLE     Genome-wide Regional Heritability Mapping Identifies a Locus Within
            the TOX2 Gene Associated With Major Depressive Disorder
  JOURNAL   Biol Psychiatry 82 (5), 312-321 (2017)
   PUBMED   28153336
  REMARK    GeneRIF: A haplotype block across a 24-kb region within the TOX2
            gene reached genome-wide significance in haplotype-block-based
            regional heritability mapping. Single-SNP- and haplotype-based
            association tests demonstrated that five of nine genotyped SNPs and
            two haplotypes within this block were significantly associated with
            major depressive disorder.
REFERENCE   6  (residues 1 to 464)
  AUTHORS   Tessema,M., Yingling,C.M., Grimes,M.J., Thomas,C.L., Liu,Y.,
            Leng,S., Joste,N. and Belinsky,S.A.
  TITLE     Differential epigenetic regulation of TOX subfamily high mobility
            group box genes in lung and breast cancers
  JOURNAL   PLoS One 7 (4), e34850 (2012)
   PUBMED   22496870
  REMARK    GeneRIF: A novel aberrantly hypermethylated CpG island in cancer
            was discovered within the TOX2 promoter. TOX2 was unmethylated in
            normal cells. Expression of two novel TOX2 transcripts was
            significantly reduced in primary lung tumors.
REFERENCE   7  (residues 1 to 464)
  AUTHORS   Dick,D.M., Aliev,F., Krueger,R.F., Edwards,A., Agrawal,A.,
            Lynskey,M., Lin,P., Schuckit,M., Hesselbrock,V., Nurnberger,J. Jr.,
            Almasy,L., Porjesz,B., Edenberg,H.J., Bucholz,K., Kramer,J.,
            Kuperman,S. and Bierut,L.
  TITLE     Genome-wide association study of conduct disorder symptomatology
  JOURNAL   Mol Psychiatry 16 (8), 800-808 (2011)
   PUBMED   20585324
REFERENCE   8  (residues 1 to 464)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 464)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   10 (residues 1 to 464)
  AUTHORS   Kajitani,T., Mizutani,T., Yamada,K., Yazawa,T., Sekiguchi,T.,
            Yoshino,M., Kawata,H. and Miyamoto,K.
  TITLE     Cloning and characterization of granulosa cell high-mobility group
            (HMG)-box protein-1, a novel HMG-box transcriptional regulator
            strongly expressed in rat ovarian granulosa cells
  JOURNAL   Endocrinology 145 (5), 2307-2318 (2004)
   PUBMED   14764631
  REMARK    GeneRIF: Identification and functional analysis of the rat Gcx1
            ortholog.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035089.21, BM545579.1 and BC007636.1.
            
            Transcript Variant: This variant (3) has multiple differences in
            the presence and absence of exons at its 5' end, compared to
            variant 1. These differences produce a unique 5' UTR and cause
            translation initiation at a downstream start codon, compared to
            variant 1. The encoded protein (isoform c) is shorter than isoform
            a. Both variants 3 and 4 encode isoform c.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC007636.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     Protein         1..464
                     /product="TOX high mobility group box family member 2
                     isoform c"
                     /note="granulosa cell HMG box 1"
                     /calculated_mol_wt=48981
     Region          205..274
                     /region_name="HMG-box_TOX-like"
                     /note="high mobility group (HMG)-box found in the TOX high
                     mobility group box family; cd21995"
                     /db_xref="CDD:438811"
     Site            order(205..206,208..212,215..216,223,235..236,239,
                     242..243,250,254,257,261,264)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438811"
     CDS             1..464
                     /gene="TOX2"
                     /gene_synonym="C20orf100; dJ1108D11.2; dJ495O3.1; GCX-1;
                     GCX1"
                     /coded_by="NM_032883.3:232..1626"
                     /note="isoform c is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS13324.1"
                     /db_xref="GeneID:84969"
                     /db_xref="HGNC:HGNC:16095"
                     /db_xref="MIM:611163"
ORIGIN      
        1 msdgnpells tsqtyngqse nnedyeippi tppnlpepsl lhlgdheasy hslchgltpn
       61 gllpaysyqa mdlpaimvsn mlaqdshlls gqlptiqemv hsevaaydsg rpgpllgrpa
      121 mlashmsals qsqlisqmgi rssiahssps ppgsksatps pssstqeees evhfkisgek
      181 rpsadpgkka knpkkkkkkd pnepqkpvsa yalffrdtqa aikgqnpsat fgdvskivas
      241 mwdslgeeqk qaykrkteaa kkeylkalaa yraslvskss pdqgetkstq anppakmlpp
      301 kqpmyampgl asfltpsdlq afrsgaspas lartlgsksl lpglsasppp ppsfplsptl
      361 hqqlslppha qgallsppvs mspapqppvl ptpmalqvql amspsppgpq dfphisefps
      421 ssgscspgps nptssgdwds sypsgecgis tcsllprdks lylt
//
Feature
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