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
//