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    TOX2 TOX high mobility group box family member 2 [ Homo sapiens (human) ]

    Gene ID: 84969, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TOX2provided by HGNC
    Official Full Name
    TOX high mobility group box family member 2provided by HGNC
    Primary source
    HGNC:HGNC:16095
    See related
    Ensembl:ENSG00000124191 MIM:611163; AllianceGenome:HGNC:16095
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GCX1; GCX-1; C20orf100; dJ495O3.1; dJ1108D11.2
    Summary
    Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 5.3), lymph node (RPKM 4.6) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TOX2 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (43914852..44069616)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (45648018..45804192)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42543492..42698256)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904908 Neighboring gene long intergenic non-protein coding RNA 1728 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42543229-42543946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42543947-42544664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42564724-42565224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42565225-42565725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:42571264-42571764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17918 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:42583279-42584478 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:42584612-42585246 Neighboring gene Sharpr-MPRA regulatory region 6747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42634840-42635340 Neighboring gene RNA, 7SL, cytoplasmic 443, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42696545-42697061 Neighboring gene Sharpr-MPRA regulatory region 7745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42739928-42740441 Neighboring gene Sharpr-MPRA regulatory region 3924 Neighboring gene junctophilin 2 Neighboring gene uncharacterized LOC124904909 Neighboring gene JPH2 intron CAGE-defined T cell enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr20:42795218-42795478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42806021-42806521 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:42809003-42809909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42810816-42811722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:42832370-42833569 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42838821-42839440 Neighboring gene oxidative stress responsive serine rich 1 Neighboring gene OSER1 divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide Regional Heritability Mapping Identifies a Locus Within the TOX2 Gene Associated With Major Depressive Disorder. Zeng Y, et al. Biol Psychiatry, 2017 Sep 1. PMID 28153336, Free PMC Article
    2. TOX2 coordinates with TET2 to positively regulate central memory differentiation in human CAR T cells. Collins SM, et al. Sci Adv, 2023 Jul 21. PMID 37467321, Free PMC Article
    3. CD4+ T cells in classical Hodgkin lymphoma express exhaustion associated transcription factors TOX and TOX2: Characterizing CD4+ T cells in Hodgkin lymphoma. Veldman J, et al. Oncoimmunology, 2022. PMID 35111387, Free PMC Article
    4. TOX2 nuclear-cytosol translocation is linked to leukemogenesis of acute T-cell leukemia by repressing TIM3 transcription. Li A, et al. Cell Death Differ, 2024 Nov. PMID 39080376, Free PMC Article
    5. TOX2 regulates human natural killer cell development by controlling T-BET expression. Vong QP, et al. Blood, 2014 Dec 18. PMID 25352127, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TOX2 nuclear-cytosol translocation is linked to leukemogenesis of acute T-cell leukemia by repressing TIM3 transcription.
      Title: TOX2 nuclear-cytosol translocation is linked to leukemogenesis of acute T-cell leukemia by repressing TIM3 transcription.
    2. TOX2 coordinates with TET2 to positively regulate central memory differentiation in human CAR T cells.
      Title: TOX2 coordinates with TET2 to positively regulate central memory differentiation in human CAR T cells.
    3. CD4+ T cells in classical Hodgkin lymphoma express exhaustion associated transcription factors TOX and TOX2: Characterizing CD4+ T cells in Hodgkin lymphoma.
      Title: CD4+ T cells in classical Hodgkin lymphoma express exhaustion associated transcription factors TOX and TOX2: Characterizing CD4+ T cells in Hodgkin lymphoma.
    4. 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.
      Title: Genome-wide Regional Heritability Mapping Identifies a Locus Within the TOX2 Gene Associated With Major Depressive Disorder.
    5. TOX2 plays a crucial role in controlling normal NK cell development by acting upstream of TBX21 transcriptional regulation
      Title: TOX2 regulates human natural killer cell development by controlling T-BET expression.
    6. 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.
      Title: Differential epigenetic regulation of TOX subfamily high mobility group box genes in lung and breast cancers.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    9. Identification and functional analysis of the rat Gcx1 ortholog.
      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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of conduct disorder symptomatology.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC15880

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TOX high mobility group box family member 2
    Names
    granulosa cell HMG box 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098796.2 → NP_001092266.1  TOX high mobility group box family member 2 isoform c

      See identical proteins and their annotated locations for NP_001092266.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate exon at its 5' end, which produces a unique 5' UTR and causes 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.
      Source sequence(s)
      AL035089, BC007636, BM545579, DA174963
      Consensus CDS
      CCDS13324.1
      UniProtKB/Swiss-Prot
      Q96NM4
      Related
      ENSP00000390278.1, ENST00000423191.6
      Conserved Domains (1) summary
      cd00084
      Location:204 → 269
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    2. NM_001098797.2 → NP_001092267.1  TOX high mobility group box family member 2 isoform a

      See identical proteins and their annotated locations for NP_001092267.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC007636, CB989964
      Consensus CDS
      CCDS46603.1
      UniProtKB/Swiss-Prot
      Q96NM4
      Related
      ENSP00000344724.3, ENST00000341197.9
      Conserved Domains (1) summary
      cd00084
      Location:246 → 311
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    3. NM_001098798.2 → NP_001092268.1  TOX high mobility group box family member 2 isoform b

      See identical proteins and their annotated locations for NP_001092268.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon at its 5' end and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform b) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK055135, BC007636, DA210275
      Consensus CDS
      CCDS42875.1
      UniProtKB/Swiss-Prot
      A8K1J1, E1P5X0, G3XAC7, Q5TE33, Q5TE34, Q5TE35, Q96IC9, Q96NM4, Q9BQN5
      Related
      ENSP00000350849.5, ENST00000358131.5
      Conserved Domains (1) summary
      cd00084
      Location:255 → 302
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    4. NM_032883.3 → NP_116272.1  TOX high mobility group box family member 2 isoform c

      See identical proteins and their annotated locations for NP_116272.1

      Status: VALIDATED

      Description
      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.
      Source sequence(s)
      AL035089, BC007636, BM545579
      Consensus CDS
      CCDS13324.1
      UniProtKB/Swiss-Prot
      Q96NM4
      Related
      ENSP00000362090.1, ENST00000372999.5
      Conserved Domains (1) summary
      cd00084
      Location:204 → 269
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      43914852..44069616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440561.1 → XP_047296517.1  TOX high mobility group box family member 2 isoform X1

    2. XM_047440565.1 → XP_047296521.1  TOX high mobility group box family member 2 isoform X7

    3. XM_047440563.1 → XP_047296519.1  TOX high mobility group box family member 2 isoform X4

    4. XM_047440560.1 → XP_047296516.1  TOX high mobility group box family member 2 isoform X1

    5. XM_017028109.2 → XP_016883598.1  TOX high mobility group box family member 2 isoform X5

    6. XM_047440562.1 → XP_047296518.1  TOX high mobility group box family member 2 isoform X3

      UniProtKB/TrEMBL
      H6UKR8

    7. XM_006723884.1 → XP_006723947.1  TOX high mobility group box family member 2 isoform X2

      UniProtKB/Swiss-Prot
      Q96NM4
      Conserved Domains (1) summary
      cd00084
      Location:255 → 320
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    8. XM_047440564.1 → XP_047296520.1  TOX high mobility group box family member 2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      45648018..45804192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324158.1 → XP_054180133.1  TOX high mobility group box family member 2 isoform X1

    2. XM_054324163.1 → XP_054180138.1  TOX high mobility group box family member 2 isoform X7

    3. XM_054324160.1 → XP_054180135.1  TOX high mobility group box family member 2 isoform X4

    4. XM_054324156.1 → XP_054180131.1  TOX high mobility group box family member 2 isoform X8

    5. XM_054324161.1 → XP_054180136.1  TOX high mobility group box family member 2 isoform X10

    6. XM_054324159.1 → XP_054180134.1  TOX high mobility group box family member 2 isoform X9

    7. XM_054324157.1 → XP_054180132.1  TOX high mobility group box family member 2 isoform X2

    8. XM_054324162.1 → XP_054180137.1  TOX high mobility group box family member 2 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NM4.2 GenPept UniProtKB/Swiss-Prot:Q96NM4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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