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

Gene ID: 84969, updated on 12-Nov-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, Nov 2024]
Expression
Broad expression in testis (RPKM 5.3), lymph node (RPKM 4.6) and 21 other tissues See more
Orthologs
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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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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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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

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