TOX thymocyte selection associated high mobility group box [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOXprovided by HGNC
Official Full Name: thymocyte selection associated high mobility group boxprovided by HGNC
Primary source: HGNC:HGNC:18988
See related: Ensembl:ENSG00000198846 MIM:606863; AllianceGenome:HGNC:18988
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TOX1
Summary: The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]
Expression: Broad expression in lymph node (RPKM 9.9), brain (RPKM 6.2) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q12.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (58805412..59119147, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (59226626..59540470, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (59717971..60031706, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TOX as a new diagnostic marker for T cell large granular lymphocytic leukaemia.
Title: TOX as a new diagnostic marker for T cell large granular lymphocytic leukaemia.
TOX, TWIST1, STAT4, and SATB1 protein expressions in early-stage mycosis fungoides.
Title: TOX, TWIST1, STAT4, and SATB1 protein expressions in early-stage mycosis fungoides.
Evaluation of mRNA Expressions of TOX and NR4As in CD8+ T cells in Acute Leukemia.
Title: Evaluation of mRNA Expressions of TOX and NR4As in CD8+ T cells in Acute Leukemia.
Immune checkpoint receptor VISTA on immune cells is associated with expression of T-cell exhaustion marker TOX and worse prognosis in renal cell carcinoma with venous tumor thrombus.
Title: Immune checkpoint receptor VISTA on immune cells is associated with expression of T-cell exhaustion marker TOX and worse prognosis in renal cell carcinoma with venous tumor thrombus.
High TOX expression on CD8[+] T cells in pure red cell aplasia.
Title: High TOX expression on CD8(+) T cells in pure red cell aplasia.
TOX regulates T lymphocytes differentiation and its function in tumor.
Title: TOX regulates T lymphocytes differentiation and its function in tumor.
TOX promotes follicular helper T cell differentiation in patients with primary Sjogren's syndrome.
Title: TOX promotes follicular helper T cell differentiation in patients with primary Sjögren's syndrome.
The transcription factor TOX is involved in the regulation of T-cell exhaustion in neuroblastoma.
Title: The transcription factor TOX is involved in the regulation of T-cell exhaustion in neuroblastoma.
Transcriptional Pattern Analysis of Virus-Specific CD8+ T Cells in Hepatitis C Infection: Increased Expression of TOX and Eomesodermin During and After Persistent Antigen Recognition.
Title: Transcriptional Pattern Analysis of Virus-Specific CD8+ T Cells in Hepatitis C Infection: Increased Expression of TOX and Eomesodermin During and After Persistent Antigen Recognition.
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.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1536 (e-PCR)
- UniSTS:153617

D8S1537 (e-PCR)
- UniSTS:153618

D8S2115 (e-PCR)
- UniSTS:63514

TOX__1212 (e-PCR)
- UniSTS:468769

SHGC-34748 (e-PCR)
- UniSTS:62254

RH45962 (e-PCR)
- UniSTS:48950

G62621 (e-PCR)
- UniSTS:139601

WI-14705 (e-PCR)
- UniSTS:22618

RH47449 (e-PCR)
- UniSTS:45157

RH102300 (e-PCR)
- UniSTS:96634

G10593 (e-PCR)
- UniSTS:67452

RH92770 (e-PCR)
- UniSTS:92038

RH99181 (e-PCR)
- UniSTS:91274

RH11975 (e-PCR)
- UniSTS:81548

WI-20692 (e-PCR)
- UniSTS:49359

RH119283 (e-PCR)
- UniSTS:133845

D8S1658 (e-PCR)
- UniSTS:2039

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in CD4-positive, alpha-beta T cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in CD8-positive, alpha-beta T cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in NK T cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in Peyer's patch development	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in leukocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in lymph node development	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of natural killer cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neural precursor cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of positive thymic T cell selection	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: thymocyte selection-associated high mobility group box protein TOX

Names: thymus high mobility group box protein TOX

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.

Genomic

NG_011993.1 RefSeqGene

Range

5062..318797

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014729.3 → NP_055544.1 thymocyte selection-associated high mobility group box protein TOX

See identical proteins and their annotated locations for NP_055544.1

Status: REVIEWED

Source sequence(s)

AB018351, AC091195, CA439630

Consensus CDS

CCDS34897.1

UniProtKB/Swiss-Prot

O94900, Q96AV5

UniProtKB/TrEMBL

G8YXX4

Related

ENSP00000354842.1, ENST00000361421.2

Conserved Domains (2) summary

COG5648
Location:257 → 360

NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]

cd00084
Location:261 → 310

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 ...