TOX (thymocyte selection associated high mobility group box)

Gene

• Entrez ID: 9760
• Gene name: Thymocyte selection associated high mobility group box
• Gene symbol: TOX
• Synonyms (NCBI Gene): TOX1
• Chromosome: 8
• Chromosome location: 8q12.1
• 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 Re

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030248	hsa-miR-26b-5p	Microarray	19088304
MIRT1447876	hsa-miR-1202	CLIP-seq
MIRT1447877	hsa-miR-129-5p	CLIP-seq
MIRT1447878	hsa-miR-302a	CLIP-seq
MIRT1447879	hsa-miR-302b	CLIP-seq
MIRT1447880	hsa-miR-302c	CLIP-seq
MIRT1447881	hsa-miR-302d	CLIP-seq
MIRT1447882	hsa-miR-302e	CLIP-seq
MIRT1447883	hsa-miR-3194-5p	CLIP-seq
MIRT1447884	hsa-miR-3646	CLIP-seq
MIRT1447885	hsa-miR-3671	CLIP-seq
MIRT1447886	hsa-miR-3674	CLIP-seq
MIRT1447887	hsa-miR-372	CLIP-seq
MIRT1447888	hsa-miR-373	CLIP-seq
MIRT1447889	hsa-miR-3972	CLIP-seq
MIRT1447890	hsa-miR-4453	CLIP-seq
MIRT1447891	hsa-miR-4538	CLIP-seq
MIRT1447892	hsa-miR-4732-5p	CLIP-seq
MIRT1447893	hsa-miR-4766-3p	CLIP-seq
MIRT1447894	hsa-miR-4775	CLIP-seq
MIRT1447895	hsa-miR-4776-3p	CLIP-seq
MIRT1447896	hsa-miR-4795-3p	CLIP-seq
MIRT1447897	hsa-miR-519a	CLIP-seq
MIRT1447898	hsa-miR-519b-3p	CLIP-seq
MIRT1447899	hsa-miR-519c-3p	CLIP-seq
MIRT1447900	hsa-miR-520a-3p	CLIP-seq
MIRT1447901	hsa-miR-520b	CLIP-seq
MIRT1447902	hsa-miR-520c-3p	CLIP-seq
MIRT1447903	hsa-miR-520d-3p	CLIP-seq
MIRT1447904	hsa-miR-520e	CLIP-seq
MIRT1447905	hsa-miR-520f	CLIP-seq
MIRT1447906	hsa-miR-545	CLIP-seq
MIRT1447907	hsa-miR-548p	CLIP-seq
MIRT1447908	hsa-miR-607	CLIP-seq
MIRT1447909	hsa-miR-891b	CLIP-seq
MIRT2133972	hsa-miR-1262	CLIP-seq
MIRT2133973	hsa-miR-3180-5p	CLIP-seq
MIRT2133974	hsa-miR-4328	CLIP-seq
MIRT2133975	hsa-miR-4481	CLIP-seq
MIRT2133976	hsa-miR-4659a-3p	CLIP-seq
MIRT2133977	hsa-miR-4659b-3p	CLIP-seq
MIRT2133978	hsa-miR-4701-3p	CLIP-seq
MIRT2133979	hsa-miR-4745-5p	CLIP-seq
MIRT2133980	hsa-miR-513c	CLIP-seq
MIRT2133981	hsa-miR-514b-5p	CLIP-seq
MIRT2133982	hsa-miR-520a-5p	CLIP-seq
MIRT2133983	hsa-miR-525-5p	CLIP-seq
MIRT2133984	hsa-miR-759	CLIP-seq
MIRT2355005	hsa-miR-4687-5p	CLIP-seq
MIRT2441489	hsa-miR-4269	CLIP-seq
MIRT2441490	hsa-miR-4514	CLIP-seq
MIRT2441491	hsa-miR-4692	CLIP-seq
MIRT2441492	hsa-miR-4742-5p	CLIP-seq
MIRT2133980	hsa-miR-513c	CLIP-seq
MIRT2133981	hsa-miR-514b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001779	Process	Natural killer cell differentiation	IMP	21126536
GO:0002362	Process	CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment	IEA
GO:0002362	Process	CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment	ISS
GO:0002364	Process	NK T cell lineage commitment	IEA
GO:0002364	Process	NK T cell lineage commitment	ISS
GO:0002521	Process	Leukocyte differentiation	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006325	Process	Chromatin organization	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	ISS
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031490	Function	Chromatin DNA binding	ISS
GO:0032825	Process	Positive regulation of natural killer cell differentiation	IEA
GO:0043373	Process	CD4-positive, alpha-beta T cell lineage commitment	IEA
GO:0043373	Process	CD4-positive, alpha-beta T cell lineage commitment	ISS
GO:0043375	Process	CD8-positive, alpha-beta T cell lineage commitment	IEA
GO:0043375	Process	CD8-positive, alpha-beta T cell lineage commitment	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048535	Process	Lymph node development	IEA
GO:0048541	Process	Peyer's patch development	IEA
GO:1902232	Process	Regulation of positive thymic T cell selection	IEA
GO:1902232	Process	Regulation of positive thymic T cell selection	ISS
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	ISS

Other IDs

• MIM: 606863
• HGNC: 18988
• e!Ensembl: ENSG00000198846

Protein

• UniProt ID: O94900
• Protein name: Thymocyte selection-associated high mobility group box protein TOX (Thymus high mobility group box protein TOX)
• Protein function: Transcriptional regulator with a major role in neural stem cell commitment and corticogenesis as well as in lymphoid cell development and lymphoid tissue organogenesis (By similarity). Binds to GC-rich DNA sequences in the proximity of transcrip
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	261 → 329	HMG (high mobility group) box	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in NK cells (PubMed:21126536). Highly expressed in tumor-infiltrating CD8-positive T cells (at protein level) (PubMed:31207604). {ECO:0000269|PubMed:21126536, ECO:0000269|PubMed:31207604}.
• Sequence:

  MDVRFYPPPAQPAAAPDAPCLGPSPCLDPYYCNKFDGENMYMSMTEPSQDYVPASQSYPG
  PSLESEDFNIPPITPPSLPDHSLVHLNEVESGYHSLCHPMNHNGLLPFHPQNMDLPEITV
  SNMLGQDGTLLSNSISVMPDIRNPEGTQYSSHPQMAAMRPRGQPADIRQQPGMMPHGQLT
  TINQSQLSAQLGLNMGGSNVPHNSPSPPGSKSATPSPSSSVHEDEGDDTSKINGGEKRPA
  SDMGKKPKTPKKKKKKDPNEPQKPVSAYALFFRDTQAAIKGQNPNATFGEVSKIVASMWD
  GLGEEQKQVYKKKTEAAKKEYLKQLAAYRASLVSKSYSEPVDVKTSQPPQLINSKPSVFH
  GPSQAHSALYLSSHYHQQPGMNPHLTAMHPSLPRNIAPKPNNQMPVTVSIANMAVSPPPP
  LQISPPLHQHLNMQQHQPLTMQQPLGNQLPMQVQSALHSPTMQQGFTLQPDYQTIINPTS
  TAAQVVTQAMEYVRSGCRNPPPQPVDWNNDYCSSGGMQRDKALYLT

• Sequence length: 526

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron-refractory iron deficiency anemia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	32700817	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Associate	33296081	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Associate	38054003	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	18446232, 22496870, 32757053	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	22496870	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	36042047	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	33428598	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	32393998	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	26139146	★☆☆☆☆ Found in Text Mining only
Diphtheria	Associate	34061794	★☆☆☆☆ Found in Text Mining only
Diphtheria	Stimulate	37042786	★☆☆☆☆ Found in Text Mining only
Endocarditis	Associate	37042786	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	32762688	★☆☆☆☆ Found in Text Mining only
Glioma	Inhibit	32762688	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Associate	34913594	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22496870	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Associate	35111387	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	31949884, 32757053, 33296081	★☆☆☆☆ Found in Text Mining only
Inflammation	Inhibit	38054003	★☆☆☆☆ Found in Text Mining only
Kashin Beck Disease	Associate	29242531	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	34211801, 37961948	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Stimulate	34913594	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Associate	22496870	★☆☆☆☆ Found in Text Mining only
Lymphoma	Associate	21562036, 25628470, 25991819, 27180090, 31676945	★☆☆☆☆ Found in Text Mining only
Lymphoma B Cell	Associate	27180090	★☆☆☆☆ Found in Text Mining only
Lymphoma B Cell Marginal Zone	Stimulate	27180090	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Associate	27180090	★☆☆☆☆ Found in Text Mining only
Lymphoma Large B Cell Diffuse	Associate	27180090	★☆☆☆☆ Found in Text Mining only
Lymphoma T Cell Cutaneous	Associate	25779945, 27180090, 27345620, 31676945, 33941102, 34220814, 36122387	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Associate	22377759, 24947046, 25779945, 25811617, 31676945, 33941102, 35642346, 36400759	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Stimulate	27345620, 31857520	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	35803246, 37957632	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22496870, 28489605, 31817155, 32393998, 32700817, 32757053, 32762688, 33941102, 35111387, 36434543, 36638785, 37961948, 38054003	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	35691410	★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Associate	27862604	★☆☆☆☆ Found in Text Mining only
NOG Related Symphalangism Spectrum Disorder	Associate	27766406	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	36434543	★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Associate	37042786	★☆☆☆☆ Found in Text Mining only
Sarcoma	Associate	36005179	★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Associate	25779945, 27766406, 28489605, 31676945	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Associate	24947046, 27345620, 34220814	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	33513276	★☆☆☆☆ Found in Text Mining only
T cell immunodeficiency primary	Stimulate	33513276	★☆☆☆☆ Found in Text Mining only
Thrombosis	Associate	36042047	★☆☆☆☆ Found in Text Mining only
Tuberculosis Pulmonary	Associate	23415668	★☆☆☆☆ Found in Text Mining only
Vitiligo	Associate	31857520	★☆☆☆☆ Found in Text Mining only