TOX2 (TOX high mobility group box family member 2)

Gene

• Entrez ID: 84969
• Gene name: TOX high mobility group box family member 2
• Gene symbol: TOX2
• Synonyms (NCBI Gene): C20orf100, GCX-1, GCX1, dJ1108D11.2, dJ495O3.1
• Chromosome: 20
• Chromosome location: 20q13.12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017087	hsa-miR-335-5p	Microarray	18185580
MIRT1447854	hsa-miR-1185	CLIP-seq
MIRT1447855	hsa-miR-1224-5p	CLIP-seq
MIRT1447856	hsa-miR-1294	CLIP-seq
MIRT1447857	hsa-miR-2278	CLIP-seq
MIRT1447858	hsa-miR-3605-5p	CLIP-seq
MIRT1447859	hsa-miR-3679-5p	CLIP-seq
MIRT1447860	hsa-miR-3689a-3p	CLIP-seq
MIRT1447861	hsa-miR-3689c	CLIP-seq
MIRT1447862	hsa-miR-3915	CLIP-seq
MIRT1447863	hsa-miR-3928	CLIP-seq
MIRT1447864	hsa-miR-4299	CLIP-seq
MIRT1447865	hsa-miR-4316	CLIP-seq
MIRT1447866	hsa-miR-4428	CLIP-seq
MIRT1447867	hsa-miR-4456	CLIP-seq
MIRT1447868	hsa-miR-4519	CLIP-seq
MIRT1447869	hsa-miR-4677-3p	CLIP-seq
MIRT1447870	hsa-miR-4689	CLIP-seq
MIRT1447871	hsa-miR-4728-5p	CLIP-seq
MIRT1447872	hsa-miR-502-5p	CLIP-seq
MIRT1447873	hsa-miR-541	CLIP-seq
MIRT1447874	hsa-miR-548q	CLIP-seq
MIRT1447875	hsa-miR-654-5p	CLIP-seq
MIRT1447854	hsa-miR-1185	CLIP-seq
MIRT1447856	hsa-miR-1294	CLIP-seq
MIRT2396213	hsa-miR-1587	CLIP-seq
MIRT2396214	hsa-miR-3135b	CLIP-seq
MIRT1447858	hsa-miR-3605-5p	CLIP-seq
MIRT2396215	hsa-miR-3652	CLIP-seq
MIRT1447859	hsa-miR-3679-5p	CLIP-seq
MIRT2396216	hsa-miR-3918	CLIP-seq
MIRT2396217	hsa-miR-4261	CLIP-seq
MIRT1447865	hsa-miR-4316	CLIP-seq
MIRT2396218	hsa-miR-4430	CLIP-seq
MIRT1447867	hsa-miR-4456	CLIP-seq
MIRT2396219	hsa-miR-4487	CLIP-seq
MIRT2396220	hsa-miR-4492	CLIP-seq
MIRT2396221	hsa-miR-4496	CLIP-seq
MIRT2396222	hsa-miR-4498	CLIP-seq
MIRT2396223	hsa-miR-4633-3p	CLIP-seq
MIRT2396224	hsa-miR-4640-5p	CLIP-seq
MIRT2396225	hsa-miR-4656	CLIP-seq
MIRT2396226	hsa-miR-4675	CLIP-seq
MIRT1447869	hsa-miR-4677-3p	CLIP-seq
MIRT2396227	hsa-miR-4685-5p	CLIP-seq
MIRT2396228	hsa-miR-4726-5p	CLIP-seq
MIRT2396229	hsa-miR-4731-5p	CLIP-seq
MIRT2396230	hsa-miR-4741	CLIP-seq
MIRT1447872	hsa-miR-502-5p	CLIP-seq
MIRT2396231	hsa-miR-548b-3p	CLIP-seq
MIRT2396232	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	25352127
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	25352127

Other IDs

• MIM: 611163
• HGNC: 16095
• e!Ensembl: ENSG00000124191

Protein

• UniProt ID: Q96NM4
• Protein name: TOX high mobility group box family member 2 (Granulosa cell HMG box protein 1) (GCX-1)
• Protein function: Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	255 → 304	HMG (high mobility group) box	Domain

• Sequence:

  MQQTRTEAVAGAFSRCLGFCGMRLGLLLLARHWCIAGVFPQKFDGDSAYVGMSDGNPELL
  STSQTYNGQSENNEDYEIPPITPPNLPEPSLLHLGDHEASYHSLCHGLTPNGLLPAYSYQ
  AMDLPAIMVSNMLAQDSHLLSGQLPTIQEMVHSEVAAYDSGRPGPLLGRPAMLASHMSAL
  SQSQLISQMGIRSSIAHSSPSPPGSKSATPSPSSSTQEEESEVHFKISGEKRPSADPGKK
  AKNPKKKKKKDPNEPQKPVSAYALFFRDTQAAIKGQNPSATFGDVSKIVASMWDSLGEEQ
  KQSSPDQGETKSTQANPPAKMLPPKQPMYAMPGLASFLTPSDLQAFRSGASPASLARTLG
  SKSLLPGLSASPPPPPSFPLSPTLHQQLSLPPHAQGALLSPPVSMSPAPQPPVLPTPMAL
  QVQLAMSPSPPGPQDFPHISEFPSSSGSCSPGPSNPTSSGDWDSSYPSGECGISTCSLLP
  RDKSLYLT

• Sequence length: 488

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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ 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	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22496870	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22496870	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22496870		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32393998	Stimulate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	37032358	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22496870	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	35111387	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22496870	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22496870		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22496870	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29796116	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28153336		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22496870		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22496870		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22496870		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37279148	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	28153336		★☆☆☆☆ Found in Text Mining only