Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84969
Gene name Gene Name - the full gene name approved by the HGNC.
TOX high mobility group box family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TOX2
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf100, GCX-1, GCX1, dJ1108D11.2, dJ495O3.1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611163 16095 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
KQSS
PDQGETKSTQANPPAKMLPPKQPMYAMPGLASFLTPSDLQAFRSGASPASLARTLG
SKSLLPGLSASPPPPPSFPLSPTLHQQLSLPPHAQGALLSPPVSMSPAPQPPVLPTPMAL
QVQLAMSPSPPGPQDFPHISEFPSSSGSCSPGPSNPTSSGDWDSSYPSGECGISTCSLLP
RDKSLYLT
Sequence length 488
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Sarcoidosis Sarcoidosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 22496870
Carcinogenesis Associate 22496870
Colorectal Neoplasms Stimulate 32393998
GATA2 Deficiency Associate 37032358
Hereditary Breast and Ovarian Cancer Syndrome Associate 22496870
Hodgkin Disease Associate 35111387
Inflammation Associate 22496870
Leukemia Lymphocytic Chronic B Cell Associate 34362918
Lung Diseases Associate 22496870
Lung Neoplasms Inhibit 22496870