TBX21 (T-box transcription factor 21)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 30009
Gene name T-box transcription factor 21
Gene symbol TBX21
Synonyms (NCBI Gene)
IMD88T-PETT-betTBETTBLYM
Chromosome 17
Chromosome location 17q21.32
Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mou
miRNA miRNA information provided by mirtarbase database.
26
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
miRTarBase ID miRNA Experiments Reference
MIRT007033 hsa-miR-29b-3p Luciferase reporter assay 22772450
MIRT1415137 hsa-miR-1289 CLIP-seq
MIRT1415138 hsa-miR-3198 CLIP-seq
MIRT1415139 hsa-miR-3942-3p CLIP-seq
MIRT1415140 hsa-miR-4294 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
Transcription factor Regulation Reference
NFKB1 Activation 17407192
RELA Activation 17407192
SP1 Unknown 17075044
STAT1 Unknown 18414429
STAT4 Unknown 19923468
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (51)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 18504404
GO:0000785 Component Chromatin IBA
GO:0000976 Function Transcription cis-regulatory region binding IDA 19805038
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604895 11599 ENSG00000073861
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UL17
Protein name T-box transcription factor TBX21 (T-box protein 21) (T-cell-specific T-box transcription factor T-bet) (Transcription factor TBLYM)
Protein function Lineage-defining transcription factor which initiates Th1 lineage development from naive Th precursor cells both by activating Th1 genetic programs and by repressing the opposing Th2 and Th17 genetic programs (PubMed:10761931). Activates transcr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 139 → 326 T-box Domain
Tissue specificity TISSUE SPECIFICITY: T-cell specific. {ECO:0000269|PubMed:10761931}.
Sequence 
MGIVEPGCGDMLTGTEPMPGSDEGRAPGADPQHRYFYPEPGAQDADERRGGGSLGSPYPG
GALVPAPPSRFLGAYAYPPRPQAAGFPGAGESFPPPADAEGYQPGEGYAAPDPRAGLYPG
PREDYALPAGLEVSGKLRVALNNHLLWSKFNQHQTEMIITKQGRRMFPFLSFTVAGLEPT
SHYRMFVDVVLVDQHHWRYQSGKWVQCGKAEGSMPGNRLYVHPDSPNTGAHWMRQEVSFG
KLKLTNNKGASNNVTQMIVLQSLHKYQPRLHIVEVNDGEPEAACNASNTHIFTFQETQFI
AVTAYQNAEITQLKIDNNPFAKGFRENFESMYTSVDTSIPSPPGPNCQFLGGDHYSPLLP
NQYPVPSRFYPDLPGQAKDVVPQAYWLGAPRDHSYEAEFRAVSMKPAFLPSAPGPTMSYY
RGQEVLAPGAGWPVAPQYPPKMGPASWFRPMRTLPMEPGPGGSEGRGPEDQGPPLVWTEI
APIRPESSDSGLGEGDSKRRRVSPYPSSGDSSSPAGAPSPFDKEAEGQFYNYFPN
Sequence length 535
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Th1 and Th2 cell differentiation
Th17 cell differentiation
Inflammatory bowel disease 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 88 Pathogenic rs2143417979 RCV001787024
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma and nasal polyps Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ASTHMA, ASPIRIN-INDUCED — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma, aspirin-induced, susceptibility to Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (195)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 24223457
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29615105
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36405736 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 Amelogenesis Imperfecta, X-Linked BEFREE 29358858
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 31465536
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 16434488 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 37980558 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioimmunoblastic Lymphadenopathy Angioimmunoblastic T-cell lymphoma BEFREE 30782609
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 27125523, 30687330
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia LHGDN 16434488
★★★★★
★☆☆☆☆
Found in Text Mining only