Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6909
Gene name Gene Name - the full gene name approved by the HGNC.
T-box transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBX2
Synonyms (NCBI Gene) Gene synonyms aliases
VETD
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 product is the human homolog
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1555877071 G>A Uncertain-significance, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022554 hsa-miR-124-3p Microarray 18668037
MIRT037721 hsa-miR-744-5p CLASH 23622248
MIRT616088 hsa-miR-6801-3p HITS-CLIP 19536157
MIRT616087 hsa-miR-6810-3p HITS-CLIP 19536157
MIRT616086 hsa-miR-331-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 11062467, 11111039, 30599067
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 12000749
GO:0000785 Component Chromatin IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600747 11597 ENSG00000121068
Protein
UniProt ID Q13207
Protein name T-box transcription factor TBX2 (T-box protein 2)
Protein function Transcription factor which acts as a transcriptional repressor (PubMed:11062467, PubMed:11111039, PubMed:12000749, PubMed:22844464, PubMed:30599067). May also function as a transcriptional activator (By similarity). Binds to the palindromic T si
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 107 287 T-box Domain
PF12598 TBX 305 384 T-box transcription factor Family
Tissue specificity TISSUE SPECIFICITY: Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary.
Sequence
MREPALAASAMAYHPFHAPRPADFPMSAFLAAAQPSFFPALALPPGALAKPLPDPGLAGA
AAAAAAAAAAAEAGLHVSALGPHPPAAHLRSLKSLEPEDEVEDDPKVTLEAKELWDQFHK
LGTEMVITKSGRRMFPPFKVRVSGLDKKAKYILLMDIVAADDCRYKFHNSRWMVAGKADP
EMPKRMYIHPDSPATGEQWMAKPVAFHKLKLTNNISDKHGFTILNSMHKYQPRFHIVRAN
DILKLPYSTFRTYVFPETDFIAVTAYQNDKITQLKIDNNPFAKGFRD
TGNGRREKRKQLT
LPSLRLYEEHCKPERDGAESDASSCDPPPAREPPTSPGAAPSPLRLHRARAEEKSCAADS
DPEPERLSEERAGAPLGRSPAPDS
ASPTRLTEPERARERRSPERGKEPAESGGDGPFGLR
SLEKERAEARRKDEGRKEAAEGKEQGLAPLVVQTDSASPLGAGHLPGLAFSSHLHGQQFF
GPLGAGQPLFLHPGQFTMGPGAFSAMGMGHLLASVAGGGNGGGGGPGTAAGLDAGGLGPA
ASAASTAAPFPFHLSQHMLASQGIPMPTFGGLFPYPYTYMAAAAAAASALPATSAAAAAA
AAAGSLSRSPFLGSARPRLRFSPYQIPVTIPPSTSLLTTGLASEGSKAAGGNSREPSPLP
ELALRKVGAPSRGALSPSGSAKEAANELQSIQRLVSGLESQRALSPGRESPK
Sequence length 712
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Vertebral anomalies and variable endocrine and T-cell dysfunction vertebral anomalies and variable endocrine and t-cell dysfunction rs1364709483 N/A
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
Coronary artery disease Coronary artery disease N/A N/A GWAS
Gout Gout N/A N/A GWAS
Hypertension Hypertension, Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension N/A N/A GWAS
Kidney Disease Chronic kidney disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36461127
Alveolar capillary dysplasia Associate 37821225
Alzheimer Disease Associate 36895559
Breast Neoplasms Associate 11774034, 19469638, 24113180, 24742492, 30777332, 31253870, 35687133
Carcinoma Hepatocellular Associate 28981677
Carcinoma Non Small Cell Lung Inhibit 30866410
Carcinoma Non Small Cell Lung Associate 36461127
Carcinoma Renal Cell Associate 38070142
Carcinoma Squamous Cell Associate 36478592
Cleft Palate Associate 31204702