Gene Gene information from NCBI Gene database.
Entrez ID 6909
Gene name T-box transcription factor 2
Gene symbol TBX2
Synonyms (NCBI Gene)
VETD
Chromosome 17
Chromosome location 17q23.2
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 product is the human homolog
SNPs SNP information provided by dbSNP.
1
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.
343
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
94
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600747 11597 ENSG00000121068
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
61
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TBX2-related disorder Likely pathogenic; Pathogenic rs1603241575, rs1364709483 RCV003397371
RCV000625998
Vertebral anomalies and variable endocrine and T-cell dysfunction Likely pathogenic; Pathogenic rs2509518787, rs1364709483, rs2060258573 RCV003326673
RCV000723359
RCV001257454
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs140610908 RCV005907869
Hepatocellular carcinoma Benign; Likely benign rs140610908 RCV005907868
Lung cancer Likely benign rs368647415 RCV005904811
Microcephaly Uncertain significance rs763593217 RCV001252869
Associations from Text MiningDisease 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