TBX20 (T-box transcription factor 20)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 57057
Gene name T-box transcription factor 20
Gene symbol TBX20
Synonyms (NCBI Gene)
ASD4
Chromosome 7
Chromosome location 7p14.2
Summary This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development.
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs137852954 G>A,C,T Pathogenic Missense variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs137852955 G>A Pathogenic Stop gained, coding sequence variant, 5 prime UTR variant
rs267607106 G>C Pathogenic Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554284604 G>- Pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
102
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (102)
miRTarBase ID miRNA Experiments Reference
MIRT508673 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT508678 hsa-miR-5700 HITS-CLIP 21572407
MIRT508677 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT508676 hsa-miR-4728-3p HITS-CLIP 21572407
MIRT707848 hsa-miR-3613-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
90
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (90)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 19762328
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606061 11598 ENSG00000164532
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UMR3
Protein name T-box transcription factor TBX20 (T-box protein 20)
Protein function Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 102 → 288 T-box Domain
Sequence 
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTS
LDAHGEFGGGSGSSPSSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEM
IITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRYRYAYHRSSWLVAGKADPPLP
ARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESV
ESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQ
HPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPR
YHHYFQQGPYAAIQGLRHSSAVMTPFV
Sequence length 447
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
327
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic valve disease 1 Likely pathogenic; Pathogenic rs766692577 RCV000770948
Atrial septal defect 4 Pathogenic; Likely pathogenic rs137852955, rs267607106, rs2546994664, rs766692577 RCV000004896
RCV000004897
RCV003986018
RCV002272337
Cardiovascular phenotype Pathogenic; Likely pathogenic rs2128714664, rs1562567739, rs2546996539, rs2546997554, rs1790276091, rs2546997545, rs2546993178 RCV002370657
RCV002331636
RCV002373129
RCV002385405
RCV002421958
RCV003177147
RCV005288984
Hypoplastic left heart syndrome Pathogenic rs1554284604 RCV000656080
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs750770210 RCV004557979
Familial cancer of breast Benign; Likely benign rs147314121 RCV005869716
Left ventricular noncompaction Uncertain significance rs2546996336 RCV003991491
Malignant tumor of urinary bladder Uncertain significance rs754622149 RCV005931884
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 27738327
Aortic Aneurysm Thoracic Associate 30820038
Arrhythmias Cardiac Associate 38479330
Baetz Greenwalt syndrome Associate 31204705
Bicuspid Aortic Valve Disease Associate 30820038
Carcinogenesis Inhibit 35348274
Carcinoma Squamous Cell Associate 27738327
Cardiomyopathies Associate 17668378
Cardiomyopathy Dilated Associate 17668378, 28690296, 38479330
Cardiovascular Diseases Associate 30820038