Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6910
Gene name Gene Name - the full gene name approved by the HGNC.
T-box transcription factor 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBX5
Synonyms (NCBI Gene) Gene synonyms aliases
HOS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HOS
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.21
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 is closely linked to related
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894377 C>A Pathogenic Coding sequence variant, stop gained
rs104894378 C>G,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs104894379 G>A,C,T Pathogenic Coding sequence variant, stop gained, synonymous variant
rs104894381 C>T Pathogenic Coding sequence variant, missense variant
rs104894382 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018791 hsa-miR-335-5p Microarray 18185580
MIRT1415302 hsa-miR-2355-3p CLIP-seq
MIRT1415303 hsa-miR-3119 CLIP-seq
MIRT1415304 hsa-miR-342-3p CLIP-seq
MIRT1415305 hsa-miR-4639-3p CLIP-seq
Transcription factors
Transcription factor Regulation Reference
NKX2-5 Unknown 15095414
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 26926761
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 29174768
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601620 11604 ENSG00000089225
Protein
UniProt ID Q99593
Protein name T-box transcription factor TBX5 (T-box protein 5)
Protein function DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:26917986, PubMed:27035640, PubMed:29174768, PubMed:8988164). Binds to
PDB 2X6U , 2X6V , 4S0H , 5BQD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 56 238 T-box Domain
Sequence
MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHE
RELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNK
WSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ
PRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRG
SD
DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGP
SQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQ
QQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDR
LPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPG
TLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS
Sequence length 518
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    YAP1- and WWTR1 (TAZ)-stimulated gene expression
Physiological factors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic valve disease AORTIC VALVE DISEASE 2 rs104894378, rs104894382, rs387907283, rs863223788, rs863223786, rs863223777, rs878853750, rs886041247, rs1057516042, rs1057520136, rs863223776, rs1555226420, rs1060503154, rs1555225344, rs1555225989
View all (18 more)
16917909, 10077612, 11555635, 12499378, 8988164, 16183809, 20519243, 21637475, 8988165, 10077762, 17534187, 25500235, 12789647, 15710732, 25931334
View all (1 more)
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
29892015, 28416822, 28416818, 30061737, 22544366
Atrial septal defect Atrial Septal Defects, ATRIAL SEPTAL DEFECT 1 rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Atrioventricular block First degree atrioventricular block rs766840243, rs763809932
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 30061737, 29892015 ClinVar
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Schizophrenia Schizophrenia GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 26783083
Adenocarcinoma of Lung Associate 26035298, 34238250, 34558724
Adrenocortical Carcinoma Associate 34238250
Aortic Coarctation Associate 30834692
Arrhythmias Cardiac Associate 23717681, 25725155, 26762269
Arthritis Rheumatoid Stimulate 28782180
Ataxia Associate 12789647
Atrial Fibrillation Associate 23717681, 26267381, 26762269, 26917986, 27479212, 29459676, 29545482, 33350184
Atrial Standstill Associate 23717681
Atrioventricular Block Associate 23717681