TBX1 (T-box transcription factor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6899
Gene name Gene Name - the full gene name approved by the HGNC.
T-box transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBX1
Synonyms (NCBI Gene) Gene synonyms aliases
CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
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 product shares 98% amino aci
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
SNP ID Visualize variation Clinical significance Consequence
rs28939675 T>A Pathogenic Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs74315522 C>G Pathogenic Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs144848597 G>A,C,T Pathogenic Coding sequence variant, stop gained, missense variant
rs753613632 C>T Conflicting-interpretations-of-pathogenicity Intron variant, coding sequence variant, missense variant
rs766608075 C>T Conflicting-interpretations-of-pathogenicity Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(74)
miRTarBase ID miRNA Experiments Reference
MIRT041674 hsa-miR-484 CLASH 23622248
MIRT037556 hsa-miR-744-5p CLASH 23622248
MIRT035924 hsa-miR-1180-3p CLASH 23622248
MIRT1415060 hsa-miR-1279 CLIP-seq
MIRT1415061 hsa-miR-3673 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(83)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin ISA
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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602054 11592 ENSG00000184058
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O43435
Protein name T-box transcription factor TBX1 (T-box protein 1) (Testis-specific T-box protein)
Protein function Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2
PDB 4A04
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 112 → 297 T-box Domain
Sequence 
MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA
PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW
DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL
VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR
FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP
EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE
LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC
Sequence length 398
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)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
DiGeorge Syndrome digeorge syndrome rs1555895466 N/A
Conotruncal Anomaly Face Syndrome conotruncal anomaly face syndrome rs28939675, rs1601294362 N/A
Show/Hide Unknown Diseases (8)
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
Breast Cancer Breast cancer N/A N/A GWAS
Conotruncal heart defect conotruncal heart malformations N/A N/A GenCC
Hypoplastic Left Heart Syndrome hypoplastic left heart syndrome N/A N/A ClinVar
Nasal polyposis Nasal polyps N/A N/A GWAS
Show/Hide Text Mining Associations (81)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
16p11.2 Deletion Syndrome Associate 36553582
22q11 Deletion Syndrome Inhibit 17028864
Acute Kidney Injury Associate 27576016
Adenocarcinoma Stimulate 22611028
Adenoma Inhibit 28920943
Anhedonia Associate 17622328, 21796729
Bone Neoplasms Associate 24232574
Breast Neoplasms Associate 24815864, 27702820, 28621227, 33734319, 34919666
Camptodactyly 1 Inhibit 28920943
Carcinoma Adenoid Cystic Associate 24504414, 30453543