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TBX1
Description
T-box transcription factor 1
Image
GO Annotations
Cellular Component
Chromatin
Nucleus
Molecular Function
RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding
DNA-binding Transcription Factor Activity, RNA Polymerase II-specific
DNA-binding Transcription Factor Activity
Protein Binding
Protein Homodimerization Activity
Sequence-specific DNA Binding
Sequence-specific Double-stranded DNA Binding
Biological Process
Angiogenesis
Blood Vessel Development
Cell Fate Specification
Neural Crest Cell Migration
Positive Regulation Of Protein Phosphorylation
Lymph Vessel Development
Positive Regulation Of Mesenchymal Cell Proliferation
Heart Morphogenesis
Outflow Tract Septum Morphogenesis
Outflow Tract Morphogenesis
Regulation Of Transcription By RNA Polymerase II
Determination Of Left/right Symmetry
Pattern Specification Process
Mesoderm Development
Heart Development
Muscle Organ Development
Sensory Perception Of Sound
Cell Population Proliferation
Positive Regulation Of Cell Population Proliferation
Anterior/posterior Pattern Specification
Vagus Nerve Morphogenesis
Epithelial Cell Differentiation
Thyroid Gland Development
Social Behavior
Aorta Morphogenesis
Ear Morphogenesis
Inner Ear Morphogenesis
Outer Ear Morphogenesis
Middle Ear Morphogenesis
Odontogenesis Of Dentin-containing Tooth
Muscle Cell Fate Commitment
Positive Regulation Of MAPK Cascade
Tongue Morphogenesis
Cellular Response To Fibroblast Growth Factor Stimulus
Negative Regulation Of Cell Differentiation
Positive Regulation Of Transcription, DNA-templated
Positive Regulation Of Transcription By RNA Polymerase II
Retinoic Acid Receptor Signaling Pathway
Blood Vessel Morphogenesis
Thymus Development
Muscle Organ Morphogenesis
Embryonic Cranial Skeleton Morphogenesis
Embryonic Viscerocranium Morphogenesis
Semicircular Canal Morphogenesis
Artery Morphogenesis
Positive Regulation Of Epithelial Cell Proliferation
Parathyroid Gland Development
Soft Palate Development
Pharyngeal System Development
Face Morphogenesis
Muscle Tissue Morphogenesis
Coronary Artery Morphogenesis
Enamel Mineralization
Cellular Response To Retinoic Acid
Cochlea Morphogenesis
Mesenchymal Cell Apoptotic Process
Regulation Of Animal Organ Morphogenesis
Positive Regulation Of Tongue Muscle Cell Differentiation
Negative Regulation Of Mesenchymal Cell Apoptotic Process
Pathways
Drugs
Diseases
Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
Conotruncal heart malformations, including: Double-outlet right ventricle; Persistent truncus arteriosus; Conotruncal anomaly face syndrome
Velocardiofacial syndrome
GWAS
Acute kidney injury in critical illness (
27576016
)
Adolescent idiopathic scoliosis (
31417091
)
Childhood ear infection (
27182965
28928442
)
DNA methylation (parent-of-origin) (
23725790
)
Interleukin-10 levels (
22205395
)
Myringotomy (
28928442
)
Prostate cancer (
25217961
)
Rheumatoid arthritis (
30891314
)
Schizophrenia (
26198764
)
Tonsillectomy (
27182965
28928442
)
Novel Interacting Genes
2 novel interacting genes:
MORC3
PRODH
Interacting Genes
Entrez ID
6899
HPRD ID
09069
Ensembl ID
ENSG00000184058
Uniprot IDs
D9ZGG0
O43435
Q152R5
PDB IDs
4A04
Enriched GO Terms of Interacting Partners
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