TBX3

Description		T-box transcription factor 3
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Cilium
	Molecular Function	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding Sequence-specific DNA Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding Sequence-specific Double-stranded DNA Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Skeletal System Development Blood Vessel Development In Utero Embryonic Development Cell Fate Specification Heart Looping Heart Morphogenesis Outflow Tract Morphogenesis Atrioventricular Bundle Cell Differentiation Endocardial Cushion Formation DNA-templated Transcription Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Cell Population Proliferation Anterior/posterior Axis Specification, Embryo Animal Organ Morphogenesis Specification Of Animal Organ Position Stem Cell Population Maintenance Limbic System Development Male Genitalia Development Female Genitalia Development Negative Regulation Of Epithelial Cell Differentiation Mammary Gland Development Regulation Of Protein Stability Luteinizing Hormone Secretion Embryonic Heart Tube Development Limb Morphogenesis Embryonic Forelimb Morphogenesis Embryonic Hindlimb Morphogenesis Forelimb Morphogenesis Atrioventricular Canal Development Regulation Of Cell Population Proliferation Inner Ear Morphogenesis Embryonic Digit Morphogenesis Negative Regulation Of Apoptotic Process Negative Regulation Of Myoblast Differentiation Positive Regulation Of Cell Cycle Negative Regulation Of DNA-templated Transcription Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Follicle-stimulating Hormone Secretion Mesoderm Morphogenesis Semicircular Canal Morphogenesis Smooth Muscle Cell Differentiation Cardiac Muscle Cell Differentiation Roof Of Mouth Development Cardiac Epithelial To Mesenchymal Transition Ventricular Septum Morphogenesis Branching Involved In Mammary Gland Duct Morphogenesis Mammary Placode Formation Cardiac Muscle Cell Fate Commitment Sinoatrial Node Cell Development Hepatoblast Differentiation Regulation Of Protein Complex Stability Stem Cell Proliferation Ureteric Peristalsis Cellular Senescence Cardiac Jelly Development Atrioventricular Canal Morphogenesis Negative Regulation Of Cell Proliferation Involved In Heart Morphogenesis Positive Regulation Of Stem Cell Proliferation Negative Regulation Of Stem Cell Differentiation
Pathways		Transcriptional and post-translational regulation of MITF-M expression and activity
Drugs
Diseases		Ulnar-mammary syndrome; Schinzel syndrome
GWAS		Appendicular lean mass ( 33097823) Atrial fibrillation ( 29892015) Benign prostatic hyperplasia and lower urinary tract symptoms ( 30410027) Blood pressure ( 21572416 21909110) Bone mineral density (lumbar spine) in inflammatory bowel disease ( 29603369) Breast cancer ( 29059683) Childhood asthma exacerbations in long-acting beta2-agonist treatment ( 33706416) Colorectal cancer ( 23266556) Colorectal cancer or advanced adenoma ( 30510241) Diastolic blood pressure ( 27618452 27841878 26390057 28135244 29403010 19430479) Diastolic blood pressure (cigarette smoking interaction) ( 29455858) Diastolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test) ( 29912962) Diastolic blood pressure x alcohol consumption interaction (2df test) ( 29912962) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Electrocardiographic traits (multivariate) ( 32602732) Facial morphology ( 31763980) FEV1 ( 30804560) Global electrical heterogeneity phenotypes ( 29622589) Heel bone mineral density ( 30598549 28869591) Hematological and biochemical traits ( 31902109) Hypertension ( 30487518) Hypertrophic cardiomyopathy (sarcomere negative) ( 33495597) Idiopathic dilated cardiomyopathy ( 29495422) Left ventricular QRS voltage ( 27195777) Liver enzyme levels (gamma-glutamyl transferase) ( 33972514) Longevity ( 30294719) Lung function (FEV1) ( 26635082) Lung function (FVC) ( 28166213 30804560 26635082) Mean arterial pressure ( 29403010 30487518) Mean arterial pressure x alcohol consumption (light vs heavy) interaction (2df test) ( 29912962) Mean arterial pressure x alcohol consumption interaction (2df test) ( 29912962) Metabolite levels ( 23823483) Methadone dose in opioid dependence ( 28115739) Night sleep phenotypes ( 27126917) Nose morphology ( 29921221) Percent mammographic density ( 22532574) PR interval ( 20062060 30679814 32439900 25035420 30046033) PR segment duration ( 24850809) Prostate-specific antigen levels ( 28139693) QRS complex (12-leadsum) ( 27659466) QRS duration ( 27577874 30679814) Serum prostate-specific antigen levels ( 21160077) Systolic blood pressure ( 25249183 29403010 27618452 27841878) Systolic blood pressure (cigarette smoking interaction) ( 29455858) Systolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test) ( 29912962) Systolic blood pressure x alcohol consumption interaction (2df test) ( 29912962) Urate levels in overweight individuals ( 25811787)
Interacting Genes		14 interacting genes: CA8 CSF3 PFDN5 PLEKHF2 PRR20A PRR20B PRR20C PRR20D PRR20E SIRPA TLE5 TOLLIP UFSP1 ZNF34
Entrez ID		6926
HPRD ID		03373
Ensembl ID		ENSG00000135111
Uniprot IDs		O15119
PDB IDs		1H6F
Enriched GO Terms of Interacting Partners?
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