TBX18 - T-box transcription factor 18 Gene

Also Known as CAKUT2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9096

About TBX18

Cytogenetic location: 6q14.3 Genomic coordinates (GRCh38): 6:84,732,496-84,764,598 (from NCBI)

This gene has 7 transcripts (splice variants), 206 orthologues, 16 paralogues and is associated with 2 phenotypes. Broad expression in fat (RPKM 1.9), skin (RPKM 1.3) and 17 other tissues.

Summary

This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with Other transcription factors of the T-box family or Other transcription factors. [provided by RefSeq, Nov 2012]

TBX18 Products (1)

mRNA	Protein	Name
NM_001080508.3	NP_001073977.1	T-box transcription factor TBX18

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26235987	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of regulation of SA node cell action potential	IMP IMP: Inferred from mutant phenotype	23242162	GOA
involved in sinoatrial node cell development	IMP IMP: Inferred from mutant phenotype	23242162	GOA
involved in sinoatrial node cell fate commitment	IMP IMP: Inferred from mutant phenotype	23242162	GOA
involved in ureter development	IMP IMP: Inferred from mutant phenotype	26235987	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	26235987	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBX18 Protein Structure

T-box

0
100
200
300
400
500
607 a.a.

Protein Preferred Names	Protein Names
T-box transcription factor TBX18	T-box 18

TBX18 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TBX18	O95935	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Prey Pooling	32296183
Intra	TBX18	O95935	KRTAP8-1	Homo sapiens	Q8IUC2	Validated Y2H	32296183
Intra	TBX18	O95935	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Array	32296183
Intra	TBX18	O95935	TRAF1	Homo sapiens	Q13077	Validated Y2H	32296183
Intra	TBX18	O95935	TRAF1	Homo sapiens	Q13077	Y2H Array	32296183
Intra	TBX18	O95935	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	32296183
Intra	TBX18	O95935	ARC	Homo sapiens	Q7LC44	Y2H Array	32296183
Intra	TBX18	O95935	ARC	Homo sapiens	Q7LC44	Validated Y2H	32296183
Intra	TBX18	O95935	ARC	Homo sapiens	Q7LC44	Y2H Prey Pooling	32296183
Intra	TBX18	O95935	PLEKHG4	Homo sapiens	Q58EX7	Y2H Prey Pooling	32296183
Intra	TBX18	O95935	PLEKHG4	Homo sapiens	Q58EX7	Validated Y2H	32296183
Intra	TBX18	O95935	PLEKHG4	Homo sapiens	Q58EX7	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

TBX18 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810956	TBX18 Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Congenital Anomalies Of Kidney And Urinary Tract 2	CAKUT2 Ureteropelvic Junction Obstruction Multicystic Renal Dysplasia, Bilateral Pelviureteric Junction Obstruction Pujo Hydronephrosis Due To Pujo Upjo Mcrd Congenital Anomalies Of The Kidney And Urinary Tract 2 Mrd Pelvi-Ureteric Junction Obstruction Kidney And Urinary Tract, Anomalies, Congenital, Type 2 Obstruction Of Pelviureteric Junction
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Posterior Urethral Valves	Posterior Urethral Valve Congenital Posterior Urethral Valves Puv
Anomalous Left Coronary Artery From The Pulmonary Artery	Bland White Garland Syndrome Alcapa Bland-White-Garland Syndrome White-Garland Syndrome
Posterior Cerebral Artery Infarction	Infarction, Posterior Cerebral Artery
Ulnar-Mammary Syndrome	Schinzel Syndrome UMS Pallister Ulnar-Mammary Syndrome Ulnar-Mammary Syndrome Of Pallister
Anterior Cerebral Artery Infarction	Infarction, Anterior Cerebral Artery
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Holt-Oram Syndrome	HOS Atriodigital Dysplasia Heart-Hand Syndrome Atrio-Digital Syndrome Cardiac-Limb Syndrome Heart-Hand Syndrome, Type 1 Ventriculo-Radial Syndrome Hos1 Heart Hand Syndrome Atrio Digital Syndrome Hos 1 Atriodigital Dysplasia Type 1 Heart-Hand Syndrome Type 1 Holt Oram Syndrome
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Prune Belly Syndrome	Eagle-Barrett Syndrome Abdominal Muscle Deficiency Syndrome PBS Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism Egbrs Eagle-Barret Syndrome Urethral Obstruction Sequence Obrinsky Syndrome Triad Syndrome Obrisnksy Syndrome Euos Early Urethral Obstruction Sequence Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism Abdomen Muscle Deficiency Syndrome Abdomen Muscular Deficiency Syndrome Abdominal Muscular Deficiency Syndrome Abdominal Muscle Aplasia Syndrome
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Hydronephrosis	Stricture Of Ureteropelvic Junction With Hydronephrosis Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14273	TBX18 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22847	Tbx18 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29361	Tbx18 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TBX18	VGNC	VGNC:53810
Canis familiaris	TBX18	VGNC	VGNC:57235
Rattus norvegicus	TBX18	RGD	RGD:1309856
Macaca mulatta	TBX18	VGNC	VGNC:78269
Felis catus	TBX18	VGNC	VGNC:102533
Mus musculus	TBX18	MGD	MGI:1923615
Others	TBX18	NCBI