TBX18 - T-box transcription factor 18 Gene

Homo sapiens

Also known as CAKUT2

Gene ID: 9096 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14273	TBX18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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