Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9096
Gene name Gene Name - the full gene name approved by the HGNC.	T-box transcription factor 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TBX18
Synonyms (NCBI Gene) Gene synonyms aliases	CAKUT2, PUJO
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q14.3
Summary Summary of gene provided in NCBI Entrez Gene.	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-famil

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs760905589	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs797045022	T>C	Pathogenic	Coding sequence variant, missense variant
rs869320679	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041719	G>A	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, intron variant

Show/Hide all(137)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036442	hsa-miR-1226-3p	CLASH	23622248
MIRT713701	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT713700	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT553728	hsa-miR-6835-3p	PAR-CLIP	21572407
MIRT553727	hsa-miR-4422	PAR-CLIP	21572407
MIRT553726	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT553725	hsa-miR-646	PAR-CLIP	21572407
MIRT553723	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT553724	hsa-miR-4329	PAR-CLIP	21572407
MIRT553722	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT553721	hsa-miR-4775	PAR-CLIP	21572407
MIRT553720	hsa-miR-5591-3p	PAR-CLIP	21572407
MIRT553719	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT520786	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT520784	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT520784	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT553718	hsa-miR-449b-3p	PAR-CLIP	21572407
MIRT520785	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT520783	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT445904	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT520784	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT520786	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT520785	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT520784	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT520783	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT445904	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT445904	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT445903	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT445902	hsa-miR-1267	PAR-CLIP	22100165
MIRT445901	hsa-miR-8068	PAR-CLIP	22100165
MIRT445900	hsa-miR-5585-3p	PAR-CLIP	22100165
MIRT445899	hsa-miR-568	PAR-CLIP	22100165
MIRT445898	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT445897	hsa-miR-3149	PAR-CLIP	22100165
MIRT441842	hsa-miR-3668	PAR-CLIP	22100165
MIRT441840	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT441839	hsa-miR-3935	PAR-CLIP	22100165
MIRT441838	hsa-miR-376a-2-5p	PAR-CLIP	22100165
MIRT441837	hsa-miR-6516-3p	PAR-CLIP	22100165
MIRT441836	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT441835	hsa-miR-1206	PAR-CLIP	22100165
MIRT713701	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT713700	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT553728	hsa-miR-6835-3p	PAR-CLIP	21572407
MIRT553727	hsa-miR-4422	PAR-CLIP	21572407
MIRT553726	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT553725	hsa-miR-646	PAR-CLIP	21572407
MIRT553723	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT553724	hsa-miR-4329	PAR-CLIP	21572407
MIRT553722	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT553721	hsa-miR-4775	PAR-CLIP	21572407
MIRT553720	hsa-miR-5591-3p	PAR-CLIP	21572407
MIRT553719	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT520786	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT520784	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT520784	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT553718	hsa-miR-449b-3p	PAR-CLIP	21572407
MIRT520785	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT520783	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT445904	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT520784	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT520786	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT520785	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT520784	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT520783	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT445904	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT445904	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT445903	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT445902	hsa-miR-1267	PAR-CLIP	22100165
MIRT445901	hsa-miR-8068	PAR-CLIP	22100165
MIRT445900	hsa-miR-5585-3p	PAR-CLIP	22100165
MIRT445899	hsa-miR-568	PAR-CLIP	22100165
MIRT445898	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT445897	hsa-miR-3149	PAR-CLIP	22100165
MIRT441842	hsa-miR-3668	PAR-CLIP	22100165
MIRT441840	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT441839	hsa-miR-3935	PAR-CLIP	22100165
MIRT441838	hsa-miR-376a-2-5p	PAR-CLIP	22100165
MIRT441837	hsa-miR-6516-3p	PAR-CLIP	22100165
MIRT441836	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT441835	hsa-miR-1206	PAR-CLIP	22100165
MIRT1415075	hsa-miR-1303	CLIP-seq
MIRT1415076	hsa-miR-200b	CLIP-seq
MIRT1415077	hsa-miR-200c	CLIP-seq
MIRT1415078	hsa-miR-203	CLIP-seq
MIRT1415079	hsa-miR-205	CLIP-seq
MIRT1415080	hsa-miR-2278	CLIP-seq
MIRT1415081	hsa-miR-2355-5p	CLIP-seq
MIRT1415082	hsa-miR-3120-3p	CLIP-seq
MIRT1415083	hsa-miR-3154	CLIP-seq
MIRT1415084	hsa-miR-3179	CLIP-seq
MIRT1415085	hsa-miR-3591-3p	CLIP-seq
MIRT1415086	hsa-miR-3653	CLIP-seq
MIRT1415087	hsa-miR-3658	CLIP-seq
MIRT1415088	hsa-miR-3679-3p	CLIP-seq
MIRT1415089	hsa-miR-374c	CLIP-seq
MIRT1415090	hsa-miR-380	CLIP-seq
MIRT1415091	hsa-miR-3924	CLIP-seq
MIRT1415092	hsa-miR-4282	CLIP-seq
MIRT1415093	hsa-miR-429	CLIP-seq
MIRT1415094	hsa-miR-4506	CLIP-seq
MIRT1415095	hsa-miR-451	CLIP-seq
MIRT1415096	hsa-miR-4662a-3p	CLIP-seq
MIRT1415097	hsa-miR-4668-5p	CLIP-seq
MIRT1415098	hsa-miR-4720-3p	CLIP-seq
MIRT1415099	hsa-miR-4762-3p	CLIP-seq
MIRT1415100	hsa-miR-4762-5p	CLIP-seq
MIRT1415101	hsa-miR-4790-3p	CLIP-seq
MIRT1415102	hsa-miR-4804-3p	CLIP-seq
MIRT1415103	hsa-miR-624	CLIP-seq
MIRT1415104	hsa-miR-655	CLIP-seq
MIRT1415083	hsa-miR-3154	CLIP-seq
MIRT2124538	hsa-miR-3160-5p	CLIP-seq
MIRT2124539	hsa-miR-4279	CLIP-seq
MIRT2124540	hsa-miR-4790-5p	CLIP-seq
MIRT2346800	hsa-miR-1273f	CLIP-seq
MIRT2346801	hsa-miR-143	CLIP-seq
MIRT1415078	hsa-miR-203	CLIP-seq
MIRT1415085	hsa-miR-3591-3p	CLIP-seq
MIRT2346802	hsa-miR-3942-5p	CLIP-seq
MIRT2346803	hsa-miR-4703-5p	CLIP-seq
MIRT2346804	hsa-miR-4708-5p	CLIP-seq
MIRT2346805	hsa-miR-4729	CLIP-seq
MIRT2346806	hsa-miR-4770	CLIP-seq
MIRT2346807	hsa-miR-616	CLIP-seq
MIRT2639537	hsa-miR-2116	CLIP-seq
MIRT2639538	hsa-miR-4452	CLIP-seq
MIRT2639539	hsa-miR-4635	CLIP-seq
MIRT2639540	hsa-miR-4677-5p	CLIP-seq
MIRT2639541	hsa-miR-4789-5p	CLIP-seq
MIRT2639542	hsa-miR-526b	CLIP-seq
MIRT2639537	hsa-miR-2116	CLIP-seq
MIRT2639538	hsa-miR-4452	CLIP-seq
MIRT2639539	hsa-miR-4635	CLIP-seq
MIRT2639540	hsa-miR-4677-5p	CLIP-seq
MIRT2639541	hsa-miR-4789-5p	CLIP-seq
MIRT2639542	hsa-miR-526b	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
POU5F1	Repression	17068183

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001708	Process	Cell fate specification	IBA
GO:0001756	Process	Somitogenesis	IBA
GO:0001756	Process	Somitogenesis	ISS
GO:0003163	Process	Sinoatrial node development	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	26235987, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26235987
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IBA
GO:0021999	Process	Neural plate anterior/posterior regionalization	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0051145	Process	Smooth muscle cell differentiation	ISS
GO:0060930	Process	Sinoatrial node cell fate commitment	IMP	23242162
GO:0060931	Process	Sinoatrial node cell development	IMP	23242162
GO:0072189	Process	Ureter development	IMP	26235987
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0090571	Component	RNA polymerase II transcription repressor complex	ISS
GO:0098907	Process	Regulation of SA node cell action potential	IMP	23242162
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
604613	11595	ENSG00000112837

Protein

UniProt ID

O95935

Protein name

T-box transcription factor TBX18 (T-box protein 18)

Protein function

Acts as a transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00907	T-box	141 → 330	T-box	Domain

Sequence

MAEKRRGSPCSMLSLKAHAFSVEALIGAEKQQQLQKKRRKLGAEEAAGAVDDGGCSRGGG
AGEKGSSEGDEGAALPPPAGATSGPARSGADLERGAAGGCEDGFQQGASPLASPGGSPKG
SPARSLARPGTPLPSPQAPRVDLQGAELWKRFHEIGTEMIITKAGRRMFPAMRVKISGLD
PHQQYYIAMDIVPVDNKRYRYVYHSSKWMVAGNADSPVPPRVYIHPDSPASGETWMRQVI
SFDKLKLTNNELDDQGHIILHSMHKYQPRVHVIRKDCGDDLSPIKPVPSGEGVKAFSFPE
TVFTTVTAYQNQQITRLKIDRNPFAKGFRDSGRNRMGLEALVESYAFWRPSLRTLTFEDI
PGIPKQGNASSSTLLQGTGNGVPATHPHLLSGSSCSSPAFHLGPNTSQLCSLAPADYSAC
ARSGLTLNRYSTSLAETYNRLTNQAGETFAPPRTPSYVGVSSSTSVNMSMGGTDGDTFSC
PQTSLSMQISGMSPQLQYIMPSPSSNAFATNQTHQGSYNTFRLHSPCALYGYNFSTSPKL
AASPEKIVSSQGSFLGSSPSGTMTDRQMLPPVEGVHLLSSGGQQSFFDSRTLGSLTLSSS
QVSAHMV

Sequence length

607

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital anomalies of kidney and urinary tract	Congenital anomalies of kidney and urinary tract 2, Congenital anomaly of kidney and urinary tract	rs869320679, rs760905589, rs797045022	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
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.
Acne	acne vulgaris	N/A	N/A	GWAS
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Carpal Tunnel Syndrome	Carpal tunnel syndrome	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Myasthenia Gravis	Myasthenia gravis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37082886
Atherosclerosis	Associate	30529831
Cakut	Associate	26235987
Heart Defects Congenital	Associate	29904178
Multicystic renal dysplasia bilateral	Associate	26235987
Urologic Diseases	Associate	26235987

TBX18 (T-box transcription factor 18)