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TBX18 (T-box transcription factor 18)
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 nameGene Name - the full gene name approved by the HGNC.
T-box transcription factor 18
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TBX18
SynonymsGene synonyms aliases
CAKUT2, PUJO
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q14.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Transcription factor Regulation Reference
POU5F1 Repression 17068183
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Nephrotic syndrome Nephrotic Syndrome rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Renal dysplasia Renal Cell Dysplasia, Renal dysplasia rs387907123
Unknown
Disease name Disease term dbSNP ID References
Congenital megaureter Congenital dilatation of ureter
Hydronephrosis Hydronephrosis, Hydronephrosis Due To Pujo
Multicystic renal dysplasia Multicystic Dysplastic Kidney, MULTICYSTIC RENAL DYSPLASIA, BILATERAL
Renal hypoplasia Congenital hypoplasia of kidney rs561111097

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