TBX18 T-box transcription factor 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBX18provided by HGNC
Official Full Name: T-box transcription factor 18provided by HGNC
Primary source: HGNC:HGNC:11595
See related: Ensembl:ENSG00000112837 MIM:604613; AllianceGenome:HGNC:11595
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PUJO; CAKUT2
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]
Expression: Broad expression in fat (RPKM 1.9), skin (RPKM 1.3) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q14.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (84732496..84764598, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (85949735..85981843, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (85442214..85474316, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TBX18 knockdown sensitizes esophageal squamous cell carcinoma to radiotherapy by blocking the CHN1/RhoA axis.
Title: TBX18 knockdown sensitizes esophageal squamous cell carcinoma to radiotherapy by blocking the CHN1/RhoA axis.
The role of TBX18 in congenital heart defects in humans not confirmed.
Title: The role of TBX18 in congenital heart defects in humans not confirmed.
MicroRNA-dependent suppression of biological pacemaker activity induced by TBX18.
Title: MicroRNA-dependent suppression of biological pacemaker activity induced by TBX18.
Tbx18 promoted the conversion of human-induced pluripotent stem cell-derived cardiomyocytes into sinoatrial node-like pacemaker cells.
Title: Tbx18 promoted the conversion of human-induced pluripotent stem cell-derived cardiomyocytes into sinoatrial node-like pacemaker cells.
TBX18 gene over expression induces human-induced pluripotent stem cells to differentiate into pacemaker-like cells.
Title: TBX18 transcription factor overexpression in human-induced pluripotent stem cells increases their differentiation into pacemaker-like cells.
Although TBX3 and TBX18 do not play a significant role in promoting the enrichment and differentiation of HiPS into sinoatrial node-like cells, TBX3 shows a certain promoting trend, which can be further explored in the future.
Title: [Role of over-expression of TBX3 and TBX18 in the enrichment and differentiation of human induced pluripotent stem cells into sinoatrial node-like cells].
Study identified and characterized new TBX18 binding partners that may influence the transcriptional activity of TBX18 in vivo. Proteomic screen strongly supports an exclusive nuclear function of TBX18 as a repressor of chromatin accessibility.
Title: Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins.
Tbx18-positive cells represent a part of PE cells in the initial phase of differentiation and subsequently include SMCs as well as fibroblasts. These results indicate that Tbx18-positive cells serve as a PE progenitor to supply a variety of cells that contribute to the formation of coronary arteries.
Title: Tbx18-positive cells differentiated from murine ES cells serve as proepicardial progenitors to give rise to vascular smooth muscle cells and fibroblasts.
Gene product expressions of SHH, TBX18 and TSHZ3 are statistically higher in patients with UPJ obstruction, when compared with control group. The explanation may be the reactivation of the processes, which had shown their effects in the embryological period, due to the chronic inflammation and long-term micro-trauma created by the disease
Title: Sonic hedgehog, TBX18, and TSHZ3 proteins involved in pyeloureteral motility development are overexpressed in ureteropelvic junction obstruction. An immunohistochemical, histopathological, and clinical comparative study.
Data indicate that human T-box 18 (TBX18) gene induces rat adipose-derived stem cells (ADSCs) to differentiate into pacemaker-like cells in the cardiac microenvironment.
Title: TBX18 gene induces adipose-derived stem cells to differentiate into pacemaker-like cells in the myocardial microenvironment.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital anomalies of kidney and urinary tract 2 MedGen: C5574705 OMIM: 143400 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1475 (e-PCR)
- UniSTS:72211

RH103106 (e-PCR)
- UniSTS:97440

D6S1627 (e-PCR), detects polymorphism
- UniSTS:31945

RH47634 (e-PCR)
- UniSTS:83158

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cochlea morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of embryonic epithelium	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural plate anterior/posterior regionalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of regulation of SA node cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sinoatrial node cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sinoatrial node cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sinoatrial node development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within smooth muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in somitogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within somitogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ureter development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription repressor complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: T-box transcription factor TBX18

Names: T-box 18; T-box protein 18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046956.1 RefSeqGene

Range

5133..37235

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080508.3 → NP_001073977.1 T-box transcription factor TBX18

See identical proteins and their annotated locations for NP_001073977.1

Status: REVIEWED

Source sequence(s)

AL035694, BC132715, BC157841

Consensus CDS

CCDS34495.1

UniProtKB/Swiss-Prot

A2RU13, O95935, Q7Z6U4, Q9UJI6

Related

ENSP00000358677.4, ENST00000369663.10

Conserved Domains (1) summary

cd00182
Location:139 → 334

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...