Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
- GeneCards Team
- Our Publications
- Citing GeneCards
- Licensing Agreement
- Weizmann Institute
- LifeMap Sciences Inc
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBX18 Gene

protein-coding GIFtS: 50
GCID: GC06M085400

T-Box 18

3 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
T-Box 18¹ ²
T-Box Protein 18² ³
T-Box Transcription Factor TBX18²

External Ids:	HGNC: 11595¹	Entrez Gene: 9096²	Ensembl: ENSG00000112837⁷	OMIM: 604613⁵	UniProtKB: O95935³

Export aliases for TBX18 gene to outside databases

Previous GC identifers: GC06U990171 GC06M085413 GC06M085393 GC06M085453 GC06M085500 GC06M082667 GC06M085398 GC06M085444

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TBX18 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-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)

GeneCards Summary for TBX18 Gene:

TBX18 (T-box 18) is a protein-coding gene. Diseases associated with TBX18 include hydronephrosis, and campomelic dysplasia. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX1.

UniProtKB/Swiss-Prot: TBX18_HUMAN, O95935

Function: Probable transcriptional regulator involved in developmental processes

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.2 NT_007299.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBX18 gene promoter:
AREB6 MEF-2A Ik-2 FOXO4 aMEF-2 Nkx2-5
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for TBX18

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX18

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q14-q15 Ensembl cytogenetic band: 6q14.3 HGNC cytogenetic band: 6q14.1-q15

TBX18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX18 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M085400: view genomic region (about GC identifiers)

Start:	85,397,069 bp from pter	End:	85,474,237 bp from pter
Size:	77,169 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBX18_HUMAN, O95935 (See protein sequence)

Recommended Name: T-box transcription factor TBX18

Size: 607 amino acids; 64753 Da

Subcellular location: Nucleus (Potential)

Secondary accessions: A2RU13 Q7Z6U4 Q9UJI6

Explore the universe of human proteins at neXtProt for TBX18: NX_O95935

Explore proteomics data for TBX18 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_O95935

TBX18 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_001073977.1

ENSEMBL proteins:

ENSP00000475873 ENSP00000358677 ENSP00000475498 ENSP00000476137

Human Recombinant Protein Products for TBX18:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for TBX18 OriGene Custom MassSpec OriGene Custom Protein Services for TBX18
	GenScript Custom Purified and Recombinant Proteins Services for TBX18
	Novus Biologicals TBX18 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for TBX18

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--

TBX18 for ontologies About GeneDecksing

TBX18 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TBX18
	R&D Systems Antibodies for TBX18
	Browse OriGene Antibodies OriGene Custom Antibody Services for TBX18
	GenScript Custom Superior Antibodies Services for TBX18
	Novus Biologicals TBX18 Antibodies
	Abcam antibodies for TBX18
	Cloud-Clone Corp. Antibodies for TBX18
	Search ThermoFisher Antibodies for TBX18
	LSBio Antibodies in human, mouse, rat for TBX18

Assay Products for TBX18:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for TBX18
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TBX18
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for TBX18 Cloud-Clone Corp. CLIAs for TBX18

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

TBX: T-boxes

3 InterPro protein domains:

IPR001699 TF_T-box

IPR008967 p53-like_TF_DNA-bd

IPR018186 TF_T-box_CS

Graphical View of Domain Structure for InterPro Entry O95935

ProtoNet protein and cluster: O95935

1 Blocks protein domain: IPB001699 Transcription factor

UniProtKB/Swiss-Prot: TBX18_HUMAN, O95935

Similarity: Contains 1 T-box DNA-binding domain

TBX18 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TBX18_HUMAN, O95935

Function: Probable transcriptional regulator involved in developmental processes

Genatlas biochemistry entry for TBX18:

murine T-box gene Tbx18 (T,brachyury) homolog

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	--
GO:0001106	RNA polymerase II transcription corepressor activity	ISS	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	--	--
GO:0042803	protein homodimerization activity	ISS	--

TBX18 for ontologies About GeneDecksing

Phenotypes:
10 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Tbx18):

cardiovascular system	craniofacial	embryogenesis	growth/size	integument
mortality/aging	nervous system	no phenotypic analysis	renal/urinary system	skeleton

TBX18 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for TBX18

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBX18

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX18
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX18 (see all 16):
		hsa-miR-21* hsa-miR-3163 hsa-miR-205 hsa-miR-3614-3p hsa-miR-944 hsa-miR-410 hsa-miR-421 hsa-miR-33a*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for TBX18
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX18
		Sirion Biotech Custom design and validation of potent shRNA sequences against TBX18

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for TBX18
			Sirion Biotech Customized adenovirus for overexpression of TBX18 Customized adenovirus for potent knockdown of TBX18

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for TBX18 (see all 7) OriGene ORF clones in mouse, rat for TBX18 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TBX18 (NM_001080508)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX18
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX18

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TBX18
		Search LifeMap BioReagents cell lines for TBX18
		Sirion Biotech Customized stable knockdown cell line services for TBX18 Customized inducible knockdown cell line services for TBX18 Customized stable overexpressing cell line services for TBX18 Customized inducible overexpressing cell line services for TBX18

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX18

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for TBX18 About

See pathways by source

SuperPath

Contained pathways About

Selected targets of Oct-3/4

Selected targets of Oct-3/4

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for TBX18

Selected targets of Oct-3/4

TBX18 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TBX18

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	--
GO:0001756	somitogenesis	IEA	--
GO:0002053	positive regulation of mesenchymal cell proliferation	--	--
GO:0003163	sinoatrial node development	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--

TBX18 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TBX18

Search CenterWatch for drugs/clinical trials and news about TBX18

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TBX18 gene:

NM_001080508.2

Unigene Cluster for TBX18:

T-box 18

Hs.251830 [show with all ESTs]

Unigene Representative Sequence: NM_001080508

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000330469 ENST00000606784 ENST00000369663(uc010kbq.2 uc003pkl.1)

ENST00000607343 ENST00000606521 ENST00000606325 ENST00000606621

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX18
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX18 (see all 16):
		hsa-miR-21* hsa-miR-3163 hsa-miR-205 hsa-miR-3614-3p hsa-miR-944 hsa-miR-410 hsa-miR-421 hsa-miR-33a*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for TBX18
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX18
		Sirion Biotech Custom design and validation of potent shRNA sequences against TBX18

Clone Products:		OriGene clones in human, mouse for TBX18 (see all 7) OriGene ORF clones in mouse, rat for TBX18 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TBX18 (NM_001080508)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX18
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX18

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for TBX18
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TBX18
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX18
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX18

Additional mRNA sequence:

AJ010278.1 AK310179.1 BC040697.2 BC132715.1 BC157841.1

8 DOTS entries:

DT.40238800 DT.308320 DT.91850592 DT.100707679 DT.121344141 DT.75114827 DT.121381838 DT.92047601

11 AceView cDNA sequences:

AL703333 H88260 CB962166 BI492230 AI470177 BM453888 AW023646 CB963170

H88049 AA331457 H89010

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TBX18 expression in normal human tissues (normalized intensities) TBX18 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCAGAAAGAA

About this image

TBX18 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/14 selected tissues (see all 14) fully expand


Heart (Cardiovascular System) fully expand to see all 6 entries
Epicardial Progenitors Cells Epicardium

Bone (Muscoskeletal System) fully expand to see all 3 entries
Mesenchymal Condensate Cells Zeugopod
sensory organ/ear/inner ear

Eye (Sensory Organs) fully expand to see all 3 entries
sensory organ/eye/perioptic mesenchyme

Mesoderm (Gastrulation Derivatives) fully expand to see all 2 entries
Septum Transversum Mesenchyme Cells Septum Transversum
Septum Transversum

Cartilage (Muscoskeletal System) fully expand to see all 2 entries
Mesenchymal Condensate Cells Zeugopod
sensory organ/ear/inner ear

See TBX18 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBX18

SOURCE GeneReport for Unigene cluster: Hs.251830

SABiosciences Custom PCR Arrays for TBX18

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for TBX18
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TBX18
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX18
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX18

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX18

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TBX18 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tbx18^{1 , 5}	T-box18^{1, 5}	88.36(n)¹ 94.56(a)¹		9 (47.06 cM)⁵ 76365¹ NM_023814.4¹ NP_076303.3¹ 87702800⁵
chicken (Gallus gallus)	Aves	TBX18¹	T-box 18	80.09(n) 87.78(a)		395104 NM_204453.1 NP_989784.1
lizard (Anolis carolinensis)	Reptilia	TBX18⁶	T-box 18	83(a)	1 ↔ 1	1(196863916-196906983)
zebrafish (Danio rerio)	Actinopterygii	tbx18²	T-box 18	73.67(n)		246223 AF448503.2
worm (Caenorhabditis elegans)	Secernentea	mab-9¹	Protein MAB-9	51.63(n) 50(a)		173441 NM_061349.5 NP_493750.1

ENSEMBL Gene Tree for TBX18 (if available)
TreeFam Gene Tree for TBX18 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TBX18 gene

TBX1² TBX22² TBX19² T² EOMES² TBX2² TBX6² TBX21²

TBX20² TBX3² TBX5² TBX15² TBR1² TBX10² TBX4²

15 SIMAP similar genes for TBX18 using alignment to 2 protein entries: TBX18_HUMAN (see all proteins):

TBX15 TBX22 TBX4 TBR1 TBX2 DKFZp762H2012

MGA TBX20 TBX10 EOMES T TBX6

TBX19 TBX5 TBX1

TBX18 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79618899^1,2	C	untested¹	85457739(+)	`AAGATC/TGTCTC`	2	N D	mis¹		1		NA	180
rs3920516^1,2	C,F,A	--	85441903(+)	`AAAAAT/CGTTCT`	1	--	ds500¹		7		NA WA EA	500
rs78764025^1,2	C,F	--	85441907(+)	`ATGTTC/TTAAAA`	1	--	ds500¹		1		EA	120
rs2206947^1,2	C,F,A	--	85441982(+)	`AATAGA/GTGAAT`	1	--	ds500¹		3		WA NA EA	358
rs148182658^1,2	C	--	85442088(+)	`AAAATA/GTGGAT`	1	--	ds500¹		0	--	--	--	--
rs1621530^1,2	C,F,H	--	85442211(+)	`CACAAG/TTGTTT`	1	--	ds500¹		28		NS EA NA WA CSA	2768
rs141151832^1,2	C	--	85442523(+)	`TTTGTA/GAAGCC`	1	--	ut3¹		0	--	--	--	--
rs34431533^1,2	C	--	85442539(+)	`TATAT-/TAATATA`	1	--	ut3¹		0	--	--	--	--
rs60865736^1,2	C	--	85442555(+)	`TATAT-/AT/TC CCAAA`	2	--	ut3¹		0	--	--	--	--
rs150897194^1,2		--	85442768(+)	`ATCCAC/TAGTCT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TBX18 (85397069 - 85474237 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for TBX18: --

Human Gene Mutation Database (HGMD): TBX18

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX18

DNA2.0 Custom Variant and Variant Library Synthesis for TBX18

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TBX18 for disorders           About GeneDecksing

OMIM gene information: 604613    OMIM disorders: --

3 diseases for TBX18:    About MalaCards

hydronephrosis campomelic dysplasia renal agenesis

1 disease from the University of Copenhagen DISEASES database for TBX18:

Hydronephrosis

Genetic Association Database (GAD): TBX18

Export disorders for TBX18 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TBX18 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with TBX18)

Utopia: connect your pdf to the dynamic
world of online information

Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19. (PubMed id 9888994)^{1, 2, 3} Yi C.-H.... Brook J.D. (1999)
Direct conversion of quiescent cardiomyocytes to pacem aker cells by expression of Tbx18. (PubMed id 23242162)^{1, 3} Kapoor N....Cho H.C. (2013)
T-genes and limb bud development. (PubMed id 16688725)^{1, 3} King M....Morrow B.E. (2006)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Transcriptional suppression of connexin43 by TBX18 un dermines cell-cell electrical coupling in postnatal cardiomyocytes. (PubMed id 21205823)¹ Kapoor N....Cho H.C. (2011)
Setting the pace: Tbx3 and Tbx18 in cardiac conduction system development. (PubMed id 19213963)¹ McNally E.M. and Svensson E.C. (2009)
Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)⁴ Kiel D.P....Karasik D. (2007)
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)⁴ Seshadri S....Wolf P.A. (2007)
A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)⁴ Kathiresan S....Cupples L.A. (2007)
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)⁴ Fox C.S....Atwood L.D. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9096	HGNC: 11595	AceView: TBX18.1	Ensembl:ENSG00000112837	euGenes: HUgn9096
ECgene: TBX18	H-InvDB: TBX18

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TBX18	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TBX18 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TBX18 gene:
Search GeneIP for patents involving TBX18

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

	Browse Kits and Assays available from EMD Millipore
	EMD Millipore Mono- and Polyclonal Antibodies for the study of TBX18
	Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
	Browse for Gene Knock-down Tools from EMD Millipore
	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse Small Molecules at EMD Millipore

	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Antibodies for TBX18 (TBX18)		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Protease Activity Assays and Reagents		Browse Recombinant/Natural Proteins
	Browse Stem Cell Products		Browse Tocris Biochemicals & Compounds
	Browse cDNA Clones		Browse Proteome Profiler Antibody Arrays

	Browse OriGene Antibodies		OriGene RNAi products in human, mouse, rat for TBX18
	Browse OriGene qPCR primer pairs and template standards		OriGene Protein Over-expression Lysate for TBX18
	OriGene Custom Mass Spec		OriGene clones in human, mouse for TBX18
	OriGene qSTAR qPCR primer pairs in human, mouse for TBX18		Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
	OriGene ORF clones in mouse, rat for TBX18		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for TBX18		OriGene Custom Protein Services for TBX18

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBX18
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX18
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX18
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX18
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX18
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX18

	GenScript Custom Purified and Recombinant Proteins Services for TBX18		GenScript cDNA clones with any tag delivered in your preferred vector for TBX18
	GenScript Custom Assay Services for TBX18		GenScript Custom Superior Antibodies Services for TBX18
	GenScript Custom overexpressing Cell Line Services for TBX18		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in TBX18 promoter
	Search Chromatin IP Primers for TBX18
	RT² qPCR Primer Assay in human, mouse, rat TBX18
	GNC Network for TBX18
	SABiosciences Custom PCR Arrays for TBX18

Search Tocris compounds for TBX18

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological Cell Lysates
	Browse Sino Biological cDNA Clones
	4000+ Proteins
	Search Sino Biological for antibodies, proteins & pathways
	Protein Production Services
	Transfection Reagents
	Protein A/G/L resins
	Isotyping reagents

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	TBX18 antibodies
	TBX18 lysates

	Antibodies for TBX18
	See all of Abcam's Antibodies, Kits and Proteins for TBX18
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

	Proteins for TBX18
	Antibodies for TBX18
	ELISAs for TBX18
	CLIAs for TBX18

Search LifeMap BioReagents cell lines for TBX18

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX18

	Browse SwitchGear 3'UTR luciferase reporter plasmids for TBX18
	Browse SwitchGear Promoter luciferase reporter plasmids for TBX18

Search ThermoFisher Antibodies for TBX18

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX18

	inGenious Targeting Laboratory - Custom generated mouse model solutions for TBX18
	inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBX18

Customized:

	stable knockdown cell line services for TBX18
	inducible knockdown cell line services for TBX18
	design and validation of potent shRNA sequences against TBX18
	adenovirus for potent knockdown of TBX18
	stable overexpressing cell line services for TBX18
	inducible overexpressing cell line services for TBX18
	adenovirus for overexpression of TBX18

LSBio Antibodies in human, mouse, rat for TBX18

GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013

View Random Gene

Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes TBX18 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

TBX18 Gene

T-Box 18

Aliases
for TBX18 gene

Summaries
for TBX18 gene

Genomic Views
for TBX18 gene

Proteins
for TBX18 gene

Protein Domains /
Families
for TBX18 gene

Function
for TBX18 gene

Pathways & Interactions
for TBX18 gene

Drugs & Compounds
for TBX18 gene

Transcripts
for TBX18 gene

Expression
for TBX18 gene

Orthologs
for TBX18 gene

Paralogs
for TBX18 gene

Genomic Variants
for TBX18 gene

Disorders / Diseases
for TBX18 gene

Publications
for TBX18 gene

External Searches for TBX18 gene

Genome Databases showing TBX18 gene

Other Databases showing TBX18 gene

Specialized Databases showing TBX18 gene

Intellectual Property
for TBX18 gene

Products
for TBX18 gene

View Random Gene

Advanced Search

Export list of displayed genes

TBX18 Gene

T-Box 18

Aliasesfor TBX18 gene

Summariesfor TBX18 gene

Genomic Viewsfor TBX18 gene

Proteinsfor TBX18 gene

Protein Domains /Familiesfor TBX18 gene

Functionfor TBX18 gene

Pathways & Interactionsfor TBX18 gene

Drugs & Compoundsfor TBX18 gene

Transcriptsfor TBX18 gene

Expression for TBX18 gene

Orthologsfor TBX18 gene

Paralogsfor TBX18 gene

Genomic Variantsfor TBX18 gene

Disorders / Diseasesfor TBX18 gene

Publicationsfor TBX18 gene

External Searches for TBX18 gene

Genome Databases showing TBX18 gene

Other Databases showing TBX18 gene

Specialized Databases showing TBX18 gene

Intellectual Propertyfor TBX18 gene

Productsfor TBX18 gene

View Random Gene

Aliases
for TBX18 gene

Summaries
for TBX18 gene

Genomic Views
for TBX18 gene

Proteins
for TBX18 gene

Protein Domains /
Families
for TBX18 gene

Function
for TBX18 gene

Pathways & Interactions
for TBX18 gene

Drugs & Compounds
for TBX18 gene

Transcripts
for TBX18 gene

Expression
for TBX18 gene

Orthologs
for TBX18 gene

Paralogs
for TBX18 gene

Genomic Variants
for TBX18 gene

Disorders / Diseases
for TBX18 gene

Publications
for TBX18 gene

Intellectual Property
for TBX18 gene

Products
for TBX18 gene