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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBX3 Gene

protein-coding GIFtS: 60
GCID: GC12M115108

T-box 3

(Previous name: ulnar mammary syndrome )
(Previous symbol: UMS)

Explore 19 diseases affiliated with
TBX3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
T-Box 3¹ ²		T-Box Protein 3² ³
TBX3-ISO¹ ²		Ulnar Mammary Syndrome¹
UMS¹ ²		Bladder Cancer Related Protein XHL²
XHL¹ ²		T-Box Transcription Factor TBX3²

External Ids:	HGNC: 11602¹	Entrez Gene: 6926²	Ensembl: ENSG00000135111⁷	OMIM: 601621⁵	UniProtKB: O15119³

Export aliases for TBX3 gene to outside databases

Previous GC identifers: GC12M114019 GC12M114628 GC12M114890 GC12M113520 GC12M113570 GC12M112116

(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 TBX3:

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the

T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is

a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb.

Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital

development. Alternative splicing of this gene results in three transcript variants encoding different isoforms;

however, the full length nature of one variant has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119

Function: Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern

formation

Gene Wiki entry for TBX3

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009775.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBX3 gene promoter:
Max1 FAC1 FOXF2 HNF-4alpha2 Nkx2-5 HNF-4alpha1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TBX3 promoter sequence

Search SABiosciences Chromatin IP Primers for TBX3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX3

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

Entrez Gene cytogenetic band: 12q24.1 Ensembl cytogenetic band: 12q24.21 HGNC cytogenetic band: 12q24.1

TBX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX3 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M115108: view genomic region (about GC identifiers)

Start:	115,108,059 bp from pter	End:	115,121,969 bp from pter
Size:	13,911 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119 (See protein sequence)

Recommended Name: T-box transcription factor TBX3

Size: 743 amino acids; 79389 Da

Subcellular location: Nucleus (Potential)

1 PDB 3D structure from and Proteopedia for TBX3:

1H6F (3D)

Secondary accessions: Q8TB20 Q9UKF8

Alternative splicing: 4 isoforms: O15119-1 O15119-2 O15119-3 O15119-4 (May be produced by joining exon 1 to exon 7 thereby eliminating the T-box)

Explore the universe of human proteins at neXtProt for TBX3: NX_O15119

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15119

TBX3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_005987.3 NP_057653.3

ENSEMBL proteins:

ENSP00000257567 ENSP00000257566

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
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	Novus Biologicals TBX3 Protein Novus Biologicals TBX3 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TBX3

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	IDA	11689487

TBX3 for ontologies About GeneDecksing

TBX3 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TBX3
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	Novus Biologicals TBX3 Antibodies
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	Uscn Antibodies for TBX3
	Search ThermoFisher Antibodies for TBX3

Assay Products for TBX3:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for TBX3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TBX3

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

TBX3 for domains About GeneDecksing

4 InterPro domains/families:

IPR001699 TF_T-box

IPR008967 p53-like_TF_DNA-bd

IPR018186 TF_T-box_CS

IPR022582 TBX

Graphical View of Domain Structure for InterPro Entry O15119

ProtoNet protein and cluster: O15119

1 Blocks protein family: IPB001699 Transcription factor

UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119

Similarity: Contains 1 T-box DNA-binding domain

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

Function Summary:

UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119

Function: Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern

formation

Genatlas biochemistry entry for TBX3:

murine T-box gene Tbx3 (T,brachyury)homolog,putative transcription factor,pairing with TBX5,homolog to Drosophila

optomotor-blind gene (omb),involved in optic lobe and wing development,involved in developmental regulation,expressed

in anterior and posterior mouse limb buds,widely expressed in adults

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TBX3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX3
		8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX3 (see all 43):
		hsa-miR-106a hsa-miR-25 hsa-miR-519a hsa-miR-3622b-3p hsa-miR-93 hsa-miR-520g hsa-miR-526b* hsa-miR-92b

		SwitchGear 3'UTR luciferase reporter plasmid: TBX3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX3 (see all 7) OriGene shRNA RFP: TBX3 OriGene siRNA: TBX3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TBX3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX3 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX3 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): TBX3 (NM_005996)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TBX3
		LifeMap BioReagents: cell line associated with TBX3: PureStem Z11, Meso Progenitor

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX3

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001085	RNA polymerase II transcription factor binding	ISS	--
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IDA	11689487

TBX3 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for TBX3: Tbx3^tm1Jcib Tbx3^tm1Pa
     14 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Tbx3):

cardiovascular system	craniofacial	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	homeostasis/metabolism	integument	limbs/digits/tail	liver/biliary system
mortality/aging	normal	reproductive system	skeleton

TBX3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Selected targets of Oct-3/4

Selected targets of Oct-3/4

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for TBX3

Selected targets of Oct-3/4

TBX3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TBX3

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/7 Interacting proteins for TBX3 (O15119^{2, 3} ENSP00000257566⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HDAC3	O15379³, ENSP00000302967⁴	I2D: score=1 STRING: ENSP00000302967
HDAC1	Q13547³, ENSP00000362649⁴	I2D: score=1 STRING: ENSP00000362649
HDAC2	Q92769³, ENSP00000381331⁴	I2D: score=1 STRING: ENSP00000381331
HDAC5	Q9UQL6³, ENSP00000225983⁴	I2D: score=1 STRING: ENSP00000225983
TOLLIP	Q9H0E2³, ENSP00000314733⁴	I2D: score=3 STRING: ENSP00000314733

About this table

Gene Ontology (GO): 5/42 biological process terms (GO ID links to tree view) (see all 42): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0001501	skeletal system development	IMP	9207801
GO:0001568	blood vessel development	IEA	--
GO:0001701	in utero embryonic development	IEA	--
GO:0001947	heart looping	IEA	--

TBX3 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, 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 TBX3
Search CenterWatch for drugs/clinical trials and news about TBX3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, 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 TBX3 gene (2 alternative transcripts):

NM_005996.3 NM_016569.3

Unigene Cluster for TBX3:

T-box 3

Hs.744016 [show with all ESTs]

Unigene Representative Sequence: NM_016569

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

ENST00000349155(uc001tvt.1 uc001tvu.1) ENST00000257566 ENST00000548503

ENST00000552054(uc010syw.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TBX3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX3
		8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX3 (see all 43):
		hsa-miR-106a hsa-miR-25 hsa-miR-519a hsa-miR-3622b-3p hsa-miR-93 hsa-miR-520g hsa-miR-526b* hsa-miR-92b

		SwitchGear 3'UTR luciferase reporter plasmid: TBX3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX3 (see all 7) OriGene shRNA RFP: TBX3 OriGene siRNA: TBX3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX3 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX3 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): TBX3 (NM_005996)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBX3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TBX3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX3

Additional cDNA sequence:

AF002228.1 AF074999.1 AF140240.1 AF170708.2 AF216750.1 AK054604.1 AK075457.1 AK304639.1

AY034105.1 BC025258.1

10 DOTS entries:

DT.216500 DT.91980610 DT.105635 DT.121181995 DT.40126465 DT.121181998 DT.75153637 DT.92436721

DT.121181994 DT.95268862

24/263 AceView cDNA sequences (see all 263):

AI200223 AI004151 AK075457 BV177985 AA248661 AV702518 AI200118 BM997578

BQ015077 AI199409 NM_005996 AI186625 AI347688 R66728 BF447203 AI183433

BC025258 BE348263 AK130978 AI499622 CB048970 BQ188072 CR618062 BF002728

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for TBX3 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b
SP1:
SP2:					-

ECgene alternative splicing isoforms for TBX3

(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

TBX3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGTATATT

About this image

TBX3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Selective marker (cell-identifying gene)

Myocardium

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Heart

Sinoatrial Node

Sinoatrial Node Cells

Myocardium

Myocardium

Primitive Heart Tube Cells

Myocardium

Limb

Limb Bud

Limb Bud Mesenchyme Cells

Mesoderm

Liver

Distal Mesodermal Progenitor Cells

Lung

Limb

Zeugopod

Prechondrocytic Mesenchymal Cells

Bone, Cartilage

Liver

Liver Lobule

Perivenous Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Endoderm progenitor-like cells (Generation and expan...)

Epiblast-like cells (Reconstitution of mo...)

Primitive gut tube-like cells (A scalable, suspensi...)

See TBX3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBX3

SOURCE GeneReport for Unigene cluster: Hs.744016

UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119

Tissue specificity: Widely expressed

SABiosciences Expression via Pathway-Focused PCR Arrays including TBX3:

Cellular Senescence in human mouse rat

Apoptosis 384HT in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBX3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX3

(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 TBX3 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TBX3¹	T-box 3	76.52(n) 82.39(a)		374202 XM_001234534.2 XP_001234535.2
lizard (Anolis carolinensis)	Reptilia	TBX3⁶	--	97(a)	1 ↔ 1	LGb(3261791-3267839)
African clawed frog (Xenopus laevis)	Amphibia	Tbx3²	transcription factor Tbx3	75.29(n)		AB032942.1
zebrafish (Danio rerio)	Actinopterygii	tbx3¹	T-box 3	72.22(n) 76.02(a)		556870 NM_001101670.2 NP_001095140.2
fruit fly (Drosophila melanogaster)	Insecta	bi³	transcription factor	78(a) (best of 5)		--
worm (Caenorhabditis elegans)	Secernentea	tbx-2³	--	69(a) (best of 2)		III(5203006-5204637) --

ENSEMBL Gene Tree for TBX3 (if available)
TreeFam Gene Tree for TBX3 (if available)

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

Paralogs for TBX3 gene

TBX1² TBX22² TBX19² T² EOMES² TBX2² TBX6² TBX21²

TBX20² TBX5² TBX10² TBX4² TBR1² TBX15² TBX18²

2 SIMAP similar genes for TBX3 using alignment to 1 protein entry: TBX3_HUMAN:

DKFZp762H2012 TBX2

TBX3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894376^1,2	C	pathogenic	112124296(-)	`AGTTAA/TAAATA`	4	K *	stg¹		0	--	--	--	--
rs75443349^1,2		--	112116456(+)	`TTTTCG/AACTTG`	2	--	ds500¹		1		WA	118
rs61933121^1,2	C,F,	--	112117151(+)	`ACTAGC/TAAATA`	2	--	ut3¹		3		NA	124
rs12580748^1,2	C,F,H	--	112117517(+)	`ATTAAG/AGTTTA`	2	--	ut3¹		1		NA	4
rs3741695^1,2	C,H,	--	112117744(+)	`ATCCCC/TCCCTC`	2	--	ut3¹ trp³		3		NA EA	246
rs3741697^1,2	C,F,	--	112117920(+)	`ACACAG/CATTTT`	2	--	ut3¹		2		EA	1584
rs3741699^1,2	C,	--	112118094(+)	`TTGTTG/TTTGTT`	2	--	ut3¹		0	--	--	--	--
rs79564336^1,2	C,	--	112118359(+)	`GAGTCC/TGNNNN`	2	--	ut3¹		4		CSA NA EA	243
rs11835270^1,2	C,H	--	112119088(+)	`TGTGTG/TTTTTT`	2	--	int¹ trp³		0	--	--	--	--
rs112067158^1,2		--	112119635(+)	`GAAGCC/TGAGGT`	2	--	int¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for TBX3 (115108059 - 115121969 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TBX3: --
Human Gene Mutation Database (HGMD): TBX3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX3

DNA2.0 Custom Variant and Variant Library Synthesis for TBX3

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

TBX3 for disorders           About GeneDecksing

OMIM gene information: 601621
OMIM disorders: 181450
UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119

Defects in TBX3 are the cause of ulnar-mammary syndrome (UMS) [MIM:181450]. UMS is characterized by ulnar ray

defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands

19 diseases for TBX3: About MalaCards

ulnar-mammary syndrome mayer-rokitansky-kuster-hauser syndrome rokitansky-kuster-hauser syndrome holt-oram syndrome

murcs association delayed puberty digeorge syndrome atrial fibrillation

essential hypertension brachydactyly adult syndrome breast cancer

liver cancer hypertension pharyngitis blindness

melanoma neuronitis carcinoma

6 Novoseek disease relationships for TBX3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ulnar-mammary syndrome	98.9	23	9207801 (2), 12668170 (2), 11689487 (2), 16896345 (2) (see all 17)
holt-oram syndrome	84.6	1	9611267 (1)
digeorge syndrome	59.8	1	12668595 (1)
hypoplasia	40.2	1	16955224 (1)
cancer	9.37	7	16049973 (2), 18534921 (1), 19052953 (1), 20033428 (1) (see all 6)
breast cancer	7.76	16	18245468 (5), 15289316 (4), 16049973 (2)

Human Genome Epidemiology (HuGE) Navigator: TBX3 (10 documents)

Export disorders for TBX3 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)
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PubMed articles for TBX3 gene, integrated from 9 sources (see all 77):
(articles sorted by number of sources associating them with TBX3)

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The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. (PubMed id 10330342)^{1, 2, 9} Bamshad M.... Jorde L.B. (1999)
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. (PubMed id 9207801)^{1, 2, 9} Bamshad M.... Jorde L.B. (1997)
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. (PubMed id 12005433)^{1, 2, 9} Coll M.... Muller C.W. (2002)
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. (PubMed id 10468588)^{1, 2, 9} He M.-L.... Rao Y. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. (PubMed id 8988164)^{1, 3} Li Q.Y.... Brook J.D. (1997)
TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. (PubMed id 15289316)^{1, 9} Fan W....Huang T. (2004)
TBX3 is overexpressed in breast cancer and represses p14 ARF by interacting with histone deacetylases. (PubMed id 18245468)^{1, 9} Yarosh W....Huang T. (2008)
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. (PubMed id 11689487)^{1, 9} Carlson H....Hurlin P.J. (2001)
Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells. (PubMed id 16955224)^{1, 9} Lee H.S....Jung J.S. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6926	HGNC: 11602	AceView: TBX3	Ensembl:ENSG00000135111	euGenes: HUgn6926
ECgene: TBX3	H-InvDB: TBX3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TBX3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TBX3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX3

Intellectual Property for TBX3 gene
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