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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBX10 Gene

protein-coding GIFtS: 51
GCID: GC11M067398

T-box 10

(Previous name: T-box 7 )
(Previous symbol: TBX7)

Explore 6 diseases affiliated with
TBX10 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 10¹ ²		T-Box Protein 10² ³
TBX7¹ ² ³		T-Box Transcription Factor TBX10²
TBX13¹ ²		T-Box-Containing Transcriptional Activator²
T-Box 7¹ ²

External Ids:	HGNC: 11593¹	Entrez Gene: 347853²	Ensembl: ENSG00000167800⁷	OMIM: 604648⁵	UniProtKB: O75333³

Export aliases for TBX10 gene to outside databases

Previous GC identifers: GC11M069922 GC11M069095 GC11M067648 GC11M067174 GC11M067157 GC11M063728

(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 TBX10:

This gene encodes a member of the T-box family of transcription factors. These transcription factors share a

DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell

fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought

to be a cause of isolated cleft lip with or without cleft palate. (provided by RefSeq, Nov 2010)

UniProtKB/Swiss-Prot: TBX10_HUMAN, O75333

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

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBX10 gene promoter:
E47 Meis-1b GATA-1 CREB HEN1 PPAR-gamma1 Hand1 Meis-1a PPAR-gamma2 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TBX10 promoter sequence

Search SABiosciences Chromatin IP Primers for TBX10

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX10

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

Entrez Gene cytogenetic band: 11q13.2 Ensembl cytogenetic band: 11q13.2 HGNC cytogenetic band: 11q13.2

TBX10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX10 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M067398: view genomic region (about GC identifiers)

Start:	67,398,774 bp from pter	End:	67,407,031 bp from pter
Size:	8,258 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: TBX10_HUMAN, O75333 (See protein sequence)

Recommended Name: T-box transcription factor TBX10

Size: 385 amino acids; 42341 Da

Subcellular location: Nucleus (Potential)

Sequence caution: Sequence=AAC23481.1; Type=Erroneous gene model prediction;

Secondary accessions: Q14D64 Q86XS3

Explore the universe of human proteins at neXtProt for TBX10: NX_O75333

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75333

TBX10 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005986.2

ENSEMBL proteins:

ENSP00000335191

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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	IEA	--

TBX10 for ontologies About GeneDecksing

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

TBX10 for domains About GeneDecksing

3 InterPro domains/families:

IPR001699 TF_T-box

IPR008967 p53-like_TF_DNA-bd

IPR018186 TF_T-box_CS

Graphical View of Domain Structure for InterPro Entry O75333

ProtoNet protein and cluster: O75333

1 Blocks protein family: IPB001699 Transcription factor

UniProtKB/Swiss-Prot: TBX10_HUMAN, O75333

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: TBX10_HUMAN, O75333

Function: Probable transcriptional regulator involved in developmental processes

Genatlas biochemistry entry for TBX10:

murine T-box gene Tbx10 (T,brachyury),expressed in brain,ovary,uterus,pituitary and fetal kidney,involved in

developmental regulation

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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--

TBX10 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TBX10:

Increased HPV18 LCR reporter a

Animal Models:
11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tbx10):

behavior/neurological	craniofacial	digestive/alimentary	growth/size	hearing/vestibular/ear
integument	mortality/aging	nervous system	normal	pigmentation
vision/eye

TBX10 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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TBX10

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	9545502
GO:0009653	anatomical structure morphogenesis	TAS	9545502

TBX10 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

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Browse Tocris compounds for TBX10
Search CenterWatch for drugs/clinical trials and news about TBX10

(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,
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About This Section

REFSEQ mRNAs for TBX10 gene:

NM_005995.4

Unigene Cluster for TBX10:

T-box 10

Hs.454480 [show with all ESTs]

Unigene Representative Sequence: AY229977

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000335385(uc001omp.3)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX10

Additional cDNA sequence:

AY229977.1 BC113485.1 BC113487.1

1 DOTS entry:

DT.40235507

8 AceView cDNA sequences:

NM_005995 AY229977 BX106997 AW401421 BF507660 BE868561 AI674138 AA552158

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

TBX10 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACTTCATCC

About this image

TBX10 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TBX10 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBX10

SOURCE GeneReport for Unigene cluster: Hs.454480

SABiosciences Custom PCR Arrays for TBX10

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In Situ
Assay Products:

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(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 TBX10 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TBX10¹	T-box 10	72.94(n) 71.96(a)		428814 XM_426372.2 XP_426372.2
lizard (Anolis carolinensis)	Reptilia	TBX10⁶	--	73(a)	1 ↔ 1	1(93405876-93411919)
zebrafish (Danio rerio)	Actinopterygii	CABZ01088935.1⁶ tbx1⁶	T-box 1	55(a) 46(a)	possible ortholog 1 ↔ many	15(9432-11025) 5(16906410-16919398)
fruit fly (Drosophila melanogaster)	Insecta	org-1⁶	optomotor-blind-related-gene-1	22(a)	1 → many	X(8342266-8348327)
worm (Caenorhabditis elegans)	Secernentea	mls-1⁶	Mesodermal Lineage Specification family member (ml...	41(a)	possible ortholog	III(7460276-7461866)

ENSEMBL Gene Tree for TBX10 (if available)
TreeFam Gene Tree for TBX10 (if available)

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

Paralogs for TBX10 gene

TBX1² TBX22² TBX19² T² EOMES² TBX2² TBX6² TBX21²

TBX3² TBX20² TBX5² TBX4² TBR1² TBX15² TBX18²

14 SIMAP similar genes for TBX10 using alignment to 1 protein entry: TBX10_HUMAN:

TBX1 MGA TBX18 TBX4 T TBX15

TBX6 TBX5 EOMES TBR1 TBX20 TBX22

DKFZp762H2012 TBX2

TBX10 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 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs60521870^1,2	C,F,	--	67399462(+)	`CAAGTT/GACCTA`	1	--	int¹		3		WA CSA	122
rs139060534^1,2		--	67399481(+)	`CCTTCA/GCCTTT`	1	--	int¹		0	--	--	--	--
rs1551884^1,2	C,F,A,	--	67399601(+)	`cacccC/Gctgcc`	1	--	int¹		10		NA CSA WA EA	373
rs113017938^1,2		--	67399689(+)	`GGGTTC/TGCTGA`	1	--	int¹		3		CSA WA	121
rs2514021^1,2	C,H,	--	67399735(+)	`TGCCTC/TCCGCC`	1	--	int¹		14		NA WA CSA EA	379
rs77714040^1,2	C,F,	--	67399752(+)	`GTACAC/ACTTAG`	1	--	int¹		1		EA	120
rs200673151^1,2		--	67399799(+)	`TCCCTA/GTCTGT`	2	D	syn¹		0	--	--	--	--
rs189317053^1,2	C,	--	67399869(+)	`GGGGCC/TGTGGG`	2	Q R	mis¹		0	--	--	--	--
rs150090306^1,2	C,	--	67399903(+)	`AGAAT-/GGGGGG`	1	--	int¹		0	--	--	--	--
rs11227869^1,2	C,F,	--	67399914(+)	`GAGGGG/TATCAA`	1	--	int¹ trp³		10		NA WA CSA EA	372

HapMap Linkage Disequilibrium report for TBX10 (67398774 - 67407031 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for TBX10
2 CNVs: 53128 5275
Human Gene Mutation Database (HGMD): TBX10

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX10

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

TBX10 for disorders           About GeneDecksing

OMIM gene information: 604648    OMIM disorders: --

6 diseases for TBX10:    About MalaCards

cleft lip cleft palate cleft lip/palate digeorge syndrome

pharyngitis blindness

2 diseases from the University of Copenhagen DISEASES database for TBX10:

Cleft lip Cleft palate

Genetic Association Database (GAD): TBX10
Human Genome Epidemiology (HuGE) Navigator: TBX10 (6 documents)

Export disorders for TBX10 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 TBX10 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with TBX10)

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

TBX10, a member of the Tbx1-subfamily of conserved developmental genes, is located at human chromosome 11q13 and proximal mouse chromosome 19. (PubMed id 9545502)^{1, 2, 3} Law D.J.... Silver L.M. (1998)
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. (PubMed id 16247549)^{1, 4} Ichikawa E....Yoshiura K. (2006)
Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)^{1, 4} Vieira A.R.... Murray J.C. (2005)
The T-box gene Tbx10 exhibits a uniquely restricted expression pattern during mouse embryogenesis. (PubMed id 12915323)^{1, 2} Bush J.O.... Jiang R. (2003)
Association between genetic variants of reported cand idate genes or regions and risk of cleft lip with or without cleft palate in th e polish population. (PubMed id 20544801)¹ Mostowska A....Jagodzinski P.P. (2010)
Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)¹ Jugessur A....Murray J.C. (2010)
MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PubMed id 20572854)¹ JagomAogi T....Metspalu A. (2010)
Genetic variants in COL2A1, COL11A2, and IRF6 contrib ute risk to nonsyndromic cleft palate. (PubMed id 20672350)¹ Nikopensius T....Metspalu A. (2010)
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. (PubMed id 15703190)¹ Stoller J.Z. and Epstein J.A. (2005)
T-box genes in vertebrate development. (PubMed id 16285859)¹ Naiche L.A....Papaioannou V.E. (2005)

(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: 347853	HGNC: 11593	AceView: TBX10	Ensembl:ENSG00000167800	euGenes: HUgn347853
ECgene: TBX10	H-InvDB: TBX10

(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 TBX10	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TBX10 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TBX10 gene:
Search GeneIP for patents involving TBX10

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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	Browse OriGene Antibodies		OriGene shRNA RFP for TBX10
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX10		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBX10
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBX10
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX10
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX10
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX10
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX10
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX10

	GenScript Custom Purified and Recombinant Proteins Services for TBX10		GenScript cDNA clones with any tag delivered in your preferred vector for TBX10
	GenScript Custom Assay Services for TBX10		GenScript Custom Superior Antibodies Services for TBX10
	GenScript Custom overexpressing Cell Line Services for TBX10		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
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX10

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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 TBX10 gene at Home site.

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