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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBX4 Gene

protein-coding GIFtS: 51
GCID: GC17P059533

T-box 4

Explore 17 diseases affiliated with
TBX4 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 4¹ ²
T-Box Protein 4² ³
SPS²
T-Box Transcription Factor TBX4²

External Ids:	HGNC: 11603¹	Entrez Gene: 9496²	Ensembl: ENSG00000121075⁷	OMIM: 601719⁵	UniProtKB: P57082³

Export aliases for TBX4 gene to outside databases

Previous GC identifers: GC17P059297 GC17P062019 GC17P059875 GC17P060008 GC17P056888 GC17P054900

(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 TBX4:

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 gene is

the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like

TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing

hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification

of limb identity. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TBX4_HUMAN, P57082

Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a

role in limb pattern formation

(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_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBX4 gene promoter:
E2F-3a E2F-4 E2F-5 POU3F1 MyoD E2F-2 NF-AT c-Rel E2F-1 E2F
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TBX4 promoter sequence

Search SABiosciences Chromatin IP Primers for TBX4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX4

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

Entrez Gene cytogenetic band: 17q21-q22 Ensembl cytogenetic band: 17q23.2 HGNC cytogenetic band: 17q21-q22

TBX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX4 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P059533: view genomic region (about GC identifiers)

Start:	59,529,765 bp from pter	End:	59,562,471 bp from pter
Size:	32,707 bases	Orientation:	plus 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: TBX4_HUMAN, P57082 (See protein sequence)

Recommended Name: T-box transcription factor TBX4

Size: 545 amino acids; 60204 Da

Subcellular location: Nucleus (Potential)

Secondary accessions: B2RMT1

Explore the universe of human proteins at neXtProt for TBX4: NX_P57082

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P57082

TBX4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060958.2

ENSEMBL proteins:

ENSP00000467588 ENSP00000377435 ENSP00000240335

Human Recombinant Protein Products for TBX4:

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	Browse Sino Biological Recombinant Proteins
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	Uscn Proteins for TBX4

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	--

TBX4 for ontologies About GeneDecksing

TBX4 Antibody Products:

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	Uscn ELISAs and CLIAs for TBX4

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

TBX4 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 P57082

ProtoNet protein and cluster: P57082

2 Blocks protein families:

IPB001699 Transcription factor

IPB002070 Brachyury protein family signature

UniProtKB/Swiss-Prot: TBX4_HUMAN, P57082

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, 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 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TBX4_HUMAN, P57082

Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a

role in limb pattern formation

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	NAS	15106123
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	10945475
GO:0005515	protein binding	--	--

TBX4 for ontologies About GeneDecksing

Phenotypes:
10 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Tbx4):

cardiovascular system	cellular	embryogenesis	homeostasis/metabolism	limbs/digits/tail
mortality/aging	nervous system	no phenotypic analysis	normal	skeleton

TBX4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Tbx4^tm1.1Pa for TBX4

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TBX4

miRNA Products:		OriGene 3'-UTR Clone: TBX4 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX4
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX4 (see all 10):
		hsa-miR-125a-5p hsa-miR-1260b hsa-miR-578 hsa-miR-1260 hsa-miR-519e* hsa-miR-515-5p hsa-miR-1184 hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: TBX4 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 TBX4 (see all 7) OriGene shRNA RFP: TBX4 OriGene siRNA: TBX4
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for TBX4
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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 TBX4 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX4 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX4

(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 TBX4

3 Interacting proteins for TBX4 (P57082^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FAM46A	Q96IP4³	I2D: score=2
--	Q5TF85³^,²	MINT-60903 I2D: score=2
--	Q5TF85³^,²	MINT-60903 I2D: score=2

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IEA	--
GO:0002009	morphogenesis of an epithelium	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	NAS	10945475
GO:0007275	multicellular organismal development	NAS	10945475

TBX4 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 TBX4
Search CenterWatch for drugs/clinical trials and news about TBX4

(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, 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 TBX4 gene:

NM_018488.2

Unigene Cluster for TBX4:

T-box 4

Hs.143907 [show with all ESTs]

Unigene Representative Sequence: BC142620

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

ENST00000589003 ENST00000393853(uc010ddo.3 uc010woy.2) ENST00000240335(uc002izi.3)

ENST00000593249 ENST00000590174 ENST00000589449 ENST00000586874

miRNA Products:		OriGene 3'-UTR Clone: TBX4 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX4
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX4 (see all 10):
		hsa-miR-125a-5p hsa-miR-1260b hsa-miR-578 hsa-miR-1260 hsa-miR-519e* hsa-miR-515-5p hsa-miR-1184 hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: TBX4 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 TBX4 (see all 7) OriGene shRNA RFP: TBX4 OriGene siRNA: TBX4
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		Sirion Biotech Custom design and validation of potent shRNA sequences against TBX4

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX4 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX4 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TBX4 (NM_018488)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX4
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX4
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Additional cDNA sequence:

AF188703.1 AK310312.1 BC136403.1 BC142620.1 BC144062.1

2 DOTS entries:

DT.65284762 DT.91727322

10 AceView cDNA sequences:

AF188703 AI205553 NM_018488 AA405602 BM770576 BX281440 BX381555 CB989075

AI150577 BG900048

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for TBX4 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	^	8	^	9	^	10
SP1:					-						-		-		-
SP2:											-		-		-
SP3:
SP4:															-

ECgene alternative splicing isoforms for TBX4

(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

TBX4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATGTTTTAT

About this image

TBX4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Limb Bud

Limb Bud Mesenchyme Cells

Selective marker (cell-identifying gene)

Mesoderm

Lung

Lung Mesoderm

Distal Mesodermal Progenitor Cells

Lung

Placenta

Chorioallantoic Placenta

Extraembryonic Angioblasts

Endothelium

Bone

Zeugopod Epiphyseal End

Bone

Limb

Limb Bud

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Mesendoderm cells (Generation of skelet...)

Trophoblast-like cells (Generation of tropho...)

Primordial germ cell-like cells (Reconstitution of mo...)

See TBX4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBX4

SOURCE GeneReport for Unigene cluster: Hs.143907

SABiosciences Custom PCR Arrays for TBX4

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX4

(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 chordates.

Orthologs for TBX4 gene from 3/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TBX4¹	T-box 4	79.78(n) 86.52(a)		373989 NM_001030537.1 NP_001025708.1
lizard (Anolis carolinensis)	Reptilia	-- TBX4⁶	--	99(a) 82(a)	1 ↔ 1 possible ortholog	AAWZ02038832(947-1667) GL343932.1(7226-12397)
zebrafish (Danio rerio)	Actinopterygii	tbx4²	T-box 4	80.12(n)		30070 AF179406.1

ENSEMBL Gene Tree for TBX4 (if available)
TreeFam Gene Tree for TBX4 (if available)

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

Paralogs for TBX4 gene

TBX1² TBX22² TBX19² T² EOMES² TBX2² TBX6² TBX21²

TBX3² TBX20² TBX5² TBX10² TBX15² TBR1² TBX18²

12 SIMAP similar genes for TBX4 using alignment to 4 protein entries: TBX4_HUMAN (see all proteins):

TBX5 DKFZp762H2012 TBX2 TBX18 TBX1 TBX22

TBX6 TBX10 T TBX20 TBX19 TBX15

TBX4 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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28936696^1,2	C	pathogenic	61625375(+)	`CTTACA/GGTACC`	2	Q R	mis¹ ese³		2		NA	4
rs104894648^1,2	C	pathogenic	61652177(+)	`CGGAGC/TAGGTA`	2	Q *	stg¹		0	--	--	--	--
rs4968564^1,2	C,A	--	54898274(+)	`GACCCC/GGCGGT`	1	--	us2k¹		4		NA WA EA	360
rs12452725^1,2	C,H	--	54898341(+)	`CGCCCC/TGGGCC`	1	--	us2k¹		0	--	--	--	--
rs72834684^1,2	C	--	54899545(+)	`GAACTC/TGAGCA`	1	--	us2k¹		1		NA	120
rs73334544^1,2	C	--	54899669(+)	`TCTGTG/TCCAGA`	1	--	us2k¹		1		WA	2
rs75514233^1,2	F	--	54899724(+)	`GCCTTT/CGGTTC`	1	--	us2k¹		1		NA	120
rs113269841^1,2	C	--	54900010(+)	`AGCTGT/CGGCAA`	1	--	us2k¹		2		NA	122
rs74903643^1,2	F	--	54901804(+)	`AATGCA/GTTGAT`	1	--	int¹		1		WA	118
rs58246885^1,2	C	--	54902659(+)	`CTCAGC/TTCTGC`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for TBX4 (59529765 - 59562471 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TBX4: --
Human Gene Mutation Database (HGMD): TBX4

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX4

DNA2.0 Custom Variant and Variant Library Synthesis for TBX4

(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

TBX4 for disorders           About GeneDecksing

OMIM gene information: 601719
OMIM disorders: 147891
UniProtKB/Swiss-Prot: TBX4_HUMAN, P57082

Defects in TBX4 are the cause of small patella syndrome (SPS) [MIM:147891]; also known as ischiopatellar

dysplasia or Scott-Taor syndrome. SPS is an autosomal dominant skeletal dysplasia characterized by patellar aplasia or

hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic

rami

17 diseases for TBX4: About MalaCards

nail-patella syndrome radioulnar synostosis developmental dysplasia of hip small patella syndrome

tracheal stenosis synostosis chronic obstructive pulmonary disease ovarian hyperstimulation syndrome

esophageal atresia pulmonary disease pulmonary hypertension microcephaly

hypertension endometriosis pharyngitis esophagitis

thyroiditis

2 diseases from the University of Copenhagen DISEASES database for TBX4:

Clubfoot Radioulnar synostosis

1 Novoseek disease relationship for TBX4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypoplasia	37	1	17164415 (1)

Human Genome Epidemiology (HuGE) Navigator: TBX4 (7 documents)

Export disorders for TBX4 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 TBX4 gene, integrated from 9 sources (see all 32):
(articles sorted by number of sources associating them with TBX4)

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

Virtual cloning and physical mapping of a human T-box gene, TBX4. (PubMed id 10945475)^{1, 2, 3, 9} Yi C.H.... Brook J.D. (2000)
Mutations in the human TBX4 gene cause small patella syndrome. (PubMed id 15106123)^{1, 2, 9} Bongers E.M.H.F.... van Bokhoven H. (2004)
Studies of TBX4 and chromosome 17q23.1q23.2: an uncomm on cause of nonsyndromic clubfoot. (PubMed id 22678995)¹ Lu W....Hecht J.T. (2012)
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX 4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural h earing loss, and pulmonary hypertension. (PubMed id 21271665)¹ Nimmakayalu M....Shchelochkov O.A. (2011)
The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)¹ Zhao J....Grant S.F. (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)
Identification of 15 loci influencing height in a Kor ean population. (PubMed id 19893584)¹ Kim J.J....Lee J.K. (2010)
Association of a single nucleotide polymorphism in Tb x4 with developmental dysplasia of the hip: a case-control study. (PubMed id 20887794)¹ Wang K....Jiang Q. (2010)
High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)¹ Yerges L.M....Zmuda J.M. (2009)
Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)¹ Gudbjartsson D.F....Stefansson K. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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)
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Entrez Gene: 9496	HGNC: 11603	AceView: TBX4	Ensembl:ENSG00000121075	euGenes: HUgn9496
ECgene: TBX4	H-InvDB: TBX4

(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)
About This Section

Name	Description
PharmGKB entry for TBX4	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX4

Intellectual Property for TBX4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TBX4 gene:
Search GeneIP for patents involving TBX4

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 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
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