TBX1 Gene (Protein Coding)

T-Box Transcription Factor 1

GC22P019777
GIFtS:
44
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 product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital di... See more...

Aliases for TBX1 Gene

Aliases for TBX1 Gene

  • T-Box Transcription Factor 1 2 3 5
  • T-Box Transcription Factor TBX1 3 4
  • Testis-Specific T-Box Protein 3 4
  • CATCH22 2 3
  • T-Box 1 Transcription Factor C 3
  • Velocardiofacial Syndrome 2
  • T-Box Protein 1 4
  • Brachyury 3
  • T-Box 1 2
  • TBX1C 3
  • CAFS 3
  • CTHM 3
  • DGCR 3
  • DORV 3
  • VCFS 3
  • TBX1 5
  • DGS 3
  • TGA 3
  • VCF 3

External Ids for TBX1 Gene

Previous HGNC Symbols for TBX1 Gene

  • VCF

Previous GeneCards Identifiers for TBX1 Gene

  • GC22P016684
  • GC22P018118
  • GC22P019747
  • GC22P003364

Summaries for TBX1 Gene

Entrez Gene Summary for TBX1 Gene

  • 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 product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TBX1 Gene

TBX1 (T-Box Transcription Factor 1) is a Protein Coding gene. Diseases associated with TBX1 include Digeorge Syndrome and Velocardiofacial Syndrome. Among its related pathways are Mesodermal Commitment Pathway and Heart Development. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TBX10.

UniProtKB/Swiss-Prot Summary for TBX1 Gene

  • Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).

Additional gene information for TBX1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBX1 Gene

Genomics for TBX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TBX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J019756 Promoter/Enhancer 1.2 EPDnew ENCODE 250.7 +0.0 3 0.2 ZBTB10 IRF2 CTCF BHLHE40 NONO ZIC2 REST SIN3B VEZF1 NBN TBX1 DGCR8 HSALNG0134048 RTL10
GH22J019757 Promoter 0.9 Ensembl 250.7 +0.4 398 0.2 ZIC2 SIN3B RUNX1 KLF9 SP2 TARDBP CTCF EGR1 HNRNPL GLIS1 HSALNG0134048 TBX1 RTL10
GH22J019759 Promoter 0.7 Ensembl 250.7 +1.3 1298 0.4 ZEB2 GLIS1 ZNF548 MEIS2 EZH2 ID3 HDGF PKNOX1 NR4A1 HSALNG0134048 TBX1 ENSG00000273300 DGCR8 RPL8P5 MED15 RTL10
GH22J019758 Promoter 0.5 EPDnew 250.7 +2.0 2046 0.1 HNRNPL EZH2 HSALNG0134048 TBX1 RTL10
GH22J020493 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 +738.5 738498 4.4 ZSCAN16 TBP ZBTB10 MXD4 FEZF1 FOXA1 MNT IKZF1 SMAD5 IRF2 MED15 KLHL22 LOC101928824 lnc-MED15-1 DGCR8 LZTR1 TRMT2A RPL7AP70 THAP7-AS1 RPL8P5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBX1

Top Transcription factor binding sites by QIAGEN in the TBX1 gene promoter:
  • c-Jun
  • Nkx2-5
  • STAT3

Genomic Locations for TBX1 Gene

Latest Assembly
chr22:19,756,703-19,783,593
(GRCh38/hg38)
Size:
26,891 bases
Orientation:
Plus strand

Previous Assembly
chr22:19,744,226-19,771,116
(GRCh37/hg19 by Entrez Gene)
Size:
26,891 bases
Orientation:
Plus strand

chr22:19,744,226-19,771,116
(GRCh37/hg19 by Ensembl)
Size:
26,891 bases
Orientation:
Plus strand

Genomic View for TBX1 Gene

Genes around TBX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TBX1 Gene

Proteins for TBX1 Gene

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  2. Protein products for research
  3. Assay products for research

  • Protein details for TBX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43435-TBX1_HUMAN
    Recommended name:
    T-box transcription factor TBX1
    Protein Accession:
    O43435
    Secondary Accessions:
    • C6G493
    • C6G494
    • O43436
    • Q96RJ2

    Protein attributes for TBX1 Gene

    Size:
    398 amino acids
    Molecular mass:
    43133 Da
    Quaternary structure:
    • Interacts with DSCR6.

    Three dimensional structures from OCA and Proteopedia for TBX1 Gene

    Alternative splice isoforms for TBX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBX1 Gene

Protein Expression for TBX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TBX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBX1 Gene

Domains & Families for TBX1 Gene

Gene Families for TBX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TBX1 Gene

InterPro:
Blocks:
  • Transcription factor, T-box
ProtoNet:

Suggested Antigen Peptide Sequences for TBX1 Gene

GenScript: Design optimal peptide antigens:
  • T-box 1 (D9ZGG0_HUMAN)
  • T-box transcription factor TBX1 2 (Q152R5_HUMAN)
  • Testis-specific T-box protein (TBX1_HUMAN)
genes like me logo Genes that share domains with TBX1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBX1 Gene

Function for TBX1 Gene

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  2. CRISPR products for research
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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for TBX1 Gene

UniProtKB/Swiss-Prot Function:
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).
GENATLAS Biochemistry:
murine T-box gene Tbx1 (T,brachyury) homolog,expressed in the lateral plate mesoderm,the branchial arches,the otic vesicles and the optic cup

Phenotypes From GWAS Catalog for TBX1 Gene

Gene Ontology (GO) - Molecular Function for TBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003700 NOT DNA-binding transcription factor activity IEA,IDA 11111039
GO:0005515 protein binding IPI 30241482
genes like me logo Genes that share ontologies with TBX1: view
genes like me logo Genes that share phenotypes with TBX1: view

Human Phenotype Ontology for TBX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX1 Gene

MGI Knock Outs for TBX1:

Animal Models for research

miRNA for TBX1 Gene

miRTarBase miRNAs that target TBX1

Transcription Factor Targets for TBX1 Gene

Selected GeneGlobe predicted Target genes for TBX1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX1

Clone products for research

  • Addgene plasmids for TBX1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for TBX1 Gene

Localization for TBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBX1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 15703190
genes like me logo Genes that share ontologies with TBX1: view

Pathways & Interactions for TBX1 Gene

genes like me logo Genes that share pathways with TBX1: view

Pathways by source for TBX1 Gene

SIGNOR curated interactions for TBX1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis ISS --
GO:0001568 blood vessel development ISS --
GO:0001708 cell fate specification ISS --
GO:0001755 neural crest cell migration ISS --
GO:0001934 positive regulation of protein phosphorylation ISS --
genes like me logo Genes that share ontologies with TBX1: view

Drugs & Compounds for TBX1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TBX1 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for TBX1 Gene

4 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX1

Clone products for research

  • Addgene plasmids for TBX1

Alternative Splicing Database (ASD) splice patterns (SP) for TBX1 Gene

No ASD Table

Relevant External Links for TBX1 Gene

GeneLoc Exon Structure for
TBX1

Expression for TBX1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBX1 Gene

mRNA expression in normal human tissues for TBX1 Gene
mRNA expression by GTEx for TBX1 GenemRNA expression by BioGPS for TBX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX1 Gene

This gene is overexpressed in Muscle - Skeletal (x11.5) and Testis (x5.2).

Protein differential expression in normal tissues from HIPED for TBX1 Gene

This gene is overexpressed in Serum (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBX1 Gene



Protein tissue co-expression partners for TBX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBX1

SOURCE GeneReport for Unigene cluster for TBX1 Gene:

Hs.173984

Evidence on tissue expression from TISSUES for TBX1 Gene

  • Muscle(4.6)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
  • testicle
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TBX1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for TBX1 Gene

Orthologs for TBX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TBX1 30 31
  • 97.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TBX1 30 31
  • 90.34 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tbx1 30 17 31
  • 85.96 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tbx1 30
  • 85.3 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TBX1 31
  • 79 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TBX1 31
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tbx1 30
  • 73.69 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.21661 30
Zebrafish
(Danio rerio)
 Actinopterygii tbx1 30 31
  • 72.19 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Doc3 32
  • 47 (a)
org-1 31 32
  • 28 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea mls-1 30
  • 53.54 (n)
mab-9 32
  • 49 (a)
tbx-7 31
  • 32 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 51 (a)
 OneToMany
Species where no ortholog for TBX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TBX1 Gene

ENSEMBL:
Gene Tree for TBX1 (if available)
TreeFam:
Gene Tree for TBX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBX1: view image

Paralogs for TBX1 Gene

Paralogs for TBX1 Gene

(12) SIMAP similar genes for TBX1 Gene using alignment to 3 proteins:

  • TBX1_HUMAN
  • D9ZGG0_HUMAN
  • Q152R5_HUMAN
genes like me logo Genes that share paralogs with TBX1: view

Variants for TBX1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBX1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
833569 Likely Benign: DiGeorge sequence 19,766,754(+) G/T
NM_080647.1(TBX1):c.1375G>T (p.Val459Leu) 		MISSENSE_VARIANT,INTRON
833916 Likely Benign: DiGeorge sequence 19,766,760(+) CCAGCCGCCGCGGCCG
NM_080647.1(TBX1):c.1383_1421del (p.Ala464_Ala476del) 		INFRAME_DELETION,INTRON
836094 Uncertain Significance: DiGeorge sequence 19,766,759(+) TCCAGCCGCCGCGGCC
NM_080647.1(TBX1):c.1381_1419del (p.Pro461_Ala473del) 		INFRAME_DELETION,INTRON
842007 Uncertain Significance: DiGeorge sequence 19,766,652(+) CACT/C
NM_080647.1(TBX1):c.1275_1277del (p.Tyr426del) 		INFRAME_DELETION,INTRON
842651 Uncertain Significance: DiGeorge sequence 19,766,547(+) G/A
NM_080647.1(TBX1):c.1168G>A (p.Gly390Arg) 		MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBX1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TBX1 Gene

Variant ID Type Subtype PubMed ID
dgv725n67 CNV gain 20364138
dgv7982n54 CNV loss 21841781
dgv7983n54 CNV gain 21841781
esv21705 CNV loss 19812545
esv2751940 CNV gain 17911159
esv3568257 CNV loss 25503493
esv3568258 CNV loss 25503493
esv3568260 CNV loss 25503493
esv3575418 CNV gain 25503493
esv3575428 CNV gain 25503493
esv3647279 CNV gain 21293372
esv3893434 CNV gain 25118596
nsv1072619 CNV deletion 25765185
nsv1118942 CNV deletion 24896259
nsv471181 CNV loss 18288195
nsv517478 CNV loss 19592680
nsv588216 CNV gain 21841781
nsv588231 CNV loss 21841781
nsv588232 CNV gain 21841781
nsv588235 CNV loss 21841781
nsv588236 CNV loss 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv828943 CNV loss 20364138
nsv828946 CNV gain 20364138
nsv828947 CNV gain 20364138
nsv828948 CNV loss 20364138
nsv834128 CNV loss 17160897
nsv834129 CNV loss 17160897
nsv953023 CNV deletion 24416366

Variation tolerance for TBX1 Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.93; 83.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBX1 Gene

Human Gene Mutation Database (HGMD)
TBX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBX1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX1 Gene

Disorders for TBX1 Gene

MalaCards: The human disease database

(59) MalaCards diseases for TBX1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TBX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBX1_HUMAN
  • Note=Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.
  • DiGeorge syndrome (DGS) [MIM:188400]: A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. {ECO:0000269 PubMed:14585638}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Velocardiofacial syndrome (VCFS) [MIM:192430]: A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders. {ECO:0000269 PubMed:14585638, ECO:0000269 PubMed:17273972}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TBX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TBX1: view

No data available for Genatlas for TBX1 Gene

Publications for TBX1 Gene

  1. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. (PMID: 9268629) Chieffo C … Budarf ML (Genomics 1997) 2 3 4 23
  2. Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome. (PMID: 19645056) Heike CL … Crawford DC (Birth defects research. Part A, Clinical and molecular teratology 2010) 3 23 41
  3. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. (PMID: 19948535) Rauch R … Rauch A (Journal of medical genetics 2010) 3 41 74
  4. TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy. (PMID: 17479646) Cabuk F … Tükün A (The Turkish journal of pediatrics 2007) 3 23 41
  5. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. (PMID: 16684884) Paylor R … Lindsay E (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 23 74

ExternalLinks

View latest publications for TBX1 gene in Mastermind

Products for TBX1 Gene

  • Addgene plasmids for TBX1

Sources for TBX1 Gene