Details for: TBX5

Gene ID: 6910

Symbol: TBX5

Ensembl ID: ENSG00000089225

Description: T-box transcription factor 5

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 7.4583
    Cell Significance Index: -3.0300
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 5.2984
    Cell Significance Index: 32.7800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.8203
    Cell Significance Index: 139.6900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.4881
    Cell Significance Index: 21.9700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.3318
    Cell Significance Index: 32.2600
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.9526
    Cell Significance Index: 2.7300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6364
    Cell Significance Index: 126.3000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2274
    Cell Significance Index: 12.7600
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.1920
    Cell Significance Index: 2.0400
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.1359
    Cell Significance Index: 0.6500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1348
    Cell Significance Index: 19.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1323
    Cell Significance Index: 2.7700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.1076
    Cell Significance Index: 1.5500
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.1066
    Cell Significance Index: 1.4900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.1058
    Cell Significance Index: 5.3500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1027
    Cell Significance Index: 1.6300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.0936
    Cell Significance Index: 0.9800
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.0662
    Cell Significance Index: 0.9300
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: 0.0441
    Cell Significance Index: 0.2700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0367
    Cell Significance Index: 0.4600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0192
    Cell Significance Index: 0.2400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0033
    Cell Significance Index: 6.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0003
    Cell Significance Index: 0.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0007
    Cell Significance Index: -1.1500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0008
    Cell Significance Index: -1.4400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0015
    Cell Significance Index: -2.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0040
    Cell Significance Index: -2.9900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0044
    Cell Significance Index: -3.3100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0054
    Cell Significance Index: -2.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0054
    Cell Significance Index: -3.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0059
    Cell Significance Index: -2.1300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0067
    Cell Significance Index: -0.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0081
    Cell Significance Index: -1.6200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0087
    Cell Significance Index: -2.5000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0087
    Cell Significance Index: -0.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0097
    Cell Significance Index: -0.5100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0148
    Cell Significance Index: -0.7700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0148
    Cell Significance Index: -1.5100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0151
    Cell Significance Index: -2.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0169
    Cell Significance Index: -2.8800
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0185
    Cell Significance Index: -0.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0186
    Cell Significance Index: -2.5500
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.0217
    Cell Significance Index: -0.1000
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0230
    Cell Significance Index: -0.2900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0238
    Cell Significance Index: -2.9300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0250
    Cell Significance Index: -3.2300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0257
    Cell Significance Index: -2.9400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0264
    Cell Significance Index: -0.3200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0279
    Cell Significance Index: -0.2300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0285
    Cell Significance Index: -0.3600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0289
    Cell Significance Index: -3.0100
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0300
    Cell Significance Index: -0.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0345
    Cell Significance Index: -2.3200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0405
    Cell Significance Index: -0.5800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0433
    Cell Significance Index: -3.2300
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0446
    Cell Significance Index: -0.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0466
    Cell Significance Index: -2.4200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0467
    Cell Significance Index: -0.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0481
    Cell Significance Index: -2.2600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0532
    Cell Significance Index: -3.4300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0532
    Cell Significance Index: -3.2700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0544
    Cell Significance Index: -0.9100
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: -0.0553
    Cell Significance Index: -0.5200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0678
    Cell Significance Index: -3.0000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0711
    Cell Significance Index: -2.6100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0717
    Cell Significance Index: -1.9200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0765
    Cell Significance Index: -2.6800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0779
    Cell Significance Index: -2.9500
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0797
    Cell Significance Index: -2.5200
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: -0.0816
    Cell Significance Index: -0.9700
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0838
    Cell Significance Index: -1.1300
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0841
    Cell Significance Index: -1.2100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0854
    Cell Significance Index: -2.1300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0878
    Cell Significance Index: -2.3500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0907
    Cell Significance Index: -2.9700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0926
    Cell Significance Index: -2.9500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0927
    Cell Significance Index: -2.6700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0980
    Cell Significance Index: -2.3900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0992
    Cell Significance Index: -2.8300
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1003
    Cell Significance Index: -2.0400
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.1006
    Cell Significance Index: -1.2500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1021
    Cell Significance Index: -2.5500
  • Cell Name: fibroblast (CL0000057)
    Fold Change: -0.1023
    Cell Significance Index: -0.9600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1088
    Cell Significance Index: -4.4600
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: -0.1141
    Cell Significance Index: -0.5100
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.1170
    Cell Significance Index: -0.9000
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.1195
    Cell Significance Index: -1.2800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1215
    Cell Significance Index: -2.6600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1259
    Cell Significance Index: -3.1400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1266
    Cell Significance Index: -3.3300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1287
    Cell Significance Index: -3.2800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1390
    Cell Significance Index: -2.9500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1396
    Cell Significance Index: -3.8000
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.1401
    Cell Significance Index: -1.7700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1403
    Cell Significance Index: -2.4300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1413
    Cell Significance Index: -2.0600
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1422
    Cell Significance Index: -1.3800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1435
    Cell Significance Index: -3.1000
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1443
    Cell Significance Index: -2.0500
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.1463
    Cell Significance Index: -1.4000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** TBX5 is a member of the T-box transcription factor family, characterized by its ability to bind to specific DNA sequences and regulate gene expression. This gene exhibits a high degree of tissue specificity, with significant expression in cardiac myocytes, endothelial cells, and other cardiac progenitor cells. TBX5 is also involved in various signaling pathways, including cell-cell signaling, cell fate specification, and morphogenesis. Its expression is tightly regulated during cardiac development, with a dynamic pattern of expression that is essential for proper heart morphogenesis. **Pathways and Functions** TBX5 is involved in several key pathways that regulate cardiac development and function. These include: 1. **Atrial Septum Morphogenesis**: TBX5 regulates the formation of the atrial septum, a critical structure that separates the left and right atria. 2. **Atrioventricular Bundle Cell Differentiation**: TBX5 promotes the differentiation of atrioventricular bundle cells, which are essential for the transmission of electrical impulses in the heart. 3. **Atrioventricular Node Cell Development**: TBX5 regulates the development of atrioventricular node cells, which are responsible for the regulation of heart rate. 4. **Cardiac Conduction**: TBX5 is involved in the regulation of cardiac conduction, including the assembly of gap junctions and the transmission of electrical impulses. 5. **Cell Fate Specification**: TBX5 regulates the specification of cardiac cell fate, including the differentiation of cardiac myocytes and endothelial cells. **Clinical Significance** TBX5 abnormalities have been associated with several congenital heart defects, including atrioventricular septal defects, atrial septal defects, and ventricular septal defects. Mutations in TBX5 have also been linked to other cardiac anomalies, highlighting the gene's importance in cardiac development and function. Understanding the role of TBX5 in cardiac morphogenesis and function is essential for the development of novel therapeutic strategies for the treatment of congenital heart defects. In conclusion, TBX5 is a critical transcription factor that plays a pivotal role in cardiac development and function. Its involvement in various morphogenesis pathways and its association with congenital heart defects highlight the gene's significance in cardiac biology. Further research on TBX5 is necessary to fully elucidate its role in cardiac development and to develop novel therapeutic strategies for the treatment of congenital heart defects.

Genular Protein ID: 1743825047

Symbol: TBX5_HUMAN

Name: T-box transcription factor TBX5

UniProtKB Accession Codes:

Q99593 A6ND77 O15301 Q96TB0 Q9Y4I2

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 4 EvolutionaryTrace 1 GO 53 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 3 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8988164

Title: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

PubMed ID: 8988164

DOI: 10.1038/ng0197-21

PubMed ID: 8988165

Title: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome.

PubMed ID: 8988165

DOI: 10.1038/ng0197-30

PubMed ID: 10077612

Title: Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

PubMed ID: 10077612

DOI: 10.1073/pnas.96.6.2919

PubMed ID: 11183182

Title: The mutation spectrum in Holt-Oram syndrome.

PubMed ID: 11183182

DOI: 10.1136/jmg.37.10.785

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12818525

Title: Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

PubMed ID: 12818525

DOI: 10.1016/s0003-3995(03)00006-6

PubMed ID: 24000169

Title: GATA4 loss-of-function mutations underlie familial tetralogy of fallot.

PubMed ID: 24000169

DOI: 10.1002/humu.22434

PubMed ID: 25725155

Title: TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy.

PubMed ID: 25725155

DOI: 10.1016/j.bbrc.2015.02.094

PubMed ID: 25963046

Title: A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy.

PubMed ID: 25963046

DOI: 10.3892/ijmm.2015.2206

PubMed ID: 29174768

Title: Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development.

PubMed ID: 29174768

DOI: 10.1016/j.yjmcc.2017.11.013

PubMed ID: 20450920

Title: Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.

PubMed ID: 20450920

DOI: 10.1016/j.jmb.2010.04.052

PubMed ID: 26926761

Title: Intermolecular interactions of cardiac transcription factors NKX2.5 and TBX5.

PubMed ID: 26926761

DOI: 10.1021/acs.biochem.6b00171

PubMed ID: 10842287

Title: Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

PubMed ID: 10842287

DOI: 10.1002/(sici)1096-8628(20000605)92:4<237::aid-ajmg2>3.0.co;2-g

PubMed ID: 15735645

Title: Mutation in myosin heavy chain 6 causes atrial septal defect.

PubMed ID: 15735645

DOI: 10.1038/ng1526

PubMed ID: 26917986

Title: Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.

PubMed ID: 26917986

DOI: 10.7150/ijms.13264

PubMed ID: 27035640

Title: TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.

PubMed ID: 27035640

DOI: 10.3892/mmr.2016.5043

Sequence Information:

  • Length: 518
  • Mass: 57711
  • Checksum: 70118AD84FF5C00F
  • Sequence:
    • MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG MEGIKVFLHE 
RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY ILLMDIVPAD DHRYKFADNK 
WSVTGKAEPA MPGRLYVHPD SPATGAHWMR QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ 
PRLHIVKADE NNGFGSKNTA FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD 
DMELHRMSRM QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE DSFYRSSYPQ 
QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT WPSMPSYSSC TVTTVQPMDR 
LPYQHFSAHF TSGPLVPRLA GMANHGSPQL GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG 
TLQPPEFLYS HGVPRTLSPH QYHSVHGVGM VPEWSDNS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.