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TBX5

GENERAL INFORMATION

Gene name

 TBX5

Gene description

 T-box 5

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (heart muscle, placenta, lung)
GTEx:Group enriched (heart muscle, lung)
FANTOM5:Tissue enhanced (heart muscle, lung, placenta)

Protein evidence

 Evidence at protein level

Protein expression

 General nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification. Cytoplasmic bindning observed and disregarded.

Reliability score

 Uncertain based on 1 antibody.
HPA008786
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, placenta, lung)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, lung)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (heart muscle, lung, placenta)

GENE INFORMATION

Gene name

 TBX5 (HGNC Symbol)

Synonyms

 HOS

Description

 T-box 5 (HGNC Symbol)

Entrez gene summary

 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 closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 12

Cytoband

 q24.21

Chromosome location (bp)

 114353931 - 114408442

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000089225 (version 83.38)

Entrez gene

 6910

UniProt

 Q99593 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99593

Antibodypedia

 TBX5 antibodies

PROTEIN BROWSER
TBX5-001
TBX5-002
TBX5-003
TBX5-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
TBX5-001
ENSP00000309913
ENST00000310346
Q99593 [Direct mapping]
T-box transcription factor TBX5
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Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Show all
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0002009 [morphogenesis of an epithelium]
GO:0003166 [bundle of His development]
GO:0003181 [atrioventricular valve morphogenesis]
GO:0003197 [endocardial cushion development]
GO:0003218 [cardiac left ventricle formation]
GO:0003229 [ventricular cardiac muscle tissue development]
GO:0003281 [ventricular septum development]
GO:0003283 [atrial septum development]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007267 [cell-cell signaling]
GO:0007389 [pattern specification process]
GO:0007507 [heart development]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0010467 [gene expression]
GO:0010719 [negative regulation of epithelial to mesenchymal transition]
GO:0030324 [lung development]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0055007 [cardiac muscle cell differentiation]
GO:0060039 [pericardium development]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060045 [positive regulation of cardiac muscle cell proliferation]
GO:0060290 [transdifferentiation]
GO:0060413 [atrial septum morphogenesis]
GO:0060980 [cell migration involved in coronary vasculogenesis]
GO:0072513 [positive regulation of secondary heart field cardioblast proliferation]
GO:1900117 [regulation of execution phase of apoptosis]
Show all
 518 aa
57.7 kDa 		No 0
TBX5-002
ENSP00000433292
ENST00000526441
Q99593 [Direct mapping]
T-box transcription factor TBX5
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Show all
GO:0003218 [cardiac left ventricle formation]
GO:0003281 [ventricular septum development]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007267 [cell-cell signaling]
GO:0007507 [heart development]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0010467 [gene expression]
GO:0010719 [negative regulation of epithelial to mesenchymal transition]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0060039 [pericardium development]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060980 [cell migration involved in coronary vasculogenesis]
GO:1900117 [regulation of execution phase of apoptosis]
Show all
 349 aa
39.2 kDa 		No 0
TBX5-003
ENSP00000337723
ENST00000349716
Q99593 [Direct mapping]
T-box transcription factor TBX5
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Show all
GO:0003218 [cardiac left ventricle formation]
GO:0003281 [ventricular septum development]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007267 [cell-cell signaling]
GO:0007507 [heart development]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0010467 [gene expression]
GO:0010719 [negative regulation of epithelial to mesenchymal transition]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0060039 [pericardium development]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060980 [cell migration involved in coronary vasculogenesis]
GO:1900117 [regulation of execution phase of apoptosis]
Show all
 468 aa
52.7 kDa 		No 0
TBX5-005
ENSP00000384152
ENST00000405440
Q99593 [Direct mapping]
T-box transcription factor TBX5
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Show all
GO:0003218 [cardiac left ventricle formation]
GO:0003281 [ventricular septum development]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007267 [cell-cell signaling]
GO:0007507 [heart development]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0010467 [gene expression]
GO:0010719 [negative regulation of epithelial to mesenchymal transition]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0060039 [pericardium development]
GO:0060044 [negative regulation of cardiac muscle cell proliferation]
GO:0060980 [cell migration involved in coronary vasculogenesis]
GO:1900117 [regulation of execution phase of apoptosis]
Show all
 518 aa
57.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.