TBX5

Functionⁱ

DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761).7 Publications

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	58 – 238	T-boxPROSITE-ProRule annotation1 PublicationAdd BLAST		181

GO - Molecular functionⁱ

DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 16332960
DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
DNA-binding transcription factor activity
Source: UniProtKB
Inferred from direct assayⁱ
DNA-binding transcription factor activity, RNA polymerase II-specific
Source: UniProtKB
Inferred from direct assayⁱ
- 29174768
RNA polymerase II proximal promoter sequence-specific DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 26926761
sequence-specific DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 11431700
- 12499378
transcription factor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 11431700

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

atrial septum morphogenesis Source: Ensembl
atrioventricular valve morphogenesis Source: Ensembl
bundle of His development Source: Ensembl
cardiac left ventricle formation Source: BHF-UCL
cardiac muscle cell differentiation Source: Ensembl
cell-cell signaling
Source: UniProtKB
Inferred from direct assayⁱ
- 11161571
cell migration involved in coronary vasculogenesis
Source: DFLAT
Traceable author statementⁱ
- 20299672
embryonic forelimb morphogenesis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 16183809
embryonic limb morphogenesis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 8988164
endocardial cushion development Source: Ensembl
forelimb morphogenesis
Source: MGI
Inferred from mutant phenotypeⁱ
- 8988164
- 8988165
heart development
Source: UniProtKB
Inferred from direct assayⁱ
- 15138308
lung development Source: Ensembl
morphogenesis of an epithelium Source: Ensembl
negative regulation of cardiac muscle cell proliferation
Source: UniProtKB
Inferred from direct assayⁱ
- 11161571
negative regulation of cell migration
Source: UniProtKB
Inferred from direct assayⁱ
- 15138308
negative regulation of cell proliferation
Source: UniProtKB
Inferred from direct assayⁱ
- 11161571
- 12237100
negative regulation of epithelial to mesenchymal transition
Source: DFLAT
Traceable author statementⁱ
- 20299672
pattern specification process Source: Ensembl
pericardium development
Source: UniProtKB
Inferred from direct assayⁱ
- 15138308
positive regulation of cardiac muscle cell proliferation Source: Ensembl
positive regulation of cardioblast differentiation
Source: UniProtKB
Inferred from direct assayⁱ
- 11431700
positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
positive regulation of transcription by RNA polymerase II
Source: UniProtKB
Inferred from direct assayⁱ
- 29174768
transcription initiation from RNA polymerase II promoter Source: Reactome
ventricular septum development Source: BHF-UCL

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression R-HSA-5578768 Physiological factors
SIGNORⁱ	Q99593

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: T-box transcription factor TBX5 Short name: T-box protein 5
Gene namesⁱ	Name:TBX5
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 12

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000089225.19
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11604 TBX5
MIMⁱ	601620 gene
neXtProtⁱ	NX_Q99593

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Holt-Oram syndrome (HOS)7 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionDevelopmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	234	K → R: Does not affect acetylation of the protein. 1 Publication	1
Mutagenesisⁱ	325	K → R: Does not affect transcription factor activity. 1 Publication	1
Mutagenesisⁱ	327	K → R: Does not affect transcription factor activity. 1 Publication	1
Mutagenesisⁱ	339	K → R: Abolishes acetylation of the protein, leading to impaired transcription factor activity. Impaired subcellular location. 1 Publication	1
Mutagenesisⁱ	340	K → R: Does not affect transcription factor activity. 1 Publication	1

Keywords - Diseaseⁱ

Atrial fibrillation, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	6910
GeneReviewsⁱ	TBX5
MalaCards human disease database More...MalaCardsⁱ	TBX5
MIMⁱ	142900 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000089225
Orphanetⁱ	392 Holt-Oram syndrome
PharmGKBⁱ	PA36367

Chemistry databases

ChEMBLⁱ	CHEMBL1687681

ChEMBLⁱ

CHEMBL1687681

Polymorphism and mutation databases

BioMutaⁱ	TBX5
DMDMⁱ	12644474

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000184435	1 – 518	T-box transcription factor TBX5Add BLAST		518

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	339	N6-acetyllysine1 Publication		1

Post-translational modificationⁱ

Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention.1 Publication

Keywords - PTMⁱ

Acetylation

Proteomic databases

EPDⁱ	Q99593
PaxDbⁱ	Q99593
PeptideAtlas More...PeptideAtlasⁱ	Q99593
PRIDEⁱ	Q99593
ProteomicsDBⁱ	78347 78348 [Q99593-2]

PTM databases

iPTMnetⁱ	Q99593
PhosphoSitePlusⁱ	Q99593

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000089225 Expressed in 112 organ(s), highest expression level in tendon of biceps brachii
CleanExⁱ	HS_TBX5
Genevisibleⁱ	Q99593 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA008786 HPA064683

HPAⁱ

HPA008786
HPA064683

Interactionⁱ

Subunit structureⁱ

Monomer (PubMed:20450920). Homodimer (via the T-box); binds DNA as homodimer (PubMed:26926761). Interacts (via the T-box) with NKX2-5 (via the homeobox); this complex binds DNA (PubMed:26926761). Interacts with GATA4 (PubMed:24000169). Interacts with KAT2A and KAT2B (PubMed:29174768).4 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
Gata4	Q08369	2	EBI-297043,EBI-297008	From Mus musculus.
NKX2-5	P52952	6	EBI-304423,EBI-936601
YAP1	P46937	4	EBI-297043,EBI-1044059

GO - Molecular functionⁱ

transcription factor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 11431700

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	112773, 7 interactors
CORUMⁱ	Q99593
IntActⁱ	Q99593, 9 interactors
STRINGⁱ	9606.ENSP00000309913

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	43 – 48	Combined sources	6
Beta strandⁱ	55 – 58	Combined sources	4
Helixⁱ	61 – 70	Combined sources	10
Beta strandⁱ	73 – 75	Combined sources	3
Beta strandⁱ	77 – 79	Combined sources	3
Beta strandⁱ	88 – 93	Combined sources	6
Beta strandⁱ	96 – 117	Combined sources	22
Beta strandⁱ	120 – 126	Combined sources	7
Beta strandⁱ	142 – 144	Combined sources	3
Helixⁱ	145 – 150	Combined sources	6
Beta strandⁱ	153 – 155	Combined sources	3
Beta strandⁱ	159 – 161	Combined sources	3
Beta strandⁱ	177 – 187	Combined sources	11
Beta strandⁱ	194 – 197	Combined sources	4
Beta strandⁱ	201 – 204	Combined sources	4
Helixⁱ	207 – 209	Combined sources	3
Beta strandⁱ	211 – 216	Combined sources	6
Helixⁱ	220 – 229	Combined sources	10
Helixⁱ	231 – 236	Combined sources	6

Show more details

3D structure databases

ProteinModelPortalⁱ	Q99593
SMRⁱ	Q99593
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ

Q99593

Family & Domainsⁱ

Domainⁱ

The T-Box domain binds to double-stranded DNA (PubMed:26926761).1 Publication

Phylogenomic databases

eggNOGⁱ	KOG3585 Eukaryota ENOG410XSTS LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118897
HOGENOMⁱ	HOG000286001
HOVERGENⁱ	HBG007310
InParanoidⁱ	Q99593
KEGG Orthology (KO) More...KOⁱ	K10179
OMAⁱ	TTEHPYK
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0I8R
PhylomeDBⁱ	Q99593
TreeFamⁱ	TF106341

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00182 TBOX, 1 hit
Gene3Dⁱ	2.60.40.820, 1 hit
InterProⁱ	View protein in InterPro IPR008967 p53-like_TF_DNA-bd IPR036960 T-box_sf IPR001699 TF_T-box IPR018186 TF_T-box_CS
PANTHERⁱ	PTHR11267 PTHR11267, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00907 T-box, 1 hit
PRINTSⁱ	PR00937 TBOX
SMARTⁱ	View protein in SMART SM00425 TBOX, 1 hit
SUPFAMⁱ	SSF49417 SSF49417, 1 hit
PROSITEⁱ	View protein in PROSITE PS01283 TBOX_1, 1 hit PS01264 TBOX_2, 1 hit PS50252 TBOX_3, 1 hit

Sequences (3)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

Isoform 1 (identifier: Q99593-1) [UniParc]FASTA Add to basket

Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG 
        60         70         80         90        100
MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY 
       110        120        130        140        150
ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR 
       160        170        180        190        200
QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA 
       210        220        230        240        250
FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM 
       260        270        280        290        300
QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 
       310        320        330        340        350
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE 
       360        370        380        390        400
DSFYRSSYPQ QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT 
       410        420        430        440        450
WPSMPSYSSC TVTTVQPMDR LPYQHFSAHF TSGPLVPRLA GMANHGSPQL 
       460        470        480        490        500
GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG TLQPPEFLYS HGVPRTLSPH 
       510 
QYHSVHGVGM VPEWSDNS

Length:518

Mass (Da):57,711

Last modified:December 1, 2000 - v2

Checksum:ⁱ70118AD84FF5C00F

GO

Isoform 2 (identifier: Q99593-2) [UniParc]FASTA Add to basket

Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
328-349: EEECSTTDHPYKKPYMETSPSE → GECDHPWSICFLSYLFLSLGWG
350-518: Missing.

« Hide

        10         20         30         40         50
MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG 
        60         70         80         90        100
MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY 
       110        120        130        140        150
ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR 
       160        170        180        190        200
QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA 
       210        220        230        240        250
FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM 
       260        270        280        290        300
QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 
       310        320        330        340 
SQDLLPPPNP YPLPQEHSQI YHCTKRKGEC DHPWSICFLS YLFLSLGWG

Show »

Length:349

Mass (Da):39,196

Checksum:ⁱ50CE556CD97ACD76

GO

Isoform 3 (identifier: Q99593-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-50: Missing.

« Hide

        10         20         30         40         50
MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY 
        60         70         80         90        100
ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR 
       110        120        130        140        150
QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA 
       160        170        180        190        200
FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM 
       210        220        230        240        250
QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 
       260        270        280        290        300
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE 
       310        320        330        340        350
DSFYRSSYPQ QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT 
       360        370        380        390        400
WPSMPSYSSC TVTTVQPMDR LPYQHFSAHF TSGPLVPRLA GMANHGSPQL 
       410        420        430        440        450
GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG TLQPPEFLYS HGVPRTLSPH 
       460 
QYHSVHGVGM VPEWSDNS

Show »

Length:468

Mass (Da):52,659

Checksum:ⁱF0434B124BB31A5A

GO

Sequence cautionⁱ

The sequence BAB55448 differs from that shown. Reason: Frameshift at position 360.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	7 – 49	GFGLA…AFTQQ → ALAGAHLWSLTQKTCLRFEP RARSGPPASPPGRPRSRLHP A in CAA70592 (PubMed:8988164).CuratedAdd BLAST	43
Sequence conflictⁱ	71	Missing in CAA70592 (PubMed:8988164).Curated	1
Sequence conflictⁱ	94	L → I in CAA70592 (PubMed:8988164).Curated	1
Sequence conflictⁱ	122	S → C in CAA70592 (PubMed:8988164).Curated	1
Sequence conflictⁱ	132	P → A in CAA70592 (PubMed:8988164).Curated	1
Sequence conflictⁱ	418 – 460	MDRLP…QHQTS → WTGYPTSTSPLTSPRGPWSL GWLAWQPWLPTAGRGNVPST RPP in CAA70592 (PubMed:8988164).CuratedAdd BLAST	43
Sequence conflictⁱ	468 – 470	RQC → SSV in CAA70592 (PubMed:8988164).Curated	3
Sequence conflictⁱ	494 – 518	PRTLS…WSDNS → QGLYPLISTTLCTELAWCRV ERQ in CAA70592 (PubMed:8988164).CuratedAdd BLAST	25

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_015381	49	Q → K in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894383EnsemblClinVar.	1
Natural variantⁱVAR_015382	54	I → T in HOS. 1 PublicationCorresponds to variant dbSNP:rs104894384EnsemblClinVar.	1
Natural variantⁱVAR_009701	80	G → R in HOS; significant cardiac malformations but only minor skeletal abnormalities; reduced protein stability and strongly reduced affinity for DNA. 2 PublicationsCorresponds to variant dbSNP:rs104894381EnsemblClinVar.	1
Natural variantⁱVAR_076673	132	P → S Probable disease-associated mutation found in a patient with atrial fibrillation; reduces transcriptional activity; affects transcriptional regulation of NKX2-5. 1 Publication	1
Natural variantⁱVAR_074599	143	A → T Probable disease-associated mutation found in a patient with sporadic dilated cardiomyopathy; associated with disease susceptibility; associated with significantly decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs374906778Ensembl.	1
Natural variantⁱVAR_074600	154	S → A Probable disease-associated mutation found in patients with familial dilated cardiomyopathy; associated with disease susceptibility; associated with significantly decreased transcriptional activity. 1 Publication	1
Natural variantⁱVAR_076642	170	H → D Probable disease-associated mutation found in a patient with atrial fibrillation; reduces transcriptional activity; affects transcriptional regulation of NKX2-5 or GATA4. 1 Publication	1
Natural variantⁱVAR_007456	237	R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 3 PublicationsCorresponds to variant dbSNP:rs104894378EnsemblClinVar.	1
Natural variantⁱVAR_009702	237	R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. 2 PublicationsCorresponds to variant dbSNP:rs104894382EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_046845	1 – 50	Missing in isoform 3. 1 PublicationAdd BLAST	50
Alternative sequenceⁱVSP_006387	328 – 349	EEECS…TSPSE → GECDHPWSICFLSYLFLSLG WG in isoform 2. 1 PublicationAdd BLAST	22
Alternative sequenceⁱVSP_006388	350 – 518	Missing in isoform 2. 1 PublicationAdd BLAST	169

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	Y09445 mRNA Translation: CAA70592.1 U80987 mRNA Translation: AAC51644.1 U89353 mRNA Translation: AAC04619.1 AF221714 mRNA Translation: AAF34659.1 AB051068 mRNA Translation: BAB55448.1 Frameshift. AC009260 Genomic DNA No translation available. AC069240 Genomic DNA No translation available. CH471054 Genomic DNA Translation: EAW98066.1 BC027942 mRNA Translation: AAH27942.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS9173.1 [Q99593-1] CCDS9174.1 [Q99593-3]
NCBI Reference Sequences More...RefSeqⁱ	NP_000183.2, NM_000192.3 [Q99593-1] NP_542448.1, NM_080717.2 [Q99593-3] NP_852259.1, NM_181486.2 [Q99593-1]
UniGeneⁱ	Hs.381715

Genome annotation databases

Ensemblⁱ	ENST00000310346; ENSP00000309913; ENSG00000089225 [Q99593-1] ENST00000349716; ENSP00000337723; ENSG00000089225 [Q99593-3] ENST00000405440; ENSP00000384152; ENSG00000089225 [Q99593-1] ENST00000526441; ENSP00000433292; ENSG00000089225 [Q99593-2]
GeneIDⁱ	6910
KEGGⁱ	hsa:6910
UCSC genome browser More...UCSCⁱ	uc001tvo.5 human [Q99593-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q99593	T-box 5		PONAB		518	UniRef100_Q99593
Uncharacterized protein		RHIRO		518
Uncharacterized protein		CHLSB		518
T-box 5		GORGO		518
Uncharacterized protein		RHIBE		518
+4

Protein	Similar proteins		Species	Score	Length	Source
Q99593	T-box transcription factor TBX5	)	MOUSE		518	UniRef90_Q99593
T-box 5		PONAB		518
Uncharacterized protein		RHIRO		518
Uncharacterized protein		CHLSB		518
T-box 5		GORGO		518
+63
Q99593-2	TBX5 isoform 4		PONAB		361	UniRef90_Q99593-2
Uncharacterized protein		RHIRO		349
TBX5 isoform 5		PANTR		349
Uncharacterized protein		AOTNA		348
Uncharacterized protein		CALJA		348
+1

Protein	Similar proteins		Species	Score	Length	Source
Q99593	T-box transcription factor TBX5	)	MOUSE		518	UniRef50_Q99593
T-box transcription factor TBX5		RAT		517
T-box transcription factor TBX5		CHICK		521
T-box 5		PONAB		518
Uncharacterized protein		RHIRO		518
+409
Q99593-2	TBX5 isoform 4		PONAB		361	UniRef50_Q99593-2
TBX5 isoform 5		PANTR		349
Uncharacterized protein		RHIRO		349
Uncharacterized protein		AOTNA		348
Uncharacterized protein		CALJA		348
+4

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	Y09445 mRNA Translation: CAA70592.1 U80987 mRNA Translation: AAC51644.1 U89353 mRNA Translation: AAC04619.1 AF221714 mRNA Translation: AAF34659.1 AB051068 mRNA Translation: BAB55448.1 Frameshift. AC009260 Genomic DNA No translation available. AC069240 Genomic DNA No translation available. CH471054 Genomic DNA Translation: EAW98066.1 BC027942 mRNA Translation: AAH27942.1
CCDSⁱ	CCDS9173.1 [Q99593-1] CCDS9174.1 [Q99593-3]
RefSeqⁱ	NP_000183.2, NM_000192.3 [Q99593-1] NP_542448.1, NM_080717.2 [Q99593-3] NP_852259.1, NM_181486.2 [Q99593-1]
UniGeneⁱ	Hs.381715

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2X6U	X-ray	1.90	A	51-251	[»]
	2X6V	X-ray	2.20	A/B	51-251	[»]
	4S0H	X-ray	2.82	A/E	53-238	[»]
	5BQD	X-ray	2.58	A/B	1-239	[»]
ProteinModelPortalⁱ	Q99593
SMRⁱ	Q99593
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	112773, 7 interactors
CORUMⁱ	Q99593
IntActⁱ	Q99593, 9 interactors
STRINGⁱ	9606.ENSP00000309913

Chemistry databases

ChEMBLⁱ	CHEMBL1687681

ChEMBLⁱ

CHEMBL1687681

PTM databases

iPTMnetⁱ	Q99593
PhosphoSitePlusⁱ	Q99593

Polymorphism and mutation databases

BioMutaⁱ	TBX5
DMDMⁱ	12644474

Proteomic databases

EPDⁱ	Q99593
PaxDbⁱ	Q99593
PeptideAtlasⁱ	Q99593
PRIDEⁱ	Q99593
ProteomicsDBⁱ	78347 78348 [Q99593-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	6910
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000310346; ENSP00000309913; ENSG00000089225 [Q99593-1] ENST00000349716; ENSP00000337723; ENSG00000089225 [Q99593-3] ENST00000405440; ENSP00000384152; ENSG00000089225 [Q99593-1] ENST00000526441; ENSP00000433292; ENSG00000089225 [Q99593-2]
GeneIDⁱ	6910
KEGGⁱ	hsa:6910
UCSCⁱ	uc001tvo.5 human [Q99593-1]

Organism-specific databases

CTDⁱ	6910
DisGeNETⁱ	6910
EuPathDBⁱ	HostDB:ENSG00000089225.19
GeneCardsⁱ	TBX5
GeneReviewsⁱ	TBX5
HGNCⁱ	HGNC:11604 TBX5
HPAⁱ	HPA008786 HPA064683
MalaCardsⁱ	TBX5
MIMⁱ	142900 phenotype 601620 gene
neXtProtⁱ	NX_Q99593
OpenTargetsⁱ	ENSG00000089225
Orphanetⁱ	392 Holt-Oram syndrome
PharmGKBⁱ	PA36367
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3585 Eukaryota ENOG410XSTS LUCA
GeneTreeⁱ	ENSGT00760000118897
HOGENOMⁱ	HOG000286001
HOVERGENⁱ	HBG007310
InParanoidⁱ	Q99593
KOⁱ	K10179
OMAⁱ	TTEHPYK
OrthoDBⁱ	EOG091G0I8R
PhylomeDBⁱ	Q99593
TreeFamⁱ	TF106341

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression R-HSA-5578768 Physiological factors
SIGNORⁱ	Q99593

Miscellaneous databases

EvolutionaryTraceⁱ	Q99593
GeneWikiⁱ	TBX5_(gene)
GenomeRNAiⁱ	6910
Protein Ontology More...PROⁱ	PR:Q99593
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000089225 Expressed in 112 organ(s), highest expression level in tendon of biceps brachii
CleanExⁱ	HS_TBX5
Genevisibleⁱ	Q99593 HS

Family and domain databases

CDDⁱ	cd00182 TBOX, 1 hit
Gene3Dⁱ	2.60.40.820, 1 hit
InterProⁱ	View protein in InterPro IPR008967 p53-like_TF_DNA-bd IPR036960 T-box_sf IPR001699 TF_T-box IPR018186 TF_T-box_CS
PANTHERⁱ	PTHR11267 PTHR11267, 1 hit
Pfamⁱ	View protein in Pfam PF00907 T-box, 1 hit
PRINTSⁱ	PR00937 TBOX
SMARTⁱ	View protein in SMART SM00425 TBOX, 1 hit
SUPFAMⁱ	SSF49417 SSF49417, 1 hit
PROSITEⁱ	View protein in PROSITE PS01283 TBOX_1, 1 hit PS01264 TBOX_2, 1 hit PS50252 TBOX_3, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TBX5_HUMAN
Accessionⁱ	Q99593Primary (citable) accession number: Q99593 Secondary accession number(s): A6ND77 , O15301, Q96TB0, Q9Y4I2
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
	Last sequence update:	December 1, 2000
	Last modified:	November 7, 2018
	This is version 184 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM

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UniProtKB - Q99593 (TBX5_HUMAN)

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T-box transcription factor TBX5

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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GO - Biological processi

Enzyme and pathway databases

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Gene expression databases

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<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ