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Protein

Transcription factor GATA-4

Gene

GATA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development. Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions. Acts as a transcriptional activator of ANF in cooperation with NKX2-5. Promotes cardiac myocyte enlargement. Required during testicular development.3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri217 – 24125GATA-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri271 – 29525GATA-type 2PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_118713. YAP1- and WWTR1 (TAZ)-stimulated gene expression.
REACT_23824. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
REACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinkiP43694.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor GATA-4
Alternative name(s):
GATA-binding factor 4
Gene namesi
Name:GATA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:4173. GATA4.

Subcellular locationi

GO - Cellular componenti

  • nuclear chromatin Source: Ensembl
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • RNA polymerase II transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Atrial septal defect 2 (ASD2)6 Publications

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

Disease descriptionA congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities.

See also OMIM:607941
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521S → F in ASD2. 1 Publication
VAR_038195
Natural varianti93 – 931G → A in ASD2; uncertain pathological significance. 1 Publication
VAR_067608
Natural varianti280 – 2801T → M in ASD2. 1 Publication
VAR_067611
Natural varianti296 – 2961G → C in ASD2. 1 Publication
VAR_067612
Natural varianti296 – 2961G → S in ASD2. 2 Publications
VAR_016204
Natural varianti310 – 3101M → V in ASD2. 1 Publication
VAR_067614
Natural varianti316 – 3161Q → E in ASD2. 1 Publication
VAR_067615
Natural varianti403 – 4031L → M in ASD2. 1 Publication
VAR_067618
Natural varianti425 – 4251D → N in ASD2; also found in a patient with TOF. 1 Publication
VAR_067621
Ventricular septal defect 1 (VSD1)5 Publications

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

Disease descriptionA common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.

See also OMIM:614429
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61A → V in VSD1. 1 Publication
Corresponds to variant rs199922907 [ dbSNP | Ensembl ].
VAR_067605
Natural varianti43 – 431R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 Publication
VAR_067606
Natural varianti46 – 461Missing in VSD1. 1 Publication
VAR_067607
Natural varianti163 – 1631P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 Publications
VAR_067610
Natural varianti296 – 2961G → R in VSD1. 1 Publication
VAR_067613
Natural varianti359 – 3591E → K in VSD1. 1 Publication
VAR_067617
Natural varianti407 – 4071P → Q in VSD1 and TOF. 2 Publications
Corresponds to variant rs115099192 [ dbSNP | Ensembl ].
VAR_067619
Natural varianti411 – 4111A → V in VSD1; uncertain pathological significance. 1 Publication
Corresponds to variant rs55633527 [ dbSNP | Ensembl ].
VAR_067620
Natural varianti429 – 4291S → T in VSD1. 1 Publication
VAR_067622
Natural varianti442 – 4421A → V in VSD1. 1 Publication
VAR_067623
Tetralogy of Fallot (TOF)3 Publications

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

Disease descriptionA congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.

See also OMIM:187500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication
VAR_071514
Natural varianti51 – 511L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication
VAR_071515
Natural varianti118 – 1181A → AA in TOF. 1 Publication
VAR_067609
Natural varianti163 – 1631P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 Publications
VAR_067610
Natural varianti285 – 2851N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication
VAR_071516
Natural varianti407 – 4071P → Q in VSD1 and TOF. 2 Publications
Corresponds to variant rs115099192 [ dbSNP | Ensembl ].
VAR_067619
Natural varianti425 – 4251D → N in ASD2; also found in a patient with TOF. 1 Publication
VAR_067621
Atrioventricular septal defect 4 (AVSD4)1 Publication

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

Disease descriptionA congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

See also OMIM:614430
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti163 – 1631P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 Publications
VAR_067610
Natural varianti346 – 3461A → V in AVSD4. 1 Publication
Corresponds to variant rs115372595 [ dbSNP | Ensembl ].
VAR_067616
Testicular anomalies with or without congenital heart disease (TACHD)1 Publication

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

Disease descriptionA 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads.

See also OMIM:615542
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti221 – 2211G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene. Abolishes interaction with ZFPM2. 1 Publication
VAR_070670

GATA4 mutations can predispose to dilated cardiomyopathy (CMD), a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi187500. phenotype.
607941. phenotype.
614429. phenotype.
614430. phenotype.
615542. phenotype.
Orphaneti251510. 46,XY partial gonadal dysgenesis.
251071. 8p23.1 microdeletion syndrome.
99103. Atrial septal defect, ostium secundum type.
99068. Complete atrioventricular canal - Fallot tetralogy.
99066. Complete atrioventricular canal - left heart obstruction.
99067. Complete atrioventricular canal - ventricle hypoplasia.
334. Familial atrial fibrillation.
1330. Partial atrioventricular canal.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBiPA28587.

Polymorphism and mutation databases

BioMutaiGATA4.
DMDMi215274105.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 442442Transcription factor GATA-4PRO_0000083413Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei300 – 3001N6-methyllysine; by EZH2By similarity

Post-translational modificationi

Methylation at Lys-300 attenuates transcriptional activity.By similarity

Keywords - PTMi

Methylation

Proteomic databases

MaxQBiP43694.
PaxDbiP43694.
PRIDEiP43694.

PTM databases

PhosphoSiteiP43694.

Expressioni

Gene expression databases

BgeeiP43694.
CleanExiHS_GATA4.
ExpressionAtlasiP43694. baseline and differential.
GenevestigatoriP43694.

Organism-specific databases

HPAiCAB013125.

Interactioni

Subunit structurei

Interacts with ZNF260 (By similarity). Interacts with the homeobox domain of NKX2-5 through its C-terminal zinc finger. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with NFATC4 and LMCD1 (By similarity). Forms a complex made of CDK9, CCNT1/cyclin-T1, EP300 and GATA4 that stimulates hypertrophy in cardiomyocytes. Interacts with NR5A1, ZFPM2 and TBX5. Interacts with TBX18.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
KLF13Q9Y2Y93EBI-7049352,EBI-1255893

Protein-protein interaction databases

BioGridi108896. 23 interactions.
IntActiP43694. 1 interaction.
MINTiMINT-3379484.
STRINGi9606.ENSP00000334458.

Structurei

Secondary structure

1
442
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni272 – 2743Combined sources
Beta strandi282 – 2843Combined sources
Beta strandi290 – 2923Combined sources
Helixi293 – 3019Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2M9WNMR-A262-321[»]
ProteinModelPortaliP43694.
SMRiP43694. Positions 213-321.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi118 – 1269Poly-Ala
Compositional biasi174 – 1818Poly-Ala
Compositional biasi276 – 2805Poly-Thr

Sequence similaritiesi

Contains 2 GATA-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri217 – 24125GATA-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri271 – 29525GATA-type 2PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5641.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiP43694.
KOiK09183.
OMAiSPGWSQA.
PhylomeDBiP43694.
TreeFamiTF315391.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR008013. GATA_N.
IPR028436. TF_GATA_4.
IPR016375. TF_GATA_4/5/6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF154. PTHR10071:SF154. 1 hit.
PfamiPF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view]
PIRSFiPIRSF003028. TF_GATA_4/5/6. 1 hit.
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEiPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P43694-1) [UniParc]FASTAAdd to basket

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
MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG
60 70 80 90 100
LSYLQGGGAG SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT
110 120 130 140 150
PPPVSPRFSF PGTTGSLAAA AAAAAAREAA AYSSGGGAAG AGLAGREQYG
160 170 180 190 200
RAGFAGSYSS PYPAYMADVG ASWAAAAAAS AGPFDSPVLH SLPGRANPAA
210 220 230 240 250
RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA CGLYHKMNGI
260 270 280 290 300
NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK
310 320 330 340 350
LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS
360 370 380 390 400
SNATTSSSEE MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL
410 420 430 440
SALKLSPQGY ASPVSQSPQT SSKQDSWNSL VLADSHGDII TA
Length:442
Mass (Da):44,565
Last modified:November 25, 2008 - v2
Checksum:i141B8CD841E12C7B
GO
Isoform 2 (identifier: P43694-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-205: L → LV

Note: No experimental confirmation available.

Show »
Length:443
Mass (Da):44,665
Checksum:iA9F8C9CA00F3B9AD
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 191E → Q in AAA58496 (PubMed:7721094).Curated
Sequence conflicti25 – 251A → P in AAA58496 (PubMed:7721094).Curated
Sequence conflicti66 – 661A → P in AAA58496 (PubMed:7721094).Curated
Sequence conflicti71 – 711S → P in AAA58496 (PubMed:7721094).Curated
Sequence conflicti95 – 951D → T in AAA58496 (PubMed:7721094).Curated
Sequence conflicti280 – 2801T → A in AAW51922 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61A → V in VSD1. 1 Publication
Corresponds to variant rs199922907 [ dbSNP | Ensembl ].
VAR_067605
Natural varianti9 – 91A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication
VAR_071514
Natural varianti39 – 391V → L Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 2 Publications
VAR_072111
Natural varianti43 – 431R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 Publication
VAR_067606
Natural varianti46 – 461Missing in VSD1. 1 Publication
VAR_067607
Natural varianti51 – 511L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication
VAR_071515
Natural varianti52 – 521S → F in ASD2. 1 Publication
VAR_038195
Natural varianti93 – 931G → A in ASD2; uncertain pathological significance. 1 Publication
VAR_067608
Natural varianti118 – 1181A → AA in TOF. 1 Publication
VAR_067609
Natural varianti163 – 1631P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 Publications
VAR_067610
Natural varianti221 – 2211G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene. Abolishes interaction with ZFPM2. 1 Publication
VAR_070670
Natural varianti226 – 2261P → Q Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication
VAR_072112
Natural varianti271 – 2711C → S Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication
VAR_072113
Natural varianti279 – 2791T → S Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication
VAR_072114
Natural varianti280 – 2801T → M in ASD2. 1 Publication
VAR_067611
Natural varianti285 – 2851N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication
VAR_071516
Natural varianti296 – 2961G → C in ASD2. 1 Publication
VAR_067612
Natural varianti296 – 2961G → R in VSD1. 1 Publication
VAR_067613
Natural varianti296 – 2961G → S in ASD2. 2 Publications
VAR_016204
Natural varianti310 – 3101M → V in ASD2. 1 Publication
VAR_067614
Natural varianti316 – 3161Q → E in ASD2. 1 Publication
VAR_067615
Natural varianti346 – 3461A → V in AVSD4. 1 Publication
Corresponds to variant rs115372595 [ dbSNP | Ensembl ].
VAR_067616
Natural varianti359 – 3591E → K in VSD1. 1 Publication
VAR_067617
Natural varianti377 – 3771S → G.
Corresponds to variant rs3729856 [ dbSNP | Ensembl ].
VAR_038196
Natural varianti403 – 4031L → M in ASD2. 1 Publication
VAR_067618
Natural varianti407 – 4071P → Q in VSD1 and TOF. 2 Publications
Corresponds to variant rs115099192 [ dbSNP | Ensembl ].
VAR_067619
Natural varianti411 – 4111A → V in VSD1; uncertain pathological significance. 1 Publication
Corresponds to variant rs55633527 [ dbSNP | Ensembl ].
VAR_067620
Natural varianti425 – 4251D → N in ASD2; also found in a patient with TOF. 1 Publication
VAR_067621
Natural varianti429 – 4291S → T in VSD1. 1 Publication
VAR_067622
Natural varianti442 – 4421A → V in VSD1. 1 Publication
VAR_067623

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei205 – 2051L → LV in isoform 2. 1 PublicationVSP_055082

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L34357 mRNA. Translation: AAA58496.1.
AY740706 mRNA. Translation: AAW51922.1.
AC069185 Genomic DNA. No translation available.
AC090790 Genomic DNA. No translation available.
BC101580 mRNA. Translation: AAI01581.1.
BC105108 mRNA. Translation: AAI05109.1.
BC143434 mRNA. Translation: AAI43435.1.
BC143479 mRNA. Translation: AAI43480.1.
CCDSiCCDS5983.1. [P43694-1]
RefSeqiNP_002043.2. NM_002052.3. [P43694-1]
XP_005272441.1. XM_005272384.1. [P43694-2]
XP_005272442.1. XM_005272385.3. [P43694-2]
XP_005272443.1. XM_005272386.1. [P43694-2]
XP_006716311.1. XM_006716248.1. [P43694-2]
UniGeneiHs.243987.

Genome annotation databases

EnsembliENST00000335135; ENSP00000334458; ENSG00000136574. [P43694-1]
ENST00000532059; ENSP00000435712; ENSG00000136574. [P43694-2]
GeneIDi2626.
KEGGihsa:2626.
UCSCiuc003wub.1. human. [P43694-1]
uc011kxc.1. human.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L34357 mRNA. Translation: AAA58496.1.
AY740706 mRNA. Translation: AAW51922.1.
AC069185 Genomic DNA. No translation available.
AC090790 Genomic DNA. No translation available.
BC101580 mRNA. Translation: AAI01581.1.
BC105108 mRNA. Translation: AAI05109.1.
BC143434 mRNA. Translation: AAI43435.1.
BC143479 mRNA. Translation: AAI43480.1.
CCDSiCCDS5983.1. [P43694-1]
RefSeqiNP_002043.2. NM_002052.3. [P43694-1]
XP_005272441.1. XM_005272384.1. [P43694-2]
XP_005272442.1. XM_005272385.3. [P43694-2]
XP_005272443.1. XM_005272386.1. [P43694-2]
XP_006716311.1. XM_006716248.1. [P43694-2]
UniGeneiHs.243987.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2M9WNMR-A262-321[»]
ProteinModelPortaliP43694.
SMRiP43694. Positions 213-321.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108896. 23 interactions.
IntActiP43694. 1 interaction.
MINTiMINT-3379484.
STRINGi9606.ENSP00000334458.

Chemistry

ChEMBLiCHEMBL1687679.

PTM databases

PhosphoSiteiP43694.

Polymorphism and mutation databases

BioMutaiGATA4.
DMDMi215274105.

Proteomic databases

MaxQBiP43694.
PaxDbiP43694.
PRIDEiP43694.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335135; ENSP00000334458; ENSG00000136574. [P43694-1]
ENST00000532059; ENSP00000435712; ENSG00000136574. [P43694-2]
GeneIDi2626.
KEGGihsa:2626.
UCSCiuc003wub.1. human. [P43694-1]
uc011kxc.1. human.

Organism-specific databases

CTDi2626.
GeneCardsiGC08P011599.
HGNCiHGNC:4173. GATA4.
HPAiCAB013125.
MIMi187500. phenotype.
600576. gene.
607941. phenotype.
614429. phenotype.
614430. phenotype.
615542. phenotype.
neXtProtiNX_P43694.
Orphaneti251510. 46,XY partial gonadal dysgenesis.
251071. 8p23.1 microdeletion syndrome.
99103. Atrial septal defect, ostium secundum type.
99068. Complete atrioventricular canal - Fallot tetralogy.
99066. Complete atrioventricular canal - left heart obstruction.
99067. Complete atrioventricular canal - ventricle hypoplasia.
334. Familial atrial fibrillation.
1330. Partial atrioventricular canal.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
PharmGKBiPA28587.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5641.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiP43694.
KOiK09183.
OMAiSPGWSQA.
PhylomeDBiP43694.
TreeFamiTF315391.

Enzyme and pathway databases

ReactomeiREACT_118713. YAP1- and WWTR1 (TAZ)-stimulated gene expression.
REACT_23824. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
REACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinkiP43694.

Miscellaneous databases

ChiTaRSiGATA4. human.
GeneWikiiGATA4.
GenomeRNAii2626.
NextBioi10345.
PROiP43694.
SOURCEiSearch...

Gene expression databases

BgeeiP43694.
CleanExiHS_GATA4.
ExpressionAtlasiP43694. baseline and differential.
GenevestigatoriP43694.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR008013. GATA_N.
IPR028436. TF_GATA_4.
IPR016375. TF_GATA_4/5/6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF154. PTHR10071:SF154. 1 hit.
PfamiPF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view]
PIRSFiPIRSF003028. TF_GATA_4/5/6. 1 hit.
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEiPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA."
    Huang W.Y., Cukerman E., Liew C.C.
    Gene 155:219-223(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT LEU-39.
    Tissue: Heart.
  2. Palaszewski I., Dame C.
    Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Heart and Lung.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Cyclin-dependent kinase-9 is a component of the p300/GATA4 complex required for phenylephrine-induced hypertrophy in cardiomyocytes."
    Sunagawa Y., Morimoto T., Takaya T., Kaichi S., Wada H., Kawamura T., Fujita M., Shimatsu A., Kita T., Hasegawa K.
    J. Biol. Chem. 285:9556-9568(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN CARDIAC HYPERTROPHY, IDENTIFICATION IN COMPLEX WITH CCNT1; EP300 AND GATA4.
  7. "Loss-of-function mutation in GATA4 causes anomalies of human testicular development."
    Lourenco D., Brauner R., Rybczynska M., Nihoul-Fekete C., McElreavey K., Bashamboo A.
    Proc. Natl. Acad. Sci. U.S.A. 108:1597-1602(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING, INTERACTION WITH NR5A1 AND ZFPM2, VARIANT TACHD ARG-221, CHARACTERIZATION OF VARIANT TACHD ARG-221.
  8. Cited for: INVOLVEMENT IN CMD, VARIANT SER-271, CHARACTERIZATION OF VARIANT SER-271.
  9. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH TBX5, VARIANTS TOF PRO-9; VAL-51 AND SER-285, CHARACTERIZATION OF VARIANTS TOF PRO-9; VAL-51 AND SER-285.
  10. "Prevalence and spectrum of GATA4 mutations associated with sporadic dilated cardiomyopathy."
    Li J., Liu W.D., Yang Z.L., Yuan F., Xu L., Li R.G., Yang Y.Q.
    Gene 548:174-181(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CMD, VARIANTS LEU-39; GLN-226 AND SER-279, CHARACTERIZATION OF VARIANTS LEU-39; GLN-226 AND SER-279.
  11. "Solution NMR structure of a transcription factor gata-4 from Homo sapiens, Northeast structural genomics consortium (NESG) target HR4783B."
    Northeast structural genomics consortium (NESG)
    Submitted (JUL-2013) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 262-321.
  12. Cited for: VARIANT ASD2 SER-296.
  13. Cited for: VARIANTS ASD2 PHE-52 AND SER-296.
  14. "GATA4 sequence variants in patients with congenital heart disease."
    Tomita-Mitchell A., Maslen C.L., Morris C.D., Garg V., Goldmuntz E.
    J. Med. Genet. 44:779-783(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASD2 ALA-93; GLU-316 AND ASN-425, VARIANT VSD1 VAL-411.
  15. Cited for: VARIANTS ASD2 CYS-296 AND MET-403, VARIANTS AVSD4 SER-163 AND VAL-346.
  16. "GATA4 mutations in 486 Chinese patients with congenital heart disease."
    Zhang W., Li X., Shen A., Jiao W., Guan X., Li Z.
    Eur. J. Med. Genet. 51:527-535(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VSD1 VAL-6; SER-46 DEL; SER-163; LYS-359; THR-429 AND VAL-442, VARIANTS TOF ALA-118 INS AND GLN-407.
  17. "A novel mutation of GATA4 in a familial atrial septal defect."
    Chen Y., Mao J., Sun Y., Zhang Q., Cheng H.B., Yan W.H., Choy K.W., Li H.
    Clin. Chim. Acta 411:1741-1745(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASD2 MET-280.
  18. "Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease."
    Peng T., Wang L., Zhou S.F., Li X.
    Genetica 138:1231-1240(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VSD1 GLN-407, VARIANT TOF SER-163.
  19. "A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect."
    Chen Y., Han Z.Q., Yan W.D., Tang C.Z., Xie J.Y., Chen H., Hu D.Y.
    J. Thorac. Cardiovasc. Surg. 140:684-687(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASD2 VAL-310.
  20. "A novel GATA4 mutation responsible for congenital ventricular septal defects."
    Wang J., Fang M., Liu X.Y., Xin Y.F., Liu Z.M., Chen X.Z., Wang X.Z., Fang W.Y., Liu X., Yang Y.Q.
    Int. J. Mol. Med. 28:557-564(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VSD1 ARG-296.
  21. "A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect."
    Yang Y.Q., Li L., Wang J., Liu X.Y., Chen X.Z., Zhang W., Wang X.Z., Jiang J.Q., Liu X., Fang W.Y.
    Pediatr. Cardiol. 33:539-546(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VSD1 TRP-43, CHARACTERIZATION OF VARIANT VSD1 TRP-43.

Entry informationi

Entry nameiGATA4_HUMAN
AccessioniPrimary (citable) accession number: P43694
Secondary accession number(s): B7ZKX0
, B7ZKZ4, Q3MJ45, Q5IFM8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 25, 2008
Last modified: May 27, 2015
This is version 152 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.