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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 (PubMed:24000169). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, spingosine-1-phosphate lyase (PubMed:15734735).By similarity4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri217 – 241GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri271 – 295GATA-type 2PROSITE-ProRule annotationAdd BLAST25

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

BioCyciZFISH:ENSG00000136574-MONOMER.
ReactomeiR-HSA-2032785. YAP1- and WWTR1 (TAZ)-stimulated gene expression.
R-HSA-400511. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
R-HSA-5578768. Physiological factors.
R-HSA-983231. Factors involved in megakaryocyte development and platelet production.
SignaLinkiP43694.
SIGNORiP43694.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:4173. GATA4.

Subcellular locationi

GO - Cellular componenti

  • 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_03819552S → F in ASD2. 1 PublicationCorresponds to variant rs104894074dbSNPEnsembl.1
Natural variantiVAR_06760893G → A in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant rs56191129dbSNPEnsembl.1
Natural variantiVAR_067611280T → M in ASD2. 1 PublicationCorresponds to variant rs387906771dbSNPEnsembl.1
Natural variantiVAR_067612296G → C in ASD2. 1 PublicationCorresponds to variant rs104894073dbSNPEnsembl.1
Natural variantiVAR_016204296G → S in ASD2. 2 PublicationsCorresponds to variant rs104894073dbSNPEnsembl.1
Natural variantiVAR_067614310M → V in ASD2. 1 PublicationCorresponds to variant rs387906772dbSNPEnsembl.1
Natural variantiVAR_067615316Q → E in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant rs56298569dbSNPEnsembl.1
Natural variantiVAR_067618403L → M in ASD2. 1 PublicationCorresponds to variant rs777778466dbSNPEnsembl.1
Ventricular septal defect 1 (VSD1)4 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0676056A → V in VSD1. 1 PublicationCorresponds to variant rs199922907dbSNPEnsembl.1
Natural variantiVAR_06760643R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 PublicationCorresponds to variant rs387906770dbSNPEnsembl.1
Natural variantiVAR_06760746Missing in VSD1. 1 Publication1
Natural variantiVAR_067610163P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant rs387906769dbSNPEnsembl.1
Natural variantiVAR_067613296G → R in VSD1. 1 PublicationCorresponds to variant rs104894073dbSNPEnsembl.1
Natural variantiVAR_067617359E → K in VSD1. 1 PublicationCorresponds to variant rs368489876dbSNPEnsembl.1
Natural variantiVAR_067619407P → Q in VSD1 and TOF. 2 PublicationsCorresponds to variant rs115099192dbSNPEnsembl.1
Natural variantiVAR_067622429S → T in VSD1. 1 Publication1
Natural variantiVAR_067623442A → V in VSD1. 1 PublicationCorresponds to variant rs146017816dbSNPEnsembl.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0715149A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_07151551L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_067609118A → AA in TOF. 1 Publication1
Natural variantiVAR_067610163P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant rs387906769dbSNPEnsembl.1
Natural variantiVAR_071516285N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication1
Natural variantiVAR_067619407P → Q in VSD1 and TOF. 2 PublicationsCorresponds to variant rs115099192dbSNPEnsembl.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_067610163P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant rs387906769dbSNPEnsembl.1
Natural variantiVAR_067616346A → V in AVSD4. 1 PublicationCorresponds to variant rs115372595dbSNPEnsembl.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_070670221G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene; abolishes interaction with ZFPM2. 1 PublicationCorresponds to variant rs398122402dbSNPEnsembl.1

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

DisGeNETi2626.
MalaCardsiGATA4.
MIMi187500. phenotype.
607941. phenotype.
614429. phenotype.
614430. phenotype.
615542. phenotype.
OpenTargetsiENSG00000136574.
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.

Chemistry databases

ChEMBLiCHEMBL1687679.

Polymorphism and mutation databases

BioMutaiGATA4.
DMDMi215274105.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000834131 – 442Transcription factor GATA-4Add BLAST442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei300N6-methyllysine; by EZH2By similarity1

Post-translational modificationi

Methylation at Lys-300 attenuates transcriptional activity.By similarity

Keywords - PTMi

Methylation

Proteomic databases

EPDiP43694.
MaxQBiP43694.
PaxDbiP43694.
PeptideAtlasiP43694.
PRIDEiP43694.

PTM databases

iPTMnetiP43694.
PhosphoSitePlusiP43694.

Expressioni

Gene expression databases

BgeeiENSG00000136574.
CleanExiHS_GATA4.
ExpressionAtlasiP43694. baseline and differential.
GenevisibleiP43694. HS.

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

GO - Molecular functioni

  • activating transcription factor binding Source: BHF-UCL
  • co-SMAD binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: GO_Central
  • transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108896. 24 interactors.
IntActiP43694. 2 interactors.
MINTiMINT-3379484.
STRINGi9606.ENSP00000334458.

Structurei

Secondary structure

1442
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni272 – 274Combined sources3
Beta strandi282 – 284Combined sources3
Beta strandi290 – 292Combined sources3
Helixi293 – 301Combined sources9

3D structure databases

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

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi118 – 126Poly-Ala9
Compositional biasi174 – 181Poly-Ala8
Compositional biasi276 – 280Poly-Thr5

Sequence similaritiesi

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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri217 – 241GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri271 – 295GATA-type 2PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1601. Eukaryota.
COG5641. LUCA.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiP43694.
KOiK09183.
OMAiSPGWSQA.
OrthoDBiEOG091G0AUR.
PhylomeDBiP43694.
TreeFamiTF315391.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR028436. GATA_4/pnr.
IPR008013. GATA_N.
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)DescriptionActionsGraphical viewLength
Sequence conflicti19E → Q in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti25A → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti66A → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti71S → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti95D → T in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti280T → A in AAW51922 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0676056A → V in VSD1. 1 PublicationCorresponds to variant rs199922907dbSNPEnsembl.1
Natural variantiVAR_0715149A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_07211139V → L Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 2 PublicationsCorresponds to variant rs1139241dbSNPEnsembl.1
Natural variantiVAR_06760643R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 PublicationCorresponds to variant rs387906770dbSNPEnsembl.1
Natural variantiVAR_06760746Missing in VSD1. 1 Publication1
Natural variantiVAR_07151551L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_03819552S → F in ASD2. 1 PublicationCorresponds to variant rs104894074dbSNPEnsembl.1
Natural variantiVAR_06760893G → A in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant rs56191129dbSNPEnsembl.1
Natural variantiVAR_067609118A → AA in TOF. 1 Publication1
Natural variantiVAR_067610163P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant rs387906769dbSNPEnsembl.1
Natural variantiVAR_070670221G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene; abolishes interaction with ZFPM2. 1 PublicationCorresponds to variant rs398122402dbSNPEnsembl.1
Natural variantiVAR_072112226P → Q Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_072113271C → S Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_072114279T → S Probable-disease associated mutation found in CMD patients; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_067611280T → M in ASD2. 1 PublicationCorresponds to variant rs387906771dbSNPEnsembl.1
Natural variantiVAR_071516285N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication1
Natural variantiVAR_067612296G → C in ASD2. 1 PublicationCorresponds to variant rs104894073dbSNPEnsembl.1
Natural variantiVAR_067613296G → R in VSD1. 1 PublicationCorresponds to variant rs104894073dbSNPEnsembl.1
Natural variantiVAR_016204296G → S in ASD2. 2 PublicationsCorresponds to variant rs104894073dbSNPEnsembl.1
Natural variantiVAR_067614310M → V in ASD2. 1 PublicationCorresponds to variant rs387906772dbSNPEnsembl.1
Natural variantiVAR_067615316Q → E in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant rs56298569dbSNPEnsembl.1
Natural variantiVAR_067616346A → V in AVSD4. 1 PublicationCorresponds to variant rs115372595dbSNPEnsembl.1
Natural variantiVAR_067617359E → K in VSD1. 1 PublicationCorresponds to variant rs368489876dbSNPEnsembl.1
Natural variantiVAR_038196377S → G.Corresponds to variant rs3729856dbSNPEnsembl.1
Natural variantiVAR_067618403L → M in ASD2. 1 PublicationCorresponds to variant rs777778466dbSNPEnsembl.1
Natural variantiVAR_067619407P → Q in VSD1 and TOF. 2 PublicationsCorresponds to variant rs115099192dbSNPEnsembl.1
Natural variantiVAR_067620411A → V.1 PublicationCorresponds to variant rs55633527dbSNPEnsembl.1
Natural variantiVAR_067621425D → N.2 PublicationsCorresponds to variant rs56208331dbSNPEnsembl.1
Natural variantiVAR_067622429S → T in VSD1. 1 Publication1
Natural variantiVAR_067623442A → V in VSD1. 1 PublicationCorresponds to variant rs146017816dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055082205L → LV in isoform 2. 1 Publication1

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]
CCDS78303.1. [P43694-2]
RefSeqiNP_001295022.1. NM_001308093.1. [P43694-2]
NP_002043.2. NM_002052.4. [P43694-1]
XP_005272442.1. XM_005272385.4. [P43694-2]
XP_005272443.1. XM_005272386.1. [P43694-2]
XP_006716311.1. XM_006716248.1. [P43694-2]
XP_011542119.1. XM_011543817.2. [P43694-2]
XP_011542120.1. XM_011543818.2. [P43694-2]
XP_016868801.1. XM_017013312.1. [P43694-2]
UniGeneiHs.243987.

Genome annotation databases

EnsembliENST00000335135; ENSP00000334458; ENSG00000136574. [P43694-1]
ENST00000532059; ENSP00000435712; ENSG00000136574. [P43694-2]
GeneIDi2626.
KEGGihsa:2626.
UCSCiuc003wuc.3. human. [P43694-1]

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]
CCDS78303.1. [P43694-2]
RefSeqiNP_001295022.1. NM_001308093.1. [P43694-2]
NP_002043.2. NM_002052.4. [P43694-1]
XP_005272442.1. XM_005272385.4. [P43694-2]
XP_005272443.1. XM_005272386.1. [P43694-2]
XP_006716311.1. XM_006716248.1. [P43694-2]
XP_011542119.1. XM_011543817.2. [P43694-2]
XP_011542120.1. XM_011543818.2. [P43694-2]
XP_016868801.1. XM_017013312.1. [P43694-2]
UniGeneiHs.243987.

3D structure databases

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

Protein-protein interaction databases

BioGridi108896. 24 interactors.
IntActiP43694. 2 interactors.
MINTiMINT-3379484.
STRINGi9606.ENSP00000334458.

Chemistry databases

ChEMBLiCHEMBL1687679.

PTM databases

iPTMnetiP43694.
PhosphoSitePlusiP43694.

Polymorphism and mutation databases

BioMutaiGATA4.
DMDMi215274105.

Proteomic databases

EPDiP43694.
MaxQBiP43694.
PaxDbiP43694.
PeptideAtlasiP43694.
PRIDEiP43694.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335135; ENSP00000334458; ENSG00000136574. [P43694-1]
ENST00000532059; ENSP00000435712; ENSG00000136574. [P43694-2]
GeneIDi2626.
KEGGihsa:2626.
UCSCiuc003wuc.3. human. [P43694-1]

Organism-specific databases

CTDi2626.
DisGeNETi2626.
GeneCardsiGATA4.
HGNCiHGNC:4173. GATA4.
HPAiCAB013125.
MalaCardsiGATA4.
MIMi187500. phenotype.
600576. gene.
607941. phenotype.
614429. phenotype.
614430. phenotype.
615542. phenotype.
neXtProtiNX_P43694.
OpenTargetsiENSG00000136574.
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

eggNOGiKOG1601. Eukaryota.
COG5641. LUCA.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiP43694.
KOiK09183.
OMAiSPGWSQA.
OrthoDBiEOG091G0AUR.
PhylomeDBiP43694.
TreeFamiTF315391.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136574-MONOMER.
ReactomeiR-HSA-2032785. YAP1- and WWTR1 (TAZ)-stimulated gene expression.
R-HSA-400511. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
R-HSA-5578768. Physiological factors.
R-HSA-983231. Factors involved in megakaryocyte development and platelet production.
SignaLinkiP43694.
SIGNORiP43694.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000136574.
CleanExiHS_GATA4.
ExpressionAtlasiP43694. baseline and differential.
GenevisibleiP43694. HS.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR028436. GATA_4/pnr.
IPR008013. GATA_N.
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...

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: November 30, 2016
This is version 168 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

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 one 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.