UniProtKB - P43694 (GATA4_HUMAN)
Transcription factor GATA-4
GATA4
Functioni
Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724).
In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it down-regulates endocardial and endothelial gene expression (PubMed:27984724).
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 (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, sphingosine-1-phosphate lyase (PubMed:15734735).
By similarity5 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 217 – 241 | GATA-type 1PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 271 – 295 | GATA-type 2PROSITE-ProRule annotationAdd BLAST | 25 |
GO - Molecular functioni
- co-SMAD binding Source: BHF-UCL
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity Source: BHF-UCL
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- NFAT protein binding Source: Ensembl
- protein kinase binding Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: BHF-UCL
- sequence-specific DNA binding Source: BHF-UCL
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription cis-regulatory region binding Source: MGI
- zinc ion binding Source: InterPro
GO - Biological processi
- aortic valve morphogenesis Source: BHF-UCL
- atrial septum morphogenesis Source: BHF-UCL
- atrial septum primum morphogenesis Source: BHF-UCL
- atrial septum secundum morphogenesis Source: BHF-UCL
- atrioventricular canal development Source: BHF-UCL
- atrioventricular node development Source: BHF-UCL
- atrioventricular valve formation Source: BHF-UCL
- cardiac muscle tissue regeneration Source: BHF-UCL
- cardiac right ventricle morphogenesis Source: BHF-UCL
- cardiac ventricle morphogenesis Source: BHF-UCL
- cell-cell signaling Source: BHF-UCL
- cell fate commitment Source: GO_Central
- cell growth involved in cardiac muscle cell development Source: Ensembl
- cellular response to glucose stimulus Source: Ensembl
- embryonic foregut morphogenesis Source: BHF-UCL
- embryonic heart tube anterior/posterior pattern specification Source: BHF-UCL
- endocardial cushion development Source: BHF-UCL
- endoderm development Source: BHF-UCL
- heart looping Source: BHF-UCL
- intestinal epithelial cell differentiation Source: MGI
- male gonad development Source: UniProtKB
- negative regulation of apoptotic signaling pathway Source: BHF-UCL
- negative regulation of autophagy Source: Ensembl
- negative regulation of cardiac muscle cell apoptotic process Source: BHF-UCL
- negative regulation of oxidative stress-induced cell death Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- positive regulation of angiogenesis Source: BHF-UCL
- positive regulation of BMP signaling pathway Source: Ensembl
- positive regulation of cardioblast differentiation Source: BHF-UCL
- positive regulation of ERK1 and ERK2 cascade Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- positive regulation of vascular endothelial growth factor production Source: BHF-UCL
- regulation of cardiac muscle cell contraction Source: Ensembl
- regulation of protein kinase B signaling Source: BHF-UCL
- regulation of transcription, DNA-templated Source: BHF-UCL
- response to mechanical stimulus Source: Ensembl
- response to vitamin A Source: Ensembl
- response to xenobiotic stimulus Source: BHF-UCL
- transdifferentiation Source: Ensembl
- ventricular septum development Source: BHF-UCL
- wound healing Source: BHF-UCL
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | P43694 |
Reactomei | R-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-9690406, Transcriptional regulation of testis differentiation R-HSA-983231, Factors involved in megakaryocyte development and platelet production |
SignaLinki | P43694 |
SIGNORi | P43694 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor GATA-4Alternative name(s): GATA-binding factor 4 |
Gene namesi | Name:GATA4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4173, GATA4 |
MIMi | 600576, gene |
neXtProti | NX_P43694 |
VEuPathDBi | HostDB:ENSG00000136574 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
- RNA polymerase II transcription regulator complex Source: BHF-UCL
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Atrial septal defect 2 (ASD2)7 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038195 | 52 | S → F in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894074EnsemblClinVar. | 1 | |
Natural variantiVAR_067608 | 93 | G → A in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56191129EnsemblClinVar. | 1 | |
Natural variantiVAR_067611 | 280 | T → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906771Ensembl. | 1 | |
Natural variantiVAR_067612 | 296 | G → C in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894073Ensembl. | 1 | |
Natural variantiVAR_016204 | 296 | G → S in ASD2; decreased function resulting in reduced myocardial genes expression; fails to down-regulate endothelial and endocardial genes. 3 PublicationsCorresponds to variant dbSNP:rs104894073Ensembl. | 1 | |
Natural variantiVAR_067614 | 310 | M → V in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906772Ensembl. | 1 | |
Natural variantiVAR_067615 | 316 | Q → E in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56298569Ensembl. | 1 | |
Natural variantiVAR_067618 | 403 | L → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs777778466Ensembl. | 1 |
Ventricular septal defect 1 (VSD1)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067605 | 6 | A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs199922907Ensembl. | 1 | |
Natural variantiVAR_067606 | 43 | R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906770EnsemblClinVar. | 1 | |
Natural variantiVAR_067607 | 46 | Missing in VSD1. 1 Publication | 1 | |
Natural variantiVAR_067613 | 296 | G → R in VSD1. 1 PublicationCorresponds to variant dbSNP:rs104894073Ensembl. | 1 | |
Natural variantiVAR_067617 | 359 | E → K in VSD1. 1 PublicationCorresponds to variant dbSNP:rs368489876Ensembl. | 1 | |
Natural variantiVAR_067619 | 407 | P → Q in VSD1 and TOF; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs115099192Ensembl. | 1 | |
Natural variantiVAR_067622 | 429 | S → T in VSD1. 1 Publication | 1 | |
Natural variantiVAR_067623 | 442 | A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs146017816Ensembl. | 1 |
Tetralogy of Fallot (TOF)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071514 | 9 | A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 PublicationCorresponds to variant dbSNP:rs864321699Ensembl. | 1 | |
Natural variantiVAR_071515 | 51 | L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication | 1 | |
Natural variantiVAR_067609 | 118 | A → AA in TOF. 1 Publication | 1 | |
Natural variantiVAR_071516 | 285 | N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication | 1 | |
Natural variantiVAR_067619 | 407 | P → Q in VSD1 and TOF; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs115099192Ensembl. | 1 |
Atrioventricular septal defect 4 (AVSD4)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067610 | 163 | P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant dbSNP:rs387906769EnsemblClinVar. | 1 | |
Natural variantiVAR_067616 | 346 | A → V in AVSD4. 1 PublicationCorresponds to variant dbSNP:rs115372595Ensembl. | 1 |
Testicular anomalies with or without congenital heart disease (TACHD)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070670 | 221 | G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene; abolishes interaction with ZFPM2. 1 PublicationCorresponds to variant dbSNP:rs398122402Ensembl. | 1 |
Keywords - Diseasei
Atrial septal defect, Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 2626 |
MalaCardsi | GATA4 |
MIMi | 187500, phenotype 607941, phenotype 614429, phenotype 614430, phenotype 615542, phenotype |
OpenTargetsi | ENSG00000136574 |
Orphaneti | 251510, 46,XY partial gonadal dysgenesis 251071, 8p23.1 microdeletion syndrome 99103, Atrial septal defect, ostium secundum type 99067, Complete atrioventricular septal defect with ventricular hypoplasia 99068, Complete atrioventricular septal defect-tetralogy of Fallot 334, Familial atrial fibrillation 1480, NON RARE IN EUROPE: Ventricular septal defect 576232, Partial atrioventricular septal defect with ventricular hypoplasia 3303, Tetralogy of Fallot |
PharmGKBi | PA28587 |
Miscellaneous databases
Pharosi | P43694, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1687679 |
Genetic variation databases
BioMutai | GATA4 |
DMDMi | 215274105 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000083413 | 1 – 442 | Transcription factor GATA-4Add BLAST | 442 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 300 | N6-methyllysine; by EZH2By similarity | 1 |
Post-translational modificationi
Keywords - PTMi
MethylationProteomic databases
jPOSTi | P43694 |
MassIVEi | P43694 |
MaxQBi | P43694 |
PaxDbi | P43694 |
PeptideAtlasi | P43694 |
PRIDEi | P43694 |
ProteomicsDBi | 55652 [P43694-1] 7203 |
PTM databases
iPTMneti | P43694 |
PhosphoSitePlusi | P43694 |
Expressioni
Gene expression databases
Bgeei | ENSG00000136574, Expressed in female gonad and 101 other tissues |
ExpressionAtlasi | P43694, baseline and differential |
Genevisiblei | P43694, HS |
Organism-specific databases
HPAi | ENSG00000136574, Tissue enhanced (heart muscle, ovary, pancreas) |
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 (via the second Zn finger) with NFATC4 (By similarity).
Interacts with 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 PublicationsBinary interactionsi
GO - Molecular functioni
- co-SMAD binding Source: BHF-UCL
- NFAT protein binding Source: Ensembl
- protein kinase binding Source: Ensembl
- RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108896, 29 interactors |
CORUMi | P43694 |
IntActi | P43694, 38 interactors |
MINTi | P43694 |
STRINGi | 9606.ENSP00000334458 |
Miscellaneous databases
RNActi | P43694, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | P43694 |
SMRi | P43694 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 60 – 107 | DisorderedSequence analysisAdd BLAST | 48 | |
Regioni | 314 – 378 | DisorderedSequence analysisAdd BLAST | 65 | |
Regioni | 409 – 428 | DisorderedSequence analysisAdd BLAST | 20 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 64 – 90 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 328 – 362 | Polar residuesSequence analysisAdd BLAST | 35 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 217 – 241 | GATA-type 1PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 271 – 295 | GATA-type 2PROSITE-ProRule annotationAdd BLAST | 25 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1601, Eukaryota |
GeneTreei | ENSGT00940000158349 |
HOGENOMi | CLU_027524_0_0_1 |
InParanoidi | P43694 |
OMAi | GIMTSNH |
OrthoDBi | 807790at2759 |
PhylomeDBi | P43694 |
TreeFami | TF315391 |
Family and domain databases
CDDi | cd00202, ZnF_GATA, 2 hits |
Gene3Di | 3.30.50.10, 2 hits |
InterProi | View protein in InterPro IPR008013, GATA_N IPR016375, TF_GATA_4/5/6 IPR039355, Transcription_factor_GATA IPR000679, Znf_GATA IPR013088, Znf_NHR/GATA |
PANTHERi | PTHR10071, PTHR10071, 1 hit |
Pfami | View protein in Pfam PF00320, GATA, 2 hits PF05349, GATA-N, 1 hit |
PIRSFi | PIRSF003028, TF_GATA_4/5/6, 1 hit |
PRINTSi | PR00619, GATAZNFINGER |
SMARTi | View protein in SMART SM00401, ZnF_GATA, 2 hits |
PROSITEi | View protein in PROSITE PS00344, GATA_ZN_FINGER_1, 2 hits PS50114, GATA_ZN_FINGER_2, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WZ09 | A0A087WZ09_HUMAN | Transcription factor GATA-4 | GATA4 | 441 | Annotation score: | ||
B3KUF4 | B3KUF4_HUMAN | Transcription factor GATA-4 | GATA4 | 236 | Annotation score: | ||
E9PKS4 | E9PKS4_HUMAN | Transcription factor GATA-4 | GATA4 | 175 | Annotation score: | ||
R4GND5 | R4GND5_HUMAN | Transcription factor GATA-4 | GATA4 | 23 | Annotation score: | ||
B6DU75 | B6DU75_HUMAN | GATA binding protein 4 | GATA4 | 16 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 19 | E → Q in AAA58496 (PubMed:7721094).Curated | 1 | |
Sequence conflicti | 25 | A → P in AAA58496 (PubMed:7721094).Curated | 1 | |
Sequence conflicti | 66 | A → P in AAA58496 (PubMed:7721094).Curated | 1 | |
Sequence conflicti | 71 | S → P in AAA58496 (PubMed:7721094).Curated | 1 | |
Sequence conflicti | 95 | D → T in AAA58496 (PubMed:7721094).Curated | 1 | |
Sequence conflicti | 280 | T → A in AAW51922 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067605 | 6 | A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs199922907Ensembl. | 1 | |
Natural variantiVAR_071514 | 9 | A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 PublicationCorresponds to variant dbSNP:rs864321699Ensembl. | 1 | |
Natural variantiVAR_072111 | 39 | V → L Probable disease-associated variant found in patients with dilated cardiomyopathy; results in significantly reduced transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1139241Ensembl. | 1 | |
Natural variantiVAR_067606 | 43 | R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906770EnsemblClinVar. | 1 | |
Natural variantiVAR_067607 | 46 | Missing in VSD1. 1 Publication | 1 | |
Natural variantiVAR_071515 | 51 | L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication | 1 | |
Natural variantiVAR_038195 | 52 | S → F in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894074EnsemblClinVar. | 1 | |
Natural variantiVAR_067608 | 93 | G → A in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56191129EnsemblClinVar. | 1 | |
Natural variantiVAR_067609 | 118 | A → AA in TOF. 1 Publication | 1 | |
Natural variantiVAR_067610 | 163 | P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant dbSNP:rs387906769EnsemblClinVar. | 1 | |
Natural variantiVAR_070670 | 221 | G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene; abolishes interaction with ZFPM2. 1 PublicationCorresponds to variant dbSNP:rs398122402Ensembl. | 1 | |
Natural variantiVAR_072112 | 226 | P → Q Probable disease-associated variant found in patients with dilated cardiomyopathy; results in significantly reduced transactivation activity. 1 Publication | 1 | |
Natural variantiVAR_072113 | 271 | C → S Probable disease-associated variant found in patients with dilated cardiomyopathy; results in significantly reduced transactivation activity. 1 Publication | 1 | |
Natural variantiVAR_072114 | 279 | T → S Probable disease-associated variant found in patients with dilated cardiomyopathy; results in significantly reduced transactivation activity. 1 Publication | 1 | |
Natural variantiVAR_067611 | 280 | T → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906771Ensembl. | 1 | |
Natural variantiVAR_071516 | 285 | N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication | 1 | |
Natural variantiVAR_067612 | 296 | G → C in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894073Ensembl. | 1 | |
Natural variantiVAR_067613 | 296 | G → R in VSD1. 1 PublicationCorresponds to variant dbSNP:rs104894073Ensembl. | 1 | |
Natural variantiVAR_016204 | 296 | G → S in ASD2; decreased function resulting in reduced myocardial genes expression; fails to down-regulate endothelial and endocardial genes. 3 PublicationsCorresponds to variant dbSNP:rs104894073Ensembl. | 1 | |
Natural variantiVAR_067614 | 310 | M → V in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906772Ensembl. | 1 | |
Natural variantiVAR_067615 | 316 | Q → E in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56298569Ensembl. | 1 | |
Natural variantiVAR_067616 | 346 | A → V in AVSD4. 1 PublicationCorresponds to variant dbSNP:rs115372595Ensembl. | 1 | |
Natural variantiVAR_067617 | 359 | E → K in VSD1. 1 PublicationCorresponds to variant dbSNP:rs368489876Ensembl. | 1 | |
Natural variantiVAR_038196 | 377 | S → G. Corresponds to variant dbSNP:rs3729856Ensembl. | 1 | |
Natural variantiVAR_067618 | 403 | L → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs777778466Ensembl. | 1 | |
Natural variantiVAR_067619 | 407 | P → Q in VSD1 and TOF; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs115099192Ensembl. | 1 | |
Natural variantiVAR_067620 | 411 | A → V1 PublicationCorresponds to variant dbSNP:rs55633527Ensembl. | 1 | |
Natural variantiVAR_067621 | 425 | D → N2 PublicationsCorresponds to variant dbSNP:rs56208331Ensembl. | 1 | |
Natural variantiVAR_067622 | 429 | S → T in VSD1. 1 Publication | 1 | |
Natural variantiVAR_067623 | 442 | A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs146017816Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055082 | 205 | L → LV in isoform 2. 1 Publication | 1 |
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 |
CCDSi | CCDS5983.1 [P43694-1] CCDS78303.1 [P43694-2] |
RefSeqi | NP_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 XP_006716311.1, XM_006716248.1 XP_011542119.1, XM_011543817.2 [P43694-2] XP_011542120.1, XM_011543818.2 [P43694-2] XP_016868801.1, XM_017013312.1 |
Genome annotation databases
Ensembli | ENST00000335135.8; ENSP00000334458.4; ENSG00000136574.19 ENST00000532059.6; ENSP00000435712.1; ENSG00000136574.19 [P43694-2] ENST00000622443.3; ENSP00000482268.2; ENSG00000136574.19 ENST00000643249.3; ENSP00000493647.1; ENSG00000285109.3 [P43694-2] ENST00000647274.1; ENSP00000495511.1; ENSG00000285109.3 |
GeneIDi | 2626 |
KEGGi | hsa:2626 |
MANE-Selecti | ENST00000532059.6; ENSP00000435712.1; NM_001308093.3; NP_001295022.1 [P43694-2] |
UCSCi | uc003wuc.3, human [P43694-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS5983.1 [P43694-1] CCDS78303.1 [P43694-2] |
RefSeqi | NP_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 XP_006716311.1, XM_006716248.1 XP_011542119.1, XM_011543817.2 [P43694-2] XP_011542120.1, XM_011543818.2 [P43694-2] XP_016868801.1, XM_017013312.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2M9W | NMR | - | A | 262-321 | [»] | |
AlphaFoldDBi | P43694 | |||||
SMRi | P43694 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108896, 29 interactors |
CORUMi | P43694 |
IntActi | P43694, 38 interactors |
MINTi | P43694 |
STRINGi | 9606.ENSP00000334458 |
Chemistry databases
ChEMBLi | CHEMBL1687679 |
PTM databases
iPTMneti | P43694 |
PhosphoSitePlusi | P43694 |
Genetic variation databases
BioMutai | GATA4 |
DMDMi | 215274105 |
Proteomic databases
jPOSTi | P43694 |
MassIVEi | P43694 |
MaxQBi | P43694 |
PaxDbi | P43694 |
PeptideAtlasi | P43694 |
PRIDEi | P43694 |
ProteomicsDBi | 55652 [P43694-1] 7203 |
Protocols and materials databases
Antibodypediai | 3405, 758 antibodies from 45 providers |
DNASUi | 2626 |
Genome annotation databases
Ensembli | ENST00000335135.8; ENSP00000334458.4; ENSG00000136574.19 ENST00000532059.6; ENSP00000435712.1; ENSG00000136574.19 [P43694-2] ENST00000622443.3; ENSP00000482268.2; ENSG00000136574.19 ENST00000643249.3; ENSP00000493647.1; ENSG00000285109.3 [P43694-2] ENST00000647274.1; ENSP00000495511.1; ENSG00000285109.3 |
GeneIDi | 2626 |
KEGGi | hsa:2626 |
MANE-Selecti | ENST00000532059.6; ENSP00000435712.1; NM_001308093.3; NP_001295022.1 [P43694-2] |
UCSCi | uc003wuc.3, human [P43694-1] |
Organism-specific databases
CTDi | 2626 |
DisGeNETi | 2626 |
GeneCardsi | GATA4 |
HGNCi | HGNC:4173, GATA4 |
HPAi | ENSG00000136574, Tissue enhanced (heart muscle, ovary, pancreas) |
MalaCardsi | GATA4 |
MIMi | 187500, phenotype 600576, gene 607941, phenotype 614429, phenotype 614430, phenotype 615542, phenotype |
neXtProti | NX_P43694 |
OpenTargetsi | ENSG00000136574 |
Orphaneti | 251510, 46,XY partial gonadal dysgenesis 251071, 8p23.1 microdeletion syndrome 99103, Atrial septal defect, ostium secundum type 99067, Complete atrioventricular septal defect with ventricular hypoplasia 99068, Complete atrioventricular septal defect-tetralogy of Fallot 334, Familial atrial fibrillation 1480, NON RARE IN EUROPE: Ventricular septal defect 576232, Partial atrioventricular septal defect with ventricular hypoplasia 3303, Tetralogy of Fallot |
PharmGKBi | PA28587 |
VEuPathDBi | HostDB:ENSG00000136574 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1601, Eukaryota |
GeneTreei | ENSGT00940000158349 |
HOGENOMi | CLU_027524_0_0_1 |
InParanoidi | P43694 |
OMAi | GIMTSNH |
OrthoDBi | 807790at2759 |
PhylomeDBi | P43694 |
TreeFami | TF315391 |
Enzyme and pathway databases
PathwayCommonsi | P43694 |
Reactomei | R-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-9690406, Transcriptional regulation of testis differentiation R-HSA-983231, Factors involved in megakaryocyte development and platelet production |
SignaLinki | P43694 |
SIGNORi | P43694 |
Miscellaneous databases
BioGRID-ORCSi | 2626, 15 hits in 1099 CRISPR screens |
ChiTaRSi | GATA4, human |
GeneWikii | GATA4 |
GenomeRNAii | 2626 |
Pharosi | P43694, Tbio |
PROi | PR:P43694 |
RNActi | P43694, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136574, Expressed in female gonad and 101 other tissues |
ExpressionAtlasi | P43694, baseline and differential |
Genevisiblei | P43694, HS |
Family and domain databases
CDDi | cd00202, ZnF_GATA, 2 hits |
Gene3Di | 3.30.50.10, 2 hits |
InterProi | View protein in InterPro IPR008013, GATA_N IPR016375, TF_GATA_4/5/6 IPR039355, Transcription_factor_GATA IPR000679, Znf_GATA IPR013088, Znf_NHR/GATA |
PANTHERi | PTHR10071, PTHR10071, 1 hit |
Pfami | View protein in Pfam PF00320, GATA, 2 hits PF05349, GATA-N, 1 hit |
PIRSFi | PIRSF003028, TF_GATA_4/5/6, 1 hit |
PRINTSi | PR00619, GATAZNFINGER |
SMARTi | View protein in SMART SM00401, ZnF_GATA, 2 hits |
PROSITEi | View protein in PROSITE PS00344, GATA_ZN_FINGER_1, 2 hits PS50114, GATA_ZN_FINGER_2, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | GATA4_HUMAN | |
Accessioni | P43694Primary (citable) accession number: P43694 Secondary accession number(s): B7ZKX0 Q5IFM8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1995 |
Last sequence update: | November 25, 2008 | |
Last modified: | May 25, 2022 | |
This is version 205 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, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - 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