GATA4 - GATA binding protein 4 Gene
Also Known as TOF; ASD2; VSD1; TACHD
Species: Homo sapiens
About GATA4
This gene has 8 transcripts (splice variants), 1 gene allele, 206 orthologues, 7 paralogues and is associated with 15 phenotypes. Biased expression in ovary (RPKM 23.7), duodenum (RPKM 16.4) and 8 other tissues.
Summary
This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several Cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
GATA4 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001308093.3 | NP_001295022.1 | transcription factor GATA-4 isoform 1 |
| NM_001308094.2 | NP_001295023.1 | transcription factor GATA-4 isoform 3 |
| NM_001374273.1 | NP_001361202.1 | transcription factor GATA-4 isoform 3 |
| NM_001374274.1 | NP_001361203.1 | transcription factor GATA-4 isoform 4 |
| NM_002052.5 | NP_002043.2 | transcription factor GATA-4 isoform 2 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of RNA polymerase II transcription regulator complex |
IDA
IDA: Inferred from direct assay
|
9312027 | GOA |
| is active in nucleus |
IDA
IDA: Inferred from direct assay
|
21220346 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
9566909 | GOA |
GATA4 Protein Structure
GATA-N: GATA-type transcription activator, N-terminal (1 - 208)
GATA: GATA zinc finger (217 - 249)
GATA: GATA zinc finger (271 - 304)
- 0
- 100
- 200
- 300
- 400
- 442 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transcription factor GATA-4 |
|
GATA4 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GATA4 | P43694 | KLF13 | Homo sapiens | Q9Y2Y9 | 17053787 | |
|
Intra
|
GATA4 | P43694 | KLF13 | Homo sapiens | Q9Y2Y9 | 17053787 | |
|
Intra
|
GATA4 | P43694 | NKX2-5 | Homo sapiens | P52952 | 10075728 |
GATA4 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81823 | GATA4 Antibody (YA1568) | WB, ICC/IF, FC | Human, Mouse, Rat |
| HY-P84333 | GATA4 Antibody (YA4030) | WB, ELISA | Human, Rat |
| HY-P84333A | GATA4 Antibody (YA4030)(PBS only) | WB, ELISA | Human, Rat |
| HY-P85181 | GATA4 Antibody (YA4873) | WB, ELISA | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
|
| Atrial Septal Defect 2 |
|
|
| Atrioventricular Septal Defect 4 |
|
|
| Ventricular Septal Defect 1 |
|
|
| Tetralogy Of Fallot |
|
|
| Partial Atrioventricular Septal Defect With Ventricular Hypoplasia |
|
|
| Transposition Of The Great Arteries, Dextro-Looped |
|
|
| 46,Xy Sex Reversal 3 |
|
|
| Heart Disease |
|
|
| Congenital Heart Defects, Multiple Types, 4 |
|
|
| 46,Xy Partial Gonadal Dysgenesis |
|
|
| Patent Foramen Ovale |
|
|
| Familial Atrial Fibrillation |
|
|
| Chromosome 8p23.1 Deletion |
|
|
| Ventricular Septal Defect |
|
|
| Heart Septal Defect |
|
|
| Pulmonary Valve Stenosis |
|
|
| Atrioventricular Septal Defect |
|
|
| Hypospadias |
|
|
| Ebstein Anomaly |
|
|
| Double Outlet Right Ventricle |
|
|
| Embryonal Carcinoma |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Alcohol Dependence |
|
|
| Atrioventricular Block |
|
|
| Atrial Heart Septal Defect |
|
|
| Malignant Childhood Germ Cell Neoplasm |
|
|
| Inguinal Hernia |
|
|
| Disorder Of Sexual Development |
|
|
| Diaphragm Disease |
|
|
| Endodermal Sinus Tumor |
|
|
| Pancreatic Agenesis |
|
|
| Dilated Cardiomyopathy |
|
|
| 46,Xy Sex Reversal 9 |
|
|
| Ciliary Dyskinesia, Primary, 40 |
|
|
| Mixed Germ Cell-Sex Cord Neoplasm |
|
|
| Myocardial Infarction |
|
|
| Holt-Oram Syndrome |
|
|
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
|
| Thyroid Gland Mucoepidermoid Carcinoma |
|
|
| Congestive Heart Failure |
|
|
| Brugada Syndrome |
|
|
| Pulmonary Valve Disease |
|
|
| Tricuspid Atresia |
|
|
| Aortic Valve Disease 1 |
|
|
| Teratoma |
|
|
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
|
| Pulmonary Hypertension |
|
|
| Total Anomalous Pulmonary Venous Return 1 |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Testicular Thecoma |
|
|
| Physical Disorder |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Diaphragmatic Eventration |
|
|
| Germ Cell And Embryonal Cancer |
|
|
| Diaphragmatic Hernia, Congenital |
|
|
| Hypoplastic Left Heart Syndrome |
|
|
| Germ Cell Cancer |
|
|
| Tricuspid Valve Disease |
|
|
| Persistent Mullerian Duct Syndrome |
|
|
| Orofaciodigital Syndrome Viii |
|
|
| Colorectal Cancer |
|
|
| Permanent Neonatal Diabetes Mellitus |
|
|
| Patau Syndrome |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| 46,Xy Sex Reversal |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Campomelic Dysplasia |
|
|
| Aortic Valve Disease 2 |
|
|
| Jacobsen Syndrome |
|
|
| Left Ventricular Noncompaction |
|
|
| Gastric Cancer |
|
|
| Noonan Syndrome With Multiple Lentigines |
|
|
| Rasopathy |
|
|
| Ovarian Cancer |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Velocardiofacial Syndrome |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Wolf-Hirschhorn Syndrome |
|
|
| Chromosome 1p36 Deletion Syndrome |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Hypertension, Essential |
|
|
| Wilms Tumor 1 |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Williams-Beuren Syndrome |
|
|
| Noonan Syndrome 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | GATA4 | VGNC | VGNC:78503 |
| Bos taurus | GATA4 | VGNC | VGNC:29268 |
| Canis familiaris | GATA4 | VGNC | VGNC:54949 |
| Rattus norvegicus | GATA4 | RGD | RGD:2665 |
| Macaca mulatta | GATA4 | VGNC | VGNC:72890 |
| Mus musculus | GATA4 | MGD | MGI:95664 |
| Others | GATA4 | NCBI |