GATA6 - GATA binding protein 6 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2627

About GATA6

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:22,169,589-22,202,528 (from NCBI)

This gene has 2 transcripts (splice variants), 191 orthologues, 7 paralogues and is associated with 14 phenotypes. Broad expression in stomach (RPKM 24.9), adrenal (RPKM 23.6) and 17 other tissues.

Summary

This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]

GATA6 Products (1)

mRNA	Protein	Name
NM_005257.6	NP_005248.2	transcription factor GATA-6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	19497978	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	21127043	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	14988427	GOA
enables NFAT protein binding	IPI IPI: Inferred from physical interaction	11889139	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16199874	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	20864106	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	9566909	GOA
enables transcription coactivator binding	IPI IPI: Inferred from physical interaction	19497978	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within negative effect G1 to G0 transition involved in cell differentiation	IDA IDA: Inferred from direct assay	9593712	GOA
involved in cardiac vascular smooth muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	11889139	GOA
involved in cellular response to hypoxia	IDA IDA: Inferred from direct assay	21127043	GOA
acts upstream of or within intestinal epithelial cell differentiation	IDA IDA: Inferred from direct assay	9566909	GOA
involved in male gonad development	IEP IEP: Inferred from expression pattern	17848411	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18177748	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	21127043	GOA
involved in negative regulation of sebum secreting cell proliferation	IDA IDA: Inferred from direct assay	33082341	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	18177748	GOA
involved in negative regulation of transforming growth factor beta1 production	IMP IMP: Inferred from mutant phenotype	21127043	GOA
involved in negative regulation of transforming growth factor beta2 production	IMP IMP: Inferred from mutant phenotype	21127043	GOA
involved in outflow tract septum morphogenesis	IMP IMP: Inferred from mutant phenotype	19666519	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	22750565	GOA
involved in positive regulation of angiogenesis	IDA IDA: Inferred from direct assay	21127043	GOA
involved in positive regulation of cardiac muscle myoblast proliferation	IDA IDA: Inferred from direct assay	25068583	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	19497978	GOA
involved in regulation of antimicrobial humoral response	IDA IDA: Inferred from direct assay	33082341	GOA
involved in response to growth factor	IDA IDA: Inferred from direct assay	21127043	GOA
involved in response to retinoic acid	IDA IDA: Inferred from direct assay	33082341	GOA
involved in response to xenobiotic stimulus	IMP IMP: Inferred from mutant phenotype	18671946	GOA
involved in sebaceous gland cell differentiation	IDA IDA: Inferred from direct assay	33082341	GOA
involved in skin epidermis development	IDA IDA: Inferred from direct assay	33082341	GOA
involved in smooth muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	17626241	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	9566909	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GATA6 Protein Structure

GATA-N

GATA

0
100
200
300
400
500
595 a.a.

Protein Preferred Names	Protein Names
transcription factor GATA-6	GATA-binding factor 6

GATA6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80685	GATA6 Antibody (YA757)	WB	Human
HY-P80685A	GATA6 Antibody (YA757)(PBS only)	WB	Human
HY-P85507	GATA6 Antibody (YA5199)	WB	Human

Related Diseases

Diseases	Alias
Heart Defects, Congenital, And Other Congenital Anomalies	Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome Pancreatic Agenesis And Congenital Heart Defects HDCA PACHD Congenital Pancreatic Hypoplasia With Diabetes Mellitus And Congenital Heart Disease Yorifuji-Okuno Syndrome Yorifuji Okuno Syndrome Pancreatic Hypoplasia, Congenital, With Diabetes Mellitus And Congenital Heart Disease Congenital Heart Defects And Other Congenital Anomalies Hereditary Pancreatic Hypoplasia, Diabetes Mellitus And Congenital Heart Disease Congenital Pancreatic Agenesis With Diabetes Mellitus And Congenital Heart Disease Heart Disease, Congenital, And Other Congenital Anomalies
Atrioventricular Septal Defect 5	AVSD5 Septal Defect, Atrioventricular, Type 5
Atrial Septal Defect 9	ASD9 Atrial Heart Septal Defect 9 Septal Defect, Atrial, Type 9
Conotruncal Heart Malformations	Persistent Truncus Arteriosus Conotruncal Anomaly Face Syndrome Truncus Arteriosus Common Arterial Trunk CTHM Conotruncal Heart Malformations, Variable Tac Truncus Arteriosus Communis Conotruncal Cardiac Defects Common Aorticopulmonary Trunk Cafs Conotruncal Heart Defects Cthd Dorv Double-Outlet Right Ventricle Pta Heart Malformations, Conotruncal Common Truncus Common Truncus Arteriosus Persistent Truncus Arteriosus Or Communis Truncus Communis Common Aortico-Pulmonary Trunk Truncus Arteriosus With Aortic Dominance Truncus Arteriosus With No Aortic Obstruction Truncus Arteriosus With Pulmonary Dominance And Interrupted Aortic Arch Truncus Arteriosus With Interrupted Aortic Arch Common Arterial Trunk With Interrupted Aortic Arch Van Praagh Truncus Arteriosus Type A4
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Congenital Heart Defects, Multiple Types, 4	CHTD4 Complete Atrioventricular Septal Defect-Tetralogy Of Fallot Cavc-Tetralogy Of Fallot Complete Avsd-Tetralogy Of Fallot Complete Atrioventricular Canal Defect-Tetralogy Of Fallot Complete Atrioventricular Septal Defect With Ventricular Hypoplasia Cavc With Ventricular Hypoplasia Complete Avsd With Ventricular Hypoplasia Complete Atrioventricular Canal Defect With Ventricular Hypoplasia Complete Atrioventricular Septal Defect With Ventricular Imbalance Unbalanced Complete Atrioventricular Canal Heart Defects, Congenital, Multiple Types, Type 4
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Atypical Coarctation Of Aorta	Middle Aortic Syndrome Coarctation Of The Abdominal Aorta Mid-Aortic Dysplastic Syndrome Mid-Aortic Syndrome Midaortic Syndrome Takayasu Arteritis
Pancreatic Agenesis	Partial Pancreatic Agenesis Congenital Pancreatic Agenesis Partial Agenesis Of The Pancreas Agenesis, Pancreatic Pancreatic Agenesis, Congenital
Tricuspid Valve Disease	Rheumatic Tricuspid Valve Disease Disease Of Tricuspid Valve Rh. Tricuspid Valve Disease Rheumatic Disease Of Tricuspid Valve Tricuspid Disease Tricuspid Valve Disorder
Pulmonary Valve Disease	Pulmonary Valve Disorder
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Acne	Acne Vulgaris Acne Varioliformis Frontalis Acne
Malignant Childhood Germ Cell Neoplasm	Malignant Pediatric Germ Cell Tumor Malignant Childhood Germ Cell Tumor
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Endodermal Sinus Tumor	Yolk Sac Tumor Endodermal Sinus Tumour Hepatoid Yolk Sac Tumour Infantile Embryonal Carcinoma Yolk Sac Neoplasm Yolk Sac Tumour
Childhood Endodermal Sinus Tumor	Childhood Endodermal Sinus Neoplasm Childhood Endodermal Sinus Tumour Paediatric Yolk Sac Tumour Pediatric Yolk Sac Tumor Childhood Yolk Sac Tumor
Immunodeficiency 49	IMD49 Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Immunodeficiency 49, Severe Combined Scid, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Severe Combined Immunodeficiency, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Diabetes Mellitus	Diabetes
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Tricuspid Atresia	Congenital Agenesis Of The Tricuspid Valve
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Germ Cell Cancer	Malignant Germ Cell Tumor Neoplasms, Germ Cell And Embryonal Germ Cell Neoplasm Germ Cell Tumour Malignant Tumor Of The Germ Cell Neoplasms Germ Cell Malignant Germ Cell Neoplasm
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05294	GATA6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17911	Gata6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24380	Gata6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GATA6	MGD	MGI:107516
Rattus norvegicus	GATA6	RGD	RGD:2666
Macaca mulatta	GATA6	VGNC	VGNC:72891
Felis catus	GATA6	VGNC	VGNC:62475
Bos taurus	GATA6	VGNC	VGNC:56366
Others	GATA6	NCBI