1. Gene
  2. GATA6 - GATA binding protein 6 Gene

GATA6 - GATA binding protein 6 Gene

Homo sapiens
Gene ID: 2627 | Gene type: protein coding

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

GATA6 Protein Structure

GATA-N

GATA-N: GATA-type transcription activator, N-terminal (147 - 381)

GATA

GATA: GATA zinc finger (390 - 423)

GATA

GATA: GATA zinc finger (444 - 477)

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  • 595 a.a.
Protein Preferred Names Protein Names

transcription factor GATA-6

GATA-binding factor 6

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

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