Entity Details

Primary name GATA6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92908
EntryNameGATA6_HUMAN
FullNameTranscription factor GATA-6
TaxID9606
Evidenceevidence at protein level
Length595
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesGATA6

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001701 in utero embryonic development
GO:0001889 liver development
GO:0001949 sebaceous gland cell differentiation
GO:0002759 regulation of antimicrobial humoral response
GO:0003148 outflow tract septum morphogenesis
GO:0003162 atrioventricular node development
GO:0003309 type B pancreatic cell differentiation
GO:0003310 pancreatic A cell differentiation
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription regulator complex
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006644 phospholipid metabolic process
GO:0007493 endodermal cell fate determination
GO:0007596 blood coagulation
GO:0008134 transcription factor binding
GO:0008270 zinc ion binding
GO:0008584 male gonad development
GO:0014898 cardiac muscle hypertrophy in response to stress
GO:0019901 protein kinase binding
GO:0030855 epithelial cell differentiation
GO:0031965 nuclear membrane
GO:0032526 response to retinoic acid
GO:0032911 negative regulation of transforming growth factor beta1 production
GO:0032912 negative regulation of transforming growth factor beta2 production
GO:0035239 tube morphogenesis
GO:0036302 atrioventricular canal development
GO:0042493 response to drug
GO:0043066 negative regulation of apoptotic process
GO:0043627 response to estrogen
GO:0044267 cellular protein metabolic process
GO:0045165 cell fate commitment
GO:0045766 positive regulation of angiogenesis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048645 animal organ formation
GO:0051145 smooth muscle cell differentiation
GO:0051891 positive regulation of cardioblast differentiation
GO:0055007 cardiac muscle cell differentiation
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060430 lung saccule development
GO:0060486 club cell differentiation
GO:0060510 type II pneumocyte differentiation
GO:0060575 intestinal epithelial cell differentiation
GO:0060947 cardiac vascular smooth muscle cell differentiation
GO:0070848 response to growth factor
GO:0071371 cellular response to gonadotropin stimulus
GO:0071456 cellular response to hypoxia
GO:0071773 cellular response to BMP stimulus
GO:0098773 skin epidermis development
GO:0110024 positive regulation of cardiac muscle myoblast proliferation
GO:1901390 positive regulation of transforming growth factor beta activation
GO:1904003 negative regulation of sebum secreting cell proliferation
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000679 Zinc finger, GATA-typeDomainDomain
IPR008013 GATA-type transcription activator, N-terminalDomainDomain
IPR013088 Zinc finger, NHR/GATA-typeFamilyHomologous superfamily
IPR028437 Transcription factor GATA-6FamilyFamily
IPR039355 Transcription factor GATAFamilyFamily

Diseases

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Disease IDSourceNameDescription
217095 OMIMConotruncal heart malformations (CTHM)A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. The disease is caused by variants affecting the gene represented in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus (PubMed:19666519).
187500 OMIMTetralogy of Fallot (TOF)A 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. The disease is caused by variants affecting the gene represented in this entry.
600001 OMIMPancreatic agenesis and congenital heart defects (PACHD)An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot. The disease is caused by variants affecting the gene represented in this entry.
614474 OMIMAtrioventricular septal defect 5 (AVSD5)A 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. The disease is caused by variants affecting the gene represented in this entry.
614475 OMIMAtrial septal defect 9 (ASD9)A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. The disease is caused by variants affecting the gene represented in this entry.