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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 (GATA Binding Protein 6) is a Protein Coding gene. Diseases associated with GATA6 include Heart Defects, Congenital, And Other Congenital Anomalies and Atrioventricular Septal Defect 5. Among its related pathways are Heart Development and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is GATA4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 9566909 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IMP,ISM | 19274049 |
GO:0001103 | RNA polymerase II repressing transcription factor binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 9566909 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA | -- |
GO:0031965 | nuclear membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mesodermal Commitment Pathway | ||
2 | NF-kappaB Signaling | ||
3 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
|
|
4 | G-AlphaQ Signaling |
Thrombin Signaling
.40
|
|
5 | Transcriptional Regulatory Network in Embryonic Stem Cell |
Transcriptional Regulatory Network in Embryonic Stem Cell
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 18177748 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001889 | liver development | IEA | -- |
GO:0003148 | outflow tract septum morphogenesis | IMP | 19666519 |
GO:0003309 | type B pancreatic cell differentiation | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GATA6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GATA6 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GATA6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gata6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gata6 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GATA6 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GATA6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GATA6 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GATA6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gata6 30 |
|
||
pnr 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | gata-6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gata6 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | grn 32 |
|
|
|
pnr 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | elt-1 32 |
|
|
|
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GZF3 33 |
|
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
30206 | Pathogenic: Persistent truncus arteriosus | 22,182,782(+) | AAG/A | FRAMESHIFT_VARIANT | |
636827 | Uncertain Significance: not provided | 22,171,568(+) | G/T | NONSENSE | |
641775 | Uncertain Significance: Atrioventricular septal defect 5 | 22,171,966(+) | C/T | SYNONYMOUS_VARIANT | |
646142 | Uncertain Significance: Atrioventricular septal defect 5 | 22,171,701(+) | C/G | MISSENSE_VARIANT | |
646819 | Uncertain Significance: Atrioventricular septal defect 5 | 22,171,299(+) | G/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
heart defects, congenital, and other congenital anomalies |
|
|
atrioventricular septal defect 5 |
|
|
conotruncal heart malformations |
|
|
atrial septal defect 9 |
|
|
diaphragmatic hernia, congenital |
|