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This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]
GATA3 (GATA Binding Protein 3) is a Protein Coding gene. Diseases associated with GATA3 include Hypoparathyroidism, Sensorineural Deafness, And Renal Disease and Hypoparathyroidism. Among its related pathways are Preimplantation Embryo and C-MYB transcription factor network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is GATA2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 19723756 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 19674970 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IDA | 19232384 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA,ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 19674970 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Th17 cell differentiation | ||
2 | IL27-mediated signaling events | ||
3 | Cytokine Signaling in Immune system | ||
4 | Deubiquitination |
.74
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5 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
GO:0000902 | cell morphogenesis | IEA | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001709 | cell fate determination | ISS | -- |
GO:0001764 | neuron migration | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dexamethasone | Approved, Investigational, Vet_approved | Pharma | Agonist | Anti-inflammatory glucocorticoid | 2886 | |
Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3670 | ||
Cytarabine | Approved, Experimental, Investigational | Pharma | 1335 | |||
Daunorubicin | Approved | Pharma | DNA topoisomerase II inhibitor | 383 | ||
Doxorubicin | Approved, Investigational | Pharma | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2029 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | |||||||||||||||
SP3: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GATA3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GATA3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GATA3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GATA3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gata3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gata3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GATA3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GATA3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GATA3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gata3 30 |
|
||
Str.10665 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.793 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gata3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | pnr 32 |
|
|
|
grn 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | elt-1 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DAL80 31 |
|
ManyToMany | |
GAT1 31 |
|
ManyToMany | |||
GZF3 31 |
|
ManyToMany | |||
GLN3 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
16627 | Pathogenic: Hypoparathyroidism-deafness-renal disease syndrome | 8,058,488(+) | CG/C | FRAMESHIFT_VARIANT | |
16628 | Pathogenic: Hypoparathyroidism-deafness-renal disease syndrome | 8,058,539(+) | AG/A | FRAMESHIFT_VARIANT | |
29692 | Pathogenic: Hypoparathyroidism-deafness-renal disease syndrome | 8,055,762(+) | TGG/T | FRAMESHIFT_VARIANT | |
663254 | Uncertain Significance: not provided | 8,055,744(+) | G/A | MISSENSE_VARIANT | |
681820 | Likely Benign: not provided | 8,058,484(+) | T/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypoparathyroidism, sensorineural deafness, and renal disease |
|
|
hypoparathyroidism |
|
|
renal dysplasia |
|
|
leukemia, acute lymphoblastic 3 |
|
|
allergic asthma |
|