Gene table of GATA2 : GATA binding protein 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GATA2	OMIM link	Number of associated genes	genes
601626	LEUKEMIA, ACUTE MYELOID	OMIM	link to OMIM	23	FLT3, RUNX1, WHSC1L1, KIT, MLF1, CHIC2, CEBPA, LPP, SH3GL1, PICALM, NPM1, CBFB, ETV6, SETBP1, MLLT10, TERT, NUP214, JAK2, GATA2, TGM6, DDX41, NSD1, KRAS
614172	IMMUNODEFICIENCY 21	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GATA2
614038	LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GATA2
614286	MYELODYSPLASTIC SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	SETBP1, GATA2, TET2, ASXL1, SF3B1

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Annotation of the gene GATA2

Associated genes in ENSEMBL

ENSG00000179348

Associated proteins - SwissProt Accession ID

P23769

Associated PDB IDs

Cytogenetic Band

3q21.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

NANOG

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Factors involved in megakaryocyte development and platelet production	R-HSA-983231	5.88
Hemostasis	R-HSA-109582	3.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
enhancer sequence-specific DNA binding	GO:0001158	5.36
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
enhancer binding	GO:0035326	5.21
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
zinc ion binding	GO:0008270	2.66
ion binding	GO:0043167	1.36
C2H2 zinc finger domain binding	GO:0070742	7.1
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	5.58
cation binding	GO:0043169	1.4
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
protein domain specific binding	GO:0019904	3.32
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
RNA polymerase II transcription factor binding	GO:0001085	5.08
transcription regulatory region DNA binding	GO:0044212	3.03
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65