Gene Detail

Gene Symbol GATA2
Synonyms DCML | IMD21 | MONOMAC | NFE1B
Gene Description GATA2, GATA binding protein 2, is a zinc-finger transcription factor that plays a central role in regulating the proliferation and survival of hematopoietic stem cells (PMID: 22192845). Mutations in GATA2 are associated with myelodysplastic syndrome and leukemia (PMID: 22192845) and decreased expression has been associated with melanoma progression (PMID: 29156497).
Entrez Id 2624
Chromosome 3
Map Location 3q21.3
Canonical Transcript NM_032638

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
G272K missense unknown GATA2 G272K does not lie within any known functional domains of the Gata2 protein (UniProt.org). G272K has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
L321P missense loss of function GATA2 L321P lies within the DNA-binding domain of the Gata2 protein (PMID: 27389056). L321P confers a loss of function to the Gata2 protein as demonstrated by decreased Gata2 transcriptional activity and increased erythroid lineage differentiation in cell culture (PMID: 27389056).
P247A missense unknown GATA2 P247A does not lie within any known functional domains of the Gata2 protein (UniPort.org). P247A has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
P267H missense unknown GATA2 P267H does not lie within any known functional domains of the Gata2 protein (UniPort.org). P267H has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A430E missense unknown GATA2 A430E does not lie within any known functional domains of the Gata2 protein (UniPort.org). A430E has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
mutant unknown unknown GATA2 mutant indicates an unspecified mutation in the GATA2 gene.
S251F missense unknown GATA2 S251F does not lie within any known functional domains of the Gata2 protein (UniProt.org). S251F has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
R330* nonsense loss of function GATA2 R330* results in a premature truncation of the Gata2 protein at amino acid 330 of 480 (UniProt.org). R330* confers a loss of function to the Gata2 protein as demonstrated by decreased Gata2 transcriptional activity and increased erythroid lineage differentiation in cell culture (PMID: 27389056).
A109V missense unknown GATA2 A109V does not lie within any known functional domains of the Gata2 protein (UniPort.org). A109V has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A198T missense unknown GATA2 A198T does not lie within any known functional domains of the Gata2 protein (UniPort.org). A198T has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G366R missense unknown GATA2 G366R lies within the GATA-type 2 zinc finger domain of the Gata2 protein (UniProt.org). G366R has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
T354M missense loss of function GATA2 T354M lies within the GATA-type 2 zinc finger domain of the Gata2 protein (UniProt.org). T354M results in reduced binding of Gata2 to DNA, decreased transcriptional activation, inhibition of cell differentiation and apoptosis in culture (PMID: 21892162).
G263R missense unknown GATA2 G263R does not lie within any known functional domains of the Gata2 protein (UniPort.org). G263R has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
wild-type none no effect Wild-type GATA2 indicates that no mutation has been detected within the GATA2 gene.
G167D missense unknown GATA2 G167D does not lie within any known functional domains of the Gata2 protein (UniPort.org). G167D has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
S466F missense unknown GATA2 S466F does not lie within any known functional domains of the Gata2 protein (UniPort.org). S466F has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
F428Sfs*49 frameshift unknown GATA2 F428Sfs*49 indicates a shift in the reading frame starting at amino acid 428 and terminating 49 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). F428Sfs*49 has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G273R missense unknown GATA2 G273R does not lie within any known functional domains of the Gata2 protein (UniPort.org). G273R has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
H471Tfs*6 frameshift unknown GATA2 H471Tfs*6 indicates a shift in the reading frame starting at amino acid 471 and terminating 6 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). H471Tfs*6 has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
Q328K missense unknown GATA2 Q328K does not lie within any known functional domains of the Gata2 protein (UniPort.org). Q328K has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
S277G missense unknown GATA2 S277G does not lie within any known functional domains of the Gata2 protein (UniPort.org). S277G has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
N371K missense unknown GATA2 N371K lies within the GATA-type 2 zinc finger domain of the Gata2 protein (UniProt.org). N371K has not been characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
S92R missense unknown GATA2 S92R does not lie within any known functional domains of the Gata2 protein (UniPort.org). S92R has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
P87R missense unknown GATA2 P87R does not lie within any known functional domains of the Gata2 protein (UniPort.org). P87R has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A37V missense unknown GATA2 A37V does not lie within any known functional domains of the Gata2 protein (UniPort.org). A37V has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A163T missense unknown GATA2 A163T does not lie within any known functional domains of the Gata2 protein (UniPort.org). A163T has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
L229R missense unknown GATA2 L229R does not lie within any known functional domains of the Gata2 protein (UniPort.org). L229R has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G468S missense unknown GATA2 G468S does not lie within any known functional domains of the Gata2 protein (UniPort.org). G468S has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
H25Pfs*159 frameshift loss of function - predicted GATA2 H25Pfs*159 indicates a shift in the reading frame starting at amino acid 25 and terminating 159 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), H25Pfs*159 is predicted to lead to a loss of Gata2 protein function.
P228L missense unknown GATA2 P228L does not lie within any known functional domains of the Gata2 protein (UniPort.org). P228L has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A478S missense unknown GATA2 A478S does not lie within any known functional domains of the Gata2 protein (UniPort.org). A478S has not been characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
P161A missense unknown GATA2 P161A does not lie within any known functional domains of the Gata2 protein (UniProt.org). P161A has been identified in the scientific literature (PMID: 22996659), but has not been biochemically characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
S139Cfs*45 frameshift loss of function - predicted GATA2 S139Cfs*45 indicates a shift in the reading frame starting at amino acid 139 and terminating 45 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S139Cfs*45 is predicted to lead to a loss of Gata2 protein function.
H471fs frameshift unknown GATA2 H471fs results in a change in the amino acid sequence of the Gata1 protein beginning at aa 471 of 480, likely resulting in premature truncation of the functional protein (UniProt.org). H471fs has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
M388T missense unknown GATA2 M388T does not lie within any known functional domains of the Gata2 protein (UniPort.org). M388T has not been characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
P175L missense unknown GATA2 P175L lies within the negative regulatory domain of the Gata2 protein (PMID: 22786876). P175L has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
S464R missense unknown GATA2 S464R does not lie within any known functional domains of the Gata2 protein (UniPort.org). S464R has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A478T missense unknown GATA2 A478T does not lie within any known functional domains of the Gata2 protein (UniPort.org). A478T has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
Q328* nonsense unknown GATA2 Q328* results in a premature truncation of the Gata2 protein at amino acid 328 of 480 (UniProt.org). Q328* has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
P461L missense unknown GATA2 P461L does not lie within any known functional domains of the Gata2 protein (UniPort.org). P461L has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A302S missense unknown GATA2 A302S lies within the GATA-type 1 Zinc finger region of the Gata2 protein (UniProt.org). A302S has not been characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
H51Y missense unknown GATA2 H51Y does not lie within any known functional domains of the Gata2 protein (UniPort.org). H51Y has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
P304H missense loss of function GATA2 L304H lies within the DNA-binding domain of the Gata2 protein (PMID: 27389056). L304H confers a loss of function to the Gata2 protein as demonstrated by decreased Gata2 transcriptional activity and increased erythroid lineage differentiation in cell culture (PMID: 27389056).
A341V missense unknown GATA2 A341V does not lie within any known functional domains of the Gata2 protein (UniPort.org). A341V has not been characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A372T missense unknown GATA2 A372T lies within the GATA-type 2 zinc finger domain of the Gata2 protein (UniProt.org). A372T has been identified in sequencing studies (PMID: 23223431) but has not been biochemically characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
T477I missense unknown GATA2 T477I does not lie within any known functional domains of the Gata2 protein (UniProt.org). T477I has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A198V missense unknown GATA2 A198V lies within the negative regulatory domain of the Gata2 protein (PMID: 22786876). A198V has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A411V missense unknown GATA2 A411V does not lie within any known functional domains of the Gata2 protein (UniPort.org). A411V has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G200fs frameshift loss of function - predicted GATA2 G200fs results in a change in the amino acid sequence of the Gata2 protein beginning at aa 200 of 480, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G200fs is predicted to lead to a loss of Gata2 protein function.
P267L missense unknown GATA2 P267L does not lie within any known functional domains of the Gata2 protein (UniPort.org). P267L has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
M221L missense unknown GATA2 M221L does not lie within any known functional domains of the Gata2 protein (UniPort.org). M221L has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
N50S missense unknown GATA2 N50S does not lie within any known functional domains of the Gata2 protein (UniPort.org). N50S has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
R230C missense unknown GATA2 R230C lies within the negative regulatory domain of the Gata2 protein (PMID: 22786876). R230C has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
N351Kfs*33 frameshift unknown GATA2 N351Kfs*33 indicates a shift in the reading frame starting at amino acid 351 and terminating 33 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). N351Kfs*33 has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A364T missense unknown GATA2 A364T lies within the GATA-type 2 zinc finger domain of the Gata2 protein (UniProt.org). A364T has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G272E missense unknown GATA2 G272E does not lie within any known functional domains of the Gata2 protein (UniProt.org). G272E has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
R283C missense unknown GATA2 R283C does not lie within any known functional domains of the Gata2 protein (UniProt.org). R283C has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
T356N missense unknown GATA2 T356N lies within the GATA-type 2 Zinc finger region of the Gata2 protein (UniProt.org). T356N has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A164T missense loss of function GATA2 A164T does not lie within any known functional domains of the Gata2 protein (UniProt.org). A164T results in decreased Gata2 protein expression and reduced transactivation activity in culture (PMID: 26287967).
R86Afs*33 frameshift loss of function - predicted GATA2 R86Afs*33 indicates a shift in the reading frame starting at amino acid 86 and terminating 33 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R86Afs*33 is predicted to lead to a loss of Gata2 protein function.
G263E missense unknown GATA2 G263E does not lie within any known functional domains of the Gata2 protein (UniPort.org). G263E has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G200Vfs*18 frameshift loss of function - predicted GATA2 G200Vfs*18 indicates a shift in the reading frame starting at amino acid 200 and terminating 18 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G200Vfs*18 is predicted to lead to a loss of Gata2 protein function.
M400L missense unknown GATA2 M400L does not lie within any known functional domains of the Gata2 protein (UniPort.org). M400L has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
S261N missense unknown GATA2 S261N does not lie within any known functional domains of the Gata2 protein (UniPort.org). S261N has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
T238I missense unknown GATA2 T238I does not lie within any known functional domains of the Gata2 protein (UniPort.org). T238I has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
H460P missense unknown GATA2 H460P does not lie within any known functional domains of the Gata2 protein (UniPort.org). H460P has not been characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
S462F missense unknown GATA2 S462F does not lie within any known functional domains of the Gata2 protein (UniPort.org). S462F has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G167S missense unknown GATA2 G167S does not lie within any known functional domains of the Gata2 protein (UniPort.org). G167S has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
P385L missense unknown GATA2 P385L does not lie within any known functional domains of the Gata2 protein (UniProt.org). P385L has not been characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
W10C missense unknown GATA2 W10C lies within the transactivation domain of the Gata2 protein (PMID: 22786876). W10C has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G150Efs*68 frameshift loss of function - predicted GATA2 G150Efs*68 indicates a shift in the reading frame starting at amino acid 150 and terminating 68 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G150Efs*68 is predicted to lead to a loss of Gata2 protein function.
G450R missense unknown GATA2 G450R does not lie within any known functional domains of the Gata2 protein (UniPort.org). G450R has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
A203T missense unknown GATA2 A203T does not lie within any known functional domains of the Gata2 protein (UniPort.org). A203T has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
E423del deletion unknown GATA2 E423del results in the deletion of one amino acid in the Gata2 protein at amino acid 423 (UniProt.org). E423del has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G237D missense unknown GATA2 G237D does not lie within any known functional domains of the Gata2 protein (UniProt.org). G237D has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
G210S missense unknown GATA2 G210S does not lie within any known functional domains of the Gata2 protein (UniPort.org). G210S has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
R396Q missense unknown GATA2 R396Q does not lie within any known functional domains of the Gata2 protein (UniProt.org). R396Q has been identified in the scientific literature (PMID: 23223431) but has not been biochemically characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
R398Q missense unknown GATA2 R398Q does not lie within any known functional domains of the Gata2 protein (UniProt.org). R398Q has been identified in the scientific literature (PMID: 24345756) but has not been biochemically characterized and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
S54W missense unknown GATA2 S54W does not lie within any known functional domains of the Gata2 protein (UniPort.org). S54W has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
Y213F missense unknown GATA2 Y213F does not lie within any known functional domains of the Gata2 protein (UniPort.org). Y213F has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
P240S missense unknown GATA2 P240S does not lie within any known functional domains of the Gata2 protein (UniPort.org). P240S has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
Molecular Profile Protein Effect Treatment Approaches
GATA2 G272K unknown
GATA2 L321P loss of function
GATA2 P247A unknown
GATA2 P267H unknown
GATA2 A430E unknown
CEBPA mutant GATA2 mutant
GATA2 mutant unknown
GATA2 S251F unknown
GATA2 R330* loss of function
GATA2 A109V unknown
GATA2 A198T unknown
GATA2 G366R unknown
GATA2 T354M loss of function
GATA2 T354M CEBPA mutant
GATA2 G263R unknown
KRAS mut + GATA2 wild-type
GATA2 wild-type no effect
GATA2 G167D unknown
GATA2 S466F unknown
GATA2 F428Sfs*49 unknown
GATA2 G273R unknown
GATA2 H471Tfs*6 unknown
GATA2 Q328K unknown
GATA2 S277G unknown
GATA2 N371K unknown
GATA2 S92R unknown
GATA2 P87R unknown
GATA2 A37V unknown
GATA2 A163T unknown
GATA2 L229R unknown
GATA2 G468S unknown
GATA2 H25Pfs*159 loss of function - predicted
GATA2 P228L unknown
GATA2 A478S unknown
GATA2 P161A unknown
GATA2 S139Cfs*45 loss of function - predicted
GATA2 H471fs unknown
GATA2 M388T unknown
GATA2 P175L unknown
GATA2 S464R unknown
GATA2 A478T unknown
GATA2 Q328* unknown
GATA2 P461L unknown
GATA2 A302S unknown
GATA2 H51Y unknown
GATA2 P304H loss of function
GATA2 A341V unknown
GATA2 A372T unknown
GATA2 T477I unknown
GATA2 A198V unknown
GATA2 A411V unknown
GATA2 G200fs loss of function - predicted
GATA2 P267L unknown
GATA2 M221L unknown
GATA2 N50S unknown
GATA2 R230C unknown
GATA2 N351Kfs*33 unknown
GATA2 A364T unknown
GATA2 G272E unknown
GATA2 R283C unknown
GATA2 T356N unknown
GATA2 A164T loss of function
GATA2 R86Afs*33 loss of function - predicted
GATA2 G263E unknown
GATA2 G200Vfs*18 loss of function - predicted
GATA2 M400L unknown
GATA2 S261N unknown
GATA2 T238I unknown
GATA2 H460P unknown
GATA2 S462F unknown
GATA2 G167S unknown
GATA2 P385L unknown
GATA2 W10C unknown
GATA2 G150Efs*68 loss of function - predicted
GATA2 G450R unknown
GATA2 A203T unknown
GATA2 E423del unknown
GATA2 G237D unknown
GATA2 G210S unknown
GATA2 R396Q unknown
GATA2 R398Q unknown
GATA2 S54W unknown
GATA2 Y213F unknown
GATA2 P240S unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CEBPA mutant GATA2 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in GATA2 were associated with better overall survival in patients with cytogenetically normal acute myeloid leukemia (CN-AML) harboring biallelic CEBPA gene mutations (PMID: 22814295, PMID: 23521373, PMID: 25241285). 25241285 22814295 23521373
GATA2 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, GATA2 germline mutations were shown to be a risk factor for the development of acute myeloid leukemia following myelodysplastic syndrome (PMID: 21892162, PMID: 22271902, PMID: 22147895, PMID: 22533337). 22533337 22271902 22147895 21892162
KRAS mut + GATA2 wild-type non-small cell lung carcinoma sensitive bortezomib + fasudil Preclinical Actionable In a preclinical study, the combination of bortezomib and fasudil blocked GATA2 downstream signals in KRAS activated NSCLC cells, resulting in reduced tumor burden, size and number in treated mice (PMID: 22541434). 22541434