This presentation focuses on the genomic information of GATA2 gene. Also it provides bioinformatic resources related to GATA2 gene in human.

1. GATA 2 gene
B. Renukadevi
MSc. Experimental Biotechnology

2. Outline
• GATA 2 – An introduction
• Objective
• Studies related to GATA 2
• Gene structure & domains
• Transcript variants
• SNPs
• BLAST
• Multiple Sequence Alignment (MSA)
• GATA 2 associated human diseases

3. GATA 2 – An Introduction
• GATA genes encode Guanine-adenine-thymine-adenine
(GATA) family of zinc-finger transcription factors
• Includes three types of genes – GATA 1, GATA 2, GATA 3
• Play essential roles in the development of many cell types,
including hematopoietic, cardiac, and endodermal lineages
• Can occupy GATA DNA motifs in several thousand genes

4. • GATA 2 is expressed in hematopoietic progenitors, including
- Early erythrocytes
- Mast cells
- Megakaryocytes
- Non-hematopoietic embryonic stem cells
• Involved in hematopoietic transition & required for hematopoietic stem cell
survival & self-renewal
Source: Hirabayashi et al. Int J Hematol (2017)
106: 175.
GATA 2 continues..

5. Studies related to GATA 2
NCBI PubMed

6. Recent studies on GATA 2
GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease
Connelly JJ, Wang T, Cox JE, Haynes C, Wang L, et al. (2006) GATA2 Is Associated with Familial Early-Onset
Coronary Artery Disease. PLOS Genetics 2(8): e139.https://doi.org/10.1371/journal.pgen.0020139
Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia
Su-Jiang Zhang, Li-Yuan Ma, Qiu-Hua Huang, Guo Li, Bai-Wei Gu, Xiao -Dong Gao, Jing-Yi Shi, Yue-
Ying Wang, Li Gao, Xun Cai, Rui-Bao Ren, Jiang Zhu, Zhu Chen, Sai-Juan Chen
Proceedings of the National Academy of Sciences Feb 2008, 105 (6) 2076-
2081; DOI:10.1073/pnas.0711824105
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and
mycobacterial infection (MonoMAC) syndrome
Amy P. Hsu, Elizabeth P. Sampaio, Javed Khan, Katherine R. Calvo, Jacob E. Lemieux, Smita Y. Patel, David
M. Frucht, Donald C. Vinh, Roger D. Auth, Alexandra F. Freeman, Kenneth N. Olivier, Gulbu Uzel, Christa
S. Zerbe, Christine Spalding, Stefania Pittaluga, Mark Raffeld, Douglas B. Kuhns, Li Ding, Michelle
L. Paulson, Beatriz E. Marciano, Juan C. Gea-Banacloche, Jordan S. Orange, Jennifer Cuellar-
Rodriguez, Dennis D. Hickstein and Steven M. Holland
Blood 2011 118:2653-2655; doi: https://doi.org/10.1182/blood-2011-05-356352

7. Gene structure & domains
NCBI Gene
• In human, GATA 2 located in chromosome 3.

8. • Contain Zinc Finger (ZF) domains in their DNA binding domain
NCBI Conserved Domains &
The Protein Model Portal

9. NCBI BLAST

11. Transcript variants
Ensembl Human (GRCh38.p12)
• Alternative splicing results in multiple transcript variants in GATA 2 gene.
• 6 transcripts (Splice variants)
Consensus coding DNA
sequence set

13. • Transcript ID : ENST00000341105.6
ExonsIntron
Untranslated
region
Exons 6
Coding exons 5
Transcript length 3367 bps
Translation length 480 residues
Type Protein coding

14. SNPs

15. Associated disease condition : Lymphedema, primary, with
myelodysplasia
Source : OMIM: 614038

16. • Patterns and locations of the GATA 2 mutations in patients with Acute myeloid
leukemia are shown below
31 10

17. Multiple Sequence Alignment
Clustal Omega
Species Accession No.
Homo sapiens NM_032638.4
Mus musculus NM_008090.5
Rattus norvegicus NM_033442.1
Gorilla gorilla XM_019024561.1
Gallus gallus NM_001003797.
1

19. ECR Browser
• Evolutionary relationship

20. Ensembl Browser
• Ensembl gene tree

21. GATA 2 associated human diseases
OMIM
• Early-onset coronary artery diseases
- Genotyped by Connelly et al. (2006)
- 17 SNPs in the GATA 2 gene were identified
• Chronic myeloid leukemia
- Identified by Zhang et al. (2008)
- Mutations were located within or close to the N-terminus of the
ZF2 domain
• Immunodeficiency 21
- Identified by Hsu et al. (2011)
- Caused by the mutations in the ZF2 domain
• Acute myeloid leukemia
- Analyzed by Hahn et al. (2011)

22. References
Hirabayashi, S., Wlodarski, M.W., Kozyra, E. et al. Int J Hematol (2017) 106: 175.
https://doi.org/10.1007/s12185-017-2285-2
Crispino, J. D., & Horwitz, M. S. (2017). GATA factor mutations in hematologic disease. Blood, 129(15), 2103–
2110. http://doi.org/10.1182/blood-2016-09-687889
Sievers, F, Wilm, A, Dineen, DG, Gibson, TJ, Karplus, K, Li, W, Lopez, R, McWilliam, H, Remmert, M, Söding, J,
Thompson, JD, and D Higgins. Fast, scalable generation of high‐quality protein multiple sequence alignments
using Clustal Omega. Molecular Systems Biology 7 Article number: 539
Goujon, M, McWilliam, H, Li, W, Valentin, F, Squizzato, S, Paern, J, and R Lopez. 2010. A new bioinformatics
analysis tools framework at EMBL‐EBI. Nucleic Acids Research 38 Suppl: W695‐9
https://www.ncbi.nlm.nih.gov/pubmed
https://asia.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000179348;r=3:128479427-
128493185;t=ENST00000341105
https://blast.ncbi.nlm.nih.gov/Blast.cgi
https://www.ebi.ac.uk/Tools/services/web/toolresult.ebi?jobId=clustalo-I20181102-061900-0266-83349582-
p1m
https://www.ebi.ac.uk/Tools/services/web/toolresult.ebi?jobId=clustalo-I20181102-093754-0488-39940830-
p1m&analysis=alignments
https://ecrbrowser.dcode.org/xB.php?db=hg19

23. THANK YOU