**Angiotensin-converting enzyme 2 (ACE2)**

***What chromosome is ACE2 on?***
In humans (Homo sapiens) it is located on the chromosome X

***How many exons does this gene have?***
18 exons but new research have predicted 8 novel exons that might participate in alternative splicing.

***Briefly describe how the gene works.***
The peptidyl dipeptidase A, carboxycathepsin (ACE2) cleaves the C-terminal dipeptide from angiotensin I to create the vasoconstrictor peptide, angiotensin II (ACE2). ACE2 gene expession can be done in multiple tissues.

***What diseases are caused by mutations in the gene?***
Decreased expression of ACE2 is associated with cardiomiopahyes, atherosclerosis, chronic Kidney disease, cardiovascular problems, and severe acute respiratory syndrome.

***Where did you find this information?*
Databases and papers:**
https://www.ncbi.nlm.nih.gov/gene/59272
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACE2
Yan, R., Zhang, Y., Li, Y., Xia, L., Guo, Y., & Zhou, Q. (2020). Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2. Science, 367(6485), 1444-1448.
Tabish, M. (2020). Alternative splicing of ACE2 possibly generates variants that may limit the entry of SARS-CoV-2: a potential therapeutic approach using SSOs. Clinical Science, 134(10), 1143-1150.
Kumar, A., Rani, B., Sharma, R., Kaur, G., Prasad, R., Bahl, A., & Khullar, M. (2018). ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies. Molecular and Cellular Biochemistry, 438(1-2), 167-174.

***Find a paper that describes an aspect of ACE2's function***
Donoghue, M., Hsieh, F., Baronas, E., Godbout, K., Gosselin, M., Stagliano, N., ... & Breitbart, R. E. (2000). A novel angiotensin-converting enzyme–related carboxypeptidase (ACE2) converts angiotensin I to angiotensin 1-9. Circulation research, 87(5), e1-e9.

***What do you hope to learn in BIT150?***
Learn about databases and how to explore softwares related with genomics.