Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Angiotensin converting enzyme 2

This is a new emerging candidate gene responsible for hypertension.

Gene Structure

The gene exhibits 60% sequence similarity to ACE.

Expression

The enzyme seems to be an important element of tissue renin-agiotensin system. To the moment it has been found in murine heart and kidneys.

Phenotype

In three distinct models of hypertension, reduced expression of the protein in the kidney correlated with blood pressure. Still, there are not known human diseases caused by mutations of ACE2.

Gene Regulation

The catalytic activity of ACE2 is excerted by cleavage of a single amino acid residue at the carboxyl terminus. The physiological role is conversion of angiotensin II to angiotensin-(1-7). The enzyme is resistant to ACE inhibitors.

Genetests:

Research Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Hypertension
ACE
ACE2
AGT
Benign hyperproreninemia
REN
Monogenic hypertension
Apparent mineralocorticoid excess
HSD11B2
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hyperaldosteronism type 2
Hyperaldosteronism type 3
KCNJ5
Hyperaldosteronism type 4
CACNA1D
CACNA1H
Hypertension and brachydactyly syndrome
PDE3A
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Preeclampsia
APOL1
Preeclampsia 1
Preeclampsia 2
Preeclampsia 3
Preeclampsia 4
STOX1
Preeclampsia 5
CORIN
Salt-sensitive essential hypertension
CYP3A5
VEGFC

References:

1.

Chappel MC et al. (2006) ACE and ACE2: their role to balance the expression of angiotensin II and angiotensin-(1-7).

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2.

NCBI article

NCBI 59272 [^]
3.

OMIM.ORG article

Omim 300335 [^]
4.

Wikipedia article

Wikipedia EN (Angiotensin-converting_enzyme_2) [^]
Update: April 29, 2019