Gene Name	ACE2
Gene ID	59272
Gene Full Name	angiotensin converting enzyme 2
Gene Alias	ACEH
Transcripts	ENSG00000130234
Virus	SARS-CoV-2
Gene Type	protein-coding
HPA Location Info	Secreted to blood;
Membrane Info	Enzymes, Metabolic proteins, Predicted membrane proteins, Predicted secreted proteins, Transporters
Uniport_ID	Q9BYF1
HGNC ID	HGNC:13557
OMIM ID	300335
Summary	The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. ACE2 is known to be expressed in various human organs, and its organ- and cell-specific expression suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2, the latter is the causative agent of coronavirus disease-2019 (COVID-19). Multiple splice variants have been found for this gene and the dACE2 (or MIRb-ACE2) splice variant has been found to be interferon inducible. [provided by RefSeq, Nov 2020]

Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section

ID	PMID	Mutation	Gene/Protein/Region	Encoding Gene/Protein	Disease	Description	Detail
1	37243229	R493Q	RBD	S	COVID-19	G S I T	View
2	37804113	T484W	RBD	S	Cell line	R T	View
3	38168680	Q493K	S	S	COVID-19 Cell line	R T	View
4	37243229	F486P	RBD	S	COVID-19	G S T	View
5	37243229	F486S	RBD	S	COVID-19	G S T	View
6	38157379	F456L	RBD	S		G R T	View
7	37548589	L452R	RBD	S		G I T	View
8	37548589	R493Q	RBD	S		G I T	View
9	37548589	F486V	RBD	S		G I T	View
10	38157379	L455W	RBD	S		G R T	View
11	38373700	F486P	S	S		G T	View
12	38373700	R403K	S	S		G T	View
13	38373700	R493Q	S	S		G T	View
14	38157379	Y453W	RBD	S		G R T	View
15	37548589	E484A	RBM	S		G T	View
16	37548589	Y505H	RBD	S		G T	View
17	37548589	N501Y	RBD	S		G I T	View
18	37548589	Q498R	RBD	S		G I T	View
19	37153142	T478K	S	S	COVID-19	G R S T	View
20	37548589	G496S	RBD	S		G T	View
21	37477828	N501Y	RBD	S	COVID-19	G R C L T	View
22	37477828	E484K	RBD	S	COVID-19	G R C L T	View
23	37477828	F490S	RBD	S	COVID-19	G R C L T	View
24	37477828	N501T	RBD	S	COVID-19	G R C L T	View
25	37435034	N501Y	RBD	S	COVID-19	G R C L T	View
26	37435034	T478K	RBD	S	COVID-19	G R C L T	View
27	37483781	L452R	RBD	S	COVID-19	G C L T	View
28	37483781	T478K	RBD	S	COVID-19	G C L T	View
29	37477828	G446S	RBD	S	COVID-19	G R C L T	View
30	37243229	G446S	RBD	S	COVID-19	G S T	View
31	37243229	K417N	RBD	S	COVID-19	G S T	View
32	37243229	N440K	RBD	S	COVID-19	G S T	View
33	37243229	N501Y	RBD	S	COVID-19	G S I T	View
34	37243229	Q498R	RBD	S	COVID-19	G S I T	View
35	37243229	S477N	RBD	S	COVID-19	G S T	View
36	37243229	Y505H	RBD	S	COVID-19	G S T	View
37	37520374	D427G	RBD	S	COVID-19	G T	View
38	37243229	Q493R	RBD	S	COVID-19	G S T	View
39	37243229	G496S	RBD	S	COVID-19	G S T	View
40	37520374	N501Y	S	S	COVID-19	G T	View
41	37355034	N501Y	RBD	S	COVID-19	G T	View
42	37355034	Q498R	RBD	S	COVID-19	G T	View
43	37367188	F486S	RBD	S	COVID-19	G T	View
44	37511322	E484Q	S	S	COVID-19	G T	View
45	37511322	L452R	S	S	COVID-19	G T	View
46	37024459	A570D	S	S	COVID-19	G C L T	View
47	37024459	D614G	S	S	COVID-19	G C L T	View
48	37520374	L452R	RBD	S	COVID-19	G T	View
49	37520374	E484K	RBD	S	COVID-19	G L T	View
50	37520374	K417N	RBD	S	COVID-19	G L T	View
51	37520374	Y453F	RBD	S	COVID-19	G T	View
52	37477828	L452R	RBD	S	COVID-19	G R C L T	View
53	37483781	G339D	RBD	S	COVID-19	G C L T	View
54	37483781	G496S	RBD	S	COVID-19	G C L T	View
55	37483781	Q493R	RBD	S	COVID-19	G C L T	View
56	37483781	Q498R	RBD	S	COVID-19	G C L T	View
57	37483781	E484A	RBD	S	COVID-19	G C L T	View
58	37483781	K417N	RBD	S	COVID-19	G C L T	View
59	37483781	N501Y	RBD	S	COVID-19	G C L T	View
60	36986360	V1176F	S	S	COVID-19	S C L T	View
61	36998522	D614G	S	S	COVID-19	T	View
62	40020261	D614G	RBD	S	COVID-19	L T	View
63	36998522	G446Y	RBD	S	COVID-19	T	View
64	36998522	Y495G	RBD	S	COVID-19	T	View
65	36998522	L452F	RBD	S	COVID-19	T	View
66	36998522	E471Y	RBD	S	COVID-19	T	View
67	38424106	R493Q	S	S	Cell line	G T	View
68	37300832	F486P	RBD	S	Cell line	G S C L T	View
69	37300832	V445P	RBD	S	Cell line	G S C L T	View
70	37300832	Q498R	RBD	S	Cell line	G S C L T	View
71	37502147	S373P	RBD	S	Cell line	G T	View
72	37943512	Q493R	RBD	S	Cell line	G T	View
73	37943512	G496S	RBD	S	Cell line	G T	View
74	37943512	Y505H	RBD	S	Cell line	G T	View
75	37943512	Q498R	RBD	S	Cell line	G T	View
76	38279353	P681R	Furin cleavage site	S	Cell line	G T	View
77	38279353	L452R	RBD	S	Cell line	G T	View
78	38279353	D950N	S	S	Cell line	G T	View
79	37479708	N658S	S	S	Cell line	G S T	View
80	37479708	F486V	RBD	S	Cell line	G S T	View
81	37479708	L452R	RBD	S	Cell line	G S I T	View
82	37479708	R452L	RBD	S	Cell line	G S T	View
83	37479708	R493Q	RBD	S	Cell line	G S T	View
84	37479708	V486F	RBD	S	Cell line	G S T	View
85	38320601	A484K	RBD	S	Cell line	G T	View
86	37479708	G446S	S	S	Cell line	G S I T	View
87	37300832	E484R	RBD	S	Cell line	G S C L T	View
88	37479708	L452Q	S	S	Cell line	G S I T	View
89	38424106	Q493R	S	S	Cell line	G T	View
90	37300832	S371L	RBD	S	Cell line	G S C L T	View
91	37479708	E484A	RBD	S	Cell line	G S I T	View
92	37479708	Q493R	RBD	S	Cell line	G S T	View
93	37479708	Q498R	RBD	S	Cell line	G S T	View
94	37479708	T478K	RBD	S	Cell line	G S T	View
95	37943512	E484A	RBD	S	Cell line	G T	View
96	37943512	T478K	RBD	S	Cell line	G T	View
97	37943512	N501Y	RBD	S	Cell line	G T	View
98	37943512	K417T	RBD	S	Cell line	G T	View
99	37943512	K417N	RBD	S	Cell line	G T	View
100	37300832	N501Y	RBD	S	Cell line	G S C L T	View
101	37452031	G447D	RBD	S	Cell line	R S T	View
102	37452031	G447H	RBD	S	Cell line	R S T	View
103	37452031	G485P	RBD	S	Cell line	R S T	View
104	37452031	G502M	RBD	S	Cell line	R S T	View
105	37452031	K444M	RBD	S	Cell line	R S T	View
106	37452031	N487G	RBD	S	Cell line	R S T	View
107	37452031	S443N	RBD	S	Cell line	R S T	View
108	37452031	T500D	RBD	S	Cell line	R S T	View
109	37452031	Y489S	RBD	S	Cell line	R S T	View
110	37041132	A372S	S	S	Cell line	R S T	View
111	37041132	A372T	S	S	Cell line	R S T	View
112	37041132	D614G	S	S	Cell line	R S T	View
113	37041132	E484K	S	S	Cell line	R S T	View
114	37041132	F374K	S	S	Cell line	R S T	View
115	37041132	G413N	S	S	Cell line	R S T	View
116	37041132	G502D	S	S	Cell line	R S T	View
117	37041132	K386E	S	S	Cell line	R S T	View
118	37041132	K386N	S	S	Cell line	R S T	View
119	37041132	K386V	S	S	Cell line	R S T	View
120	37041132	K417N	S	S	Cell line	R S T	View
121	37041132	K417T	S	S	Cell line	R S T	View
122	37041132	L390E	S	S	Cell line	R S T	View
123	37041132	L390S	S	S	Cell line	R S T	View
124	37041132	L390T	S	S	Cell line	R S T	View
125	37041132	L452R	S	S	Cell line	R S T	View
126	37041132	M900V	S	S	Cell line	R S T	View
127	37041132	N440F	S	S	Cell line	R S T	View
128	37041132	N440K	S	S	Cell line	R S T	View
129	37041132	N501F	S	S	Cell line	D R S T	View
130	37041132	N501T	S	S	Cell line	D R S T	View
131	37041132	N501Y	S	S	Cell line	R S T	View
132	37041132	P384D	S	S	Cell line	R S T	View
133	37041132	Q493A	S	S	Cell line	D R S T	View
134	37041132	Q493M	S	S	Cell line	D R S T	View
135	37041132	Q498H	S	S	Cell line	D R S T	View
136	37041132	Q498W	S	S	Cell line	R S T	View
137	37041132	Q498Y	S	S	Cell line	D R S T	View
138	37041132	S205F	S	S	Cell line	D R S T	View
139	37041132	S383N	S	S	Cell line	R S T	View
140	37041132	S477N	S	S	Cell line	R S T	View
141	37041132	T1117M	S	S	Cell line	R S T	View
142	37041132	T430Q	S	S	Cell line	R S T	View
143	37041132	V382E	S	S	Cell line	R S T	View
144	37041132	Y369N	S	S	Cell line	R S T	View
145	37041132	Y453F	S	S	Cell line	D R S T	View
146	37132357	D614G	S	S	Cell line	T	View

Data ID	Experiment type	Sample number	Platform
GSE167075	MeRIP-seq;RNA-seq	16	Illumina NovaSeq 6000 (Homo sapiens; Severe acute respiratory syndrome coronavirus 2);Illumina NovaSeq 6000 (Chlorocebus aethiops; Severe acute respiratory syndrome coronavirus 2)
GSE190680	RNA-seq	100	Illumina NovaSeq 6000 (Homo sapiens)
GSE207923	RNA-seq	27	Illumina NovaSeq 6000 (Homo sapiens)
GSE152641	RNA-seq	86	Illumina NovaSeq 6000 (Homo sapiens)
GSE283771	RNA-seq	6	Illumina HiSeq 2000 (Homo sapiens)
GSE211934	RNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
GSE163959	RNA-seq	48	Illumina NextSeq 500 (Homo sapiens)
GSE166253	RNA-seq	26	HiSeq X Ten (Homo sapiens)
GSE153218	RNA-seq	16	Illumina NextSeq 500 (Homo sapiens)
GSE162323	RNA-seq	42	Illumina NovaSeq 6000 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens; Severe acute respiratory syndrome coronavirus 2)
GSE199816	RNA-seq	27	DNBSEQ-G400 (Homo sapiens)
GSE215262	RNA-seq	25	Illumina NovaSeq 6000 (Homo sapiens)