lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	59272
Symbol	ACE2
Synonymous	ACEH
Full name	angiotensin I converting enzyme 2
Gene description	ACE-related carboxypeptidase\|angiotensin I converting enzyme (peptidyl-dipeptidase A) 2\|angiotensin-converting enzyme 2\|angiotensin-converting enzyme homolog\|metalloprotease MPROT15\|peptidyl-dipeptidase A
Cytoband	Xp22
Gene type	protein-coding
Synonymous	MIM:300335; HGNC:HGNC:13557; Ensembl:ENSG00000130234; HPRD:02274; Vega:OTTHUMG00000021177

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1857A>C; p.K619N; 23:15570334-15570334	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.102C>T; p.H34H; 23:15600810-15600810	breast	carcinoma	Substitution - coding silent
c.61A>G; p.I21V; 23:15600851-15600851	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2049C>A; p.F683L; 23:15566318-15566318	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2049C>A; p.F683L; 23:15566318-15566318	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1974A>T; p.V658V; 23:15567749-15567749	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.440G>T; p.G147V; 23:15591856-15591856	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.348G>T; p.L116F; 23:15592320-15592320	skin	malignant_melanoma	Substitution - Missense
c.942C>A; p.F314L; 23:15581349-15581349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1863G>A; p.R621R; 23:15570328-15570328	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2353G>A; p.D785N; 23:15561970-15561970	skin	malignant_melanoma	Substitution - Missense
c.577G>A; p.A193T; 23:15591719-15591719	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1437G>T; p.E479D; 23:15575671-15575671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1458G>T; p.G486G; 23:15573450-15573450	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1373A>C; p.K458T; 23:15575735-15575735	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1234G>A; p.A412T; 23:15578152-15578152	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1256A>C; p.K419T; 23:15578130-15578130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1100A>T; p.D367V; 23:15578286-15578286	prostate	carcinoma	Substitution - Missense
c.1471G>T; p.V491L; 23:15573437-15573437	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1413_1414CC>TT; p.Q472*; 23:15575694-15575695	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.901G>T; p.A301S; 23:15581390-15581390	liver	carcinoma	Substitution - Missense
c.2324G>T; p.R775I; 23:15561999-15561999	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.657C>T; p.R219R; 23:15589383-15589383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.558G>C; p.L186F; 23:15591738-15591738	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1805C>A; p.S602Y; 23:15571656-15571656	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1403T>C; p.I468T; 23:15575705-15575705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1481A>G; p.D494G; 23:15573427-15573427	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1837T>C; p.Y613H; 23:15571624-15571624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1321A>G; p.K441E; 23:15575787-15575787	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2405A>G; p.Q802R; 23:15561918-15561918	pancreas	carcinoma	Substitution - Missense
c.2405A>G; p.Q802R; 23:15561918-15561918	pancreas	carcinoma	Substitution - Missense
c.2405A>G; p.Q802R; 23:15561918-15561918	pancreas	carcinoma	Substitution - Missense
c.1091T>C; p.V364A; 23:15578295-15578295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1938T>C; p.S646S; 23:15567785-15567785	prostate	carcinoma	Substitution - coding silent
c.2147G>A; p.R716H; 23:15564186-15564186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1910A>T; p.D637V; 23:15567813-15567813	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.635T>G; p.V212G; 23:15589405-15589405	breast	carcinoma	Substitution - Missense
c.2365G>T; p.G789*; 23:15561958-15561958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.82delT; p.L29fs*34; 23:15600830-15600830	large_intestine; colon	carcinoma	Deletion - Frameshift
c.1946A>G; p.Y649C; 23:15567777-15567777	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1946A>G; p.Y649C; 23:15567777-15567777	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1946A>G; p.Y649C; 23:15567777-15567777	large_intestine; colon	carcinoma	Substitution - Missense
c.1946A>G; p.Y649C; 23:15567777-15567777	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.383G>T; p.S128I; 23:15592285-15592285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.86delT; p.L29fs*34; 23:15600826-15600826	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1911C>T; p.D637D; 23:15567812-15567812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1277C>T; p.P426L; 23:15578109-15578109	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2109C>A; p.A703A; 23:15566258-15566258	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1688C>A; p.S563*; 23:15571773-15571773	prostate	adenoma	Substitution - Nonsense
c.78G>T; p.K26N; 23:15600834-15600834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1931G>A; p.R644Q; 23:15567792-15567792	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.326C>T; p.S109L; 23:15594864-15594864	skin; mucosal	malignant_melanoma	Substitution - Missense
c.974A>C; p.Q325P; 23:15581317-15581317	urinary_tract; bladder	carcinoma	Substitution - Missense
c.917G>T; p.R306I; 23:15581374-15581374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.111A>G; p.E37E; 23:15600801-15600801	pancreas	carcinoma	Substitution - coding silent
c.412C>T; p.P138S; 23:15592256-15592256	skin	malignant_melanoma	Substitution - Missense
c.516C>T; p.V172V; 23:15591780-15591780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.792T>C; p.A264A; 23:15587763-15587763	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.2269A>G; p.I757V; 23:15564064-15564064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1731G>T; p.K577N; 23:15571730-15571730	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1006C>T; p.P336S; 23:15581285-15581285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2210C>T; p.P737L; 23:15564123-15564123	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.100C>A; p.H34N; 23:15600812-15600812	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.178C>G; p.Q60E; 23:15600734-15600734	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815delG; p.G272fs*10; 23:15585560-15585560	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.583C>T; p.H195Y; 23:15591713-15591713	skin	malignant_melanoma	Substitution - Missense
c.583C>T; p.H195Y; 23:15591713-15591713	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.958C>T; p.L320F; 23:15581333-15581333	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2338C>T; p.P780S; 23:15561985-15561985	skin	malignant_melanoma	Substitution - Missense
c.616G>T; p.D206Y; 23:15589424-15589424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.932C>T; p.A311V; 23:15581359-15581359	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180A>C; p.N394H; 23:15578206-15578206	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1800G>T; p.K600N; 23:15571661-15571661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2302C>T; p.R768W; 23:15564031-15564031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1741G>A; p.V581I; 23:15571720-15571720	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1091T>G; p.V364G; 23:15578295-15578295	breast	carcinoma	Substitution - Missense
c.2297G>A; p.R766K; 23:15564036-15564036	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.834G>C; p.L278L; 23:15585541-15585541	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1465G>T; p.E489*; 23:15573443-15573443	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1882C>T; p.L628F; 23:15570309-15570309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.988A>C; p.N330H; 23:15581303-15581303	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1460T>G; p.V487G; 23:15573448-15573448	breast	carcinoma	Substitution - Missense
c.1507C>T; p.L503L; 23:15573401-15573401	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1665-7delT; p.?; 23:15571803-15571803	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.611G>T; p.R204I; 23:15589429-15589429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1071G>T; p.R357S; 23:15578315-15578315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2184G>A; p.Q728Q; 23:15564149-15564149	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.697-1G>A; p.?; 23:15587859-15587859	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1180A>G; p.N394D; 23:15578206-15578206	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.768C>G; p.I256M; 23:15587787-15587787	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>T; p.E145*; 23:15592235-15592235	breast	carcinoma	Substitution - Nonsense
c.2151G>A; p.L717L; 23:15564182-15564182	skin	malignant_melanoma	Substitution - coding silent
c.818G>A; p.R273K; 23:15585557-15585557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1118delA; p.H373fs*20; 23:15578268-15578268	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Deletion - Frameshift
c.131C>T; p.S44L; 23:15600781-15600781	skin	malignant_melanoma	Substitution - Missense
c.2220C>T; p.S740S; 23:15564113-15564113	skin	malignant_melanoma	Substitution - coding silent
c.391A>C; p.K131Q; 23:15592277-15592277	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1415A>C; p.Q472P; 23:15575693-15575693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.582T>G; p.N194K; 23:15591714-15591714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.59C>T; p.T20I; 23:15600853-15600853	skin; trunk	malignant_melanoma	Substitution - Missense
c.115C>A; p.L39M; 23:15600797-15600797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1825G>A; p.D609N; 23:15571636-15571636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.850C>T; p.P284S; 23:15585525-15585525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.54G>A; p.Q18Q; 23:15600858-15600858	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1494T>C; p.C498C; 23:15573414-15573414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1213G>T; p.G405W; 23:15578173-15578173	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.472T>C; p.Y158H; 23:15591824-15591824	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2303G>T; p.R768L; 23:15564030-15564030	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1349T>C; p.L450P; 23:15575759-15575759	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1349T>C; p.L450P; 23:15575759-15575759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1769C>T; p.P590L; 23:15571692-15571692	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1195G>A; p.G399R; 23:15578191-15578191	skin	malignant_melanoma	Substitution - Missense
c.1540C>T; p.R514*; 23:15573368-15573368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1540C>T; p.R514*; 23:15573368-15573368	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1540C>T; p.R514*; 23:15573368-15573368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1808T>G; p.F603C; 23:15571653-15571653	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.656G>A; p.R219H; 23:15589384-15589384	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1348C>T; p.L450L; 23:15575760-15575760	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1100A>G; p.D367G; 23:15578286-15578286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1125G>T; p.E375D; 23:15578261-15578261	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.697-1G>T; p.?; 23:15587859-15587859	urinary_tract; bladder	carcinoma	Unknown
c.697-1G>T; p.?; 23:15587859-15587859	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2195G>T; p.G732V; 23:15564138-15564138	ovary	other; neoplasm	Substitution - Missense
c.1297+1G>A; p.?; 23:15578088-15578088	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2195G>T; p.G732V; 23:15564138-15564138	ovary	other; neoplasm	Substitution - Missense
c.732G>A; p.V244V; 23:15587823-15587823	skin	malignant_melanoma	Substitution - coding silent
c.506G>T; p.R169I; 23:15591790-15591790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.506G>T; p.R169I; 23:15591790-15591790	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.656G>C; p.R219P; 23:15589384-15589384	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2367A>G; p.G789G; 23:15561956-15561956	central_nervous_system; brain	glioma	Substitution - coding silent
c.2061A>T; p.A687A; 23:15566306-15566306	skin	malignant_melanoma	Substitution - coding silent
c.1192G>A; p.E398K; 23:15578194-15578194	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1101C>T; p.D367D; 23:15578285-15578285	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2025G>A; p.L675L; 23:15566342-15566342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1101C>T; p.D367D; 23:15578285-15578285	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1226C>T; p.S409L; 23:15578160-15578160	skin	malignant_melanoma	Substitution - Missense
c.971C>G; p.T324S; 23:15581320-15581320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1802A>T; p.N601I; 23:15571659-15571659	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1010G>A; p.G337E; 23:15581281-15581281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.631G>T; p.G211W; 23:15589409-15589409	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.140C>G; p.S47C; 23:15600772-15600772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.57C>T; p.S19S; 23:15600855-15600855	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2238_2239insT; p.G747fs*27; 23:15564094-15564095	lung	carcinoma; adenocarcinoma	Insertion - Frameshift

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation