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	488
Symbol	ATP2A2
Synonymous	ATP2B\|DAR\|DD\|SERCA2
Full name	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Gene description	ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2\|SR Ca(2+)-ATPase 2\|calcium pump 2\|calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform\|cardiac Ca2+ ATPase\|endoplasmic reticulum class 1/2 Ca(2+) ATPase\|sarcopla
Cytoband	12q24.11
Gene type	protein-coding
Synonymous	MIM:108740; HGNC:HGNC:812; Ensembl:ENSG00000174437; HPRD:00161; Vega:OTTHUMG00000169327

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1653G>T; p.W551C; 12:110339613-110339613	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1785C>T; p.C595C; 12:110340682-110340682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2152G>A; p.A718T; 12:110342282-110342282	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1847C>T; p.A616V; 12:110340744-110340744	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2769G>A; p.R923R; 12:110346028-110346028	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2030G>C; p.R677P; 12:110340927-110340927	urinary_tract; bladder	carcinoma	Substitution - Missense
c.851A>G; p.H284R; 12:110327773-110327773	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1542+10G>T; p.?; 12:110339413-110339413	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.1460T>G; p.F487C; 12:110339321-110339321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1802C>T; p.P601L; 12:110340699-110340699	skin	malignant_melanoma	Substitution - Missense
c.1864A>G; p.M622V; 12:110340761-110340761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1910G>A; p.R637H; 12:110340807-110340807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2239G>C; p.E747Q; 12:110342369-110342369	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1812C>T; p.I604I; 12:110340709-110340709	skin	malignant_melanoma	Substitution - coding silent
c.3118T>C; p.F1040L; 12:110346459-110346459	skin	malignant_melanoma	Substitution - Missense
c.333T>C; p.N111N; 12:110296607-110296607	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.698G>A; p.G233D; 12:110327620-110327620	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2294C>T; p.S765L; 12:110342424-110342424	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2684C>A; p.P895Q; 12:110345325-110345325	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1784G>A; p.C595Y; 12:110340681-110340681	prostate	carcinoma	Substitution - Missense
c.2529C>T; p.V843V; 12:110344893-110344893	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2058C>T; p.I686I; 12:110340955-110340955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.811G>T; p.V271F; 12:110327733-110327733	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.487A>G; p.I163V; 12:110323015-110323015	liver	carcinoma	Substitution - Missense
c.1855C>T; p.R619W; 12:110340752-110340752	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.487A>G; p.I163V; 12:110323015-110323015	liver	carcinoma	Substitution - Missense
c.2185G>A; p.A729T; 12:110342315-110342315	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1384C>T; p.L462F; 12:110334108-110334108	NS	malignant_melanoma	Substitution - Missense
c.2185G>A; p.A729T; 12:110342315-110342315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2340T>G; p.L780L; 12:110343253-110343253	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2716A>G; p.I906V; 12:110345357-110345357	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2996A>G; p.Q999R; 12:110346337-110346337	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2440G>A; p.D814N; 12:110343353-110343353	breast	carcinoma	Substitution - Missense
c.2462G>A; p.R821Q; 12:110343375-110343375	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1110C>T; p.D370D; 12:110332611-110332611	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1110C>T; p.D370D; 12:110332611-110332611	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2692A>T; p.M898L; 12:110345333-110345333	skin; extremity	malignant_melanoma	Substitution - Missense
c.2625T>A; p.C875*; 12:110345266-110345266	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1842G>A; p.R614R; 12:110340739-110340739	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1842G>A; p.R614R; 12:110340739-110340739	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2057T>G; p.I686S; 12:110340954-110340954	skin	malignant_melanoma	Substitution - Missense
c.2848G>A; p.E950K; 12:110346107-110346107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2602C>T; p.Q868*; 12:110344966-110344966	skin	malignant_melanoma	Substitution - Nonsense
c.1742_1743CC>TT; p.A581V; 12:110339702-110339703	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1220A>G; p.Y407C; 12:110333216-110333216	thyroid	carcinoma	Substitution - Missense
c.533C>T; p.S178L; 12:110323061-110323061	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.533C>T; p.S178L; 12:110323061-110323061	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.533C>T; p.S178L; 12:110323061-110323061	pancreas	carcinoma	Substitution - Missense
c.1406_1407insA; p.N469fs*8; 12:110334130-110334131	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.455A>T; p.E152V; 12:110296729-110296729	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2461C>T; p.R821W; 12:110343374-110343374	breast	carcinoma	Substitution - Missense
c.2740A>T; p.S914C; 12:110345381-110345381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1821C>T; p.A607A; 12:110340718-110340718	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.1923C>T; p.F641F; 12:110340820-110340820	skin	malignant_melanoma	Substitution - coding silent
c.2560T>A; p.W854R; 12:110344924-110344924	thyroid	other; neoplasm	Substitution - Missense
c.1453C>G; p.L485V; 12:110339314-110339314	liver	carcinoma	Substitution - Missense
c.657T>A; p.A219A; 12:110327579-110327579	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1859T>C; p.V620A; 12:110340756-110340756	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2179delA; p.T728fs*29; 12:110342309-110342309	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2503C>T; p.R835C; 12:110343416-110343416	skin	malignant_melanoma	Substitution - Missense
c.2790C>T; p.I930I; 12:110346049-110346049	skin	malignant_melanoma	Substitution - coding silent
c.2097+1G>A; p.?; 12:110340995-110340995	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2658T>C; p.D886D; 12:110345299-110345299	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.114C>A; p.S38S; 12:110281903-110281903	skin	malignant_melanoma	Substitution - coding silent
c.2062G>T; p.E688*; 12:110340959-110340959	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2059G>A; p.V687I; 12:110340956-110340956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.213A>G; p.I71M; 12:110282789-110282789	urinary_tract; bladder	carcinoma	Substitution - Missense
c.479C>T; p.P160L; 12:110323007-110323007	skin	malignant_melanoma	Substitution - Missense
c.725C>T; p.T242I; 12:110327647-110327647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2797_2798GT>AA; p.V933K; 12:110346056-110346057	skin	malignant_melanoma	Substitution - Missense
c.2797_2798GT>AA; p.V933K; 12:110346056-110346057	skin	malignant_melanoma	Substitution - Missense
c.72G>A; p.L24L; 12:110281861-110281861	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2671G>T; p.E891*; 12:110345312-110345312	skin; upper_arm	malignant_melanoma	Substitution - Nonsense
c.72G>A; p.L24L; 12:110281861-110281861	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1096-1G>A; p.?; 12:110332596-110332596	urinary_tract; bladder	carcinoma	Unknown
c.1096-1G>A; p.?; 12:110332596-110332596	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1223A>G; p.D408G; 12:110333219-110333219	skin	malignant_melanoma	Substitution - Missense
c.2848G>T; p.E950*; 12:110346107-110346107	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.58G>A; p.E20K; 12:110281847-110281847	skin	malignant_melanoma	Substitution - Missense
c.349G>A; p.E117K; 12:110296623-110296623	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2098-8C>A; p.?; 12:110342220-110342220	kidney	other; neoplasm	Unknown
c.2038C>A; p.P680T; 12:110340935-110340935	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1650G>A; p.E550E; 12:110339610-110339610	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.216T>C; p.S72S; 12:110282792-110282792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.216T>C; p.S72S; 12:110282792-110282792	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3023C>T; p.S1008L; 12:110346364-110346364	kidney	other; neoplasm	Substitution - Missense
c.1628A>C; p.K543T; 12:110339588-110339588	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.671T>C; p.V224A; 12:110327593-110327593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.690C>T; p.T230T; 12:110327612-110327612	thyroid	carcinoma	Substitution - coding silent
c.2749G>A; p.E917K; 12:110346008-110346008	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.631G>A; p.G211S; 12:110327553-110327553	skin	malignant_melanoma	Substitution - Missense
c.2941G>A; p.E981K; 12:110346282-110346282	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1747T>A; p.F583I; 12:110339707-110339707	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2860-2A>G; p.?; 12:110346199-110346199	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.1768C>G; p.L590V; 12:110340665-110340665	liver	carcinoma	Substitution - Missense
c.1768C>G; p.L590V; 12:110340665-110340665	liver	carcinoma	Substitution - Missense
c.2547T>C; p.G849G; 12:110344911-110344911	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2278A>C; p.I760L; 12:110342408-110342408	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2547T>C; p.G849G; 12:110344911-110344911	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1542+7A>T; p.?; 12:110339410-110339410	liver	carcinoma	Unknown
c.2776C>T; p.P926S; 12:110346035-110346035	skin	malignant_melanoma	Substitution - Missense
c.1472G>A; p.R491K; 12:110339333-110339333	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1472G>A; p.R491K; 12:110339333-110339333	skin; trunk	malignant_melanoma	Substitution - Missense
c.1442A>G; p.K481R; 12:110339303-110339303	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2946G>A; p.T982T; 12:110346287-110346287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2029C>T; p.R677*; 12:110340926-110340926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2320A>G; p.I774V; 12:110343233-110343233	liver	carcinoma	Substitution - Missense
c.1160C>T; p.S387L; 12:110332661-110332661	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2502C>T; p.F834F; 12:110343415-110343415	skin	malignant_melanoma	Substitution - coding silent
c.506A>C; p.K169T; 12:110323034-110323034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2598C>T; p.F866F; 12:110344962-110344962	skin	malignant_melanoma	Substitution - coding silent
c.2773delC; p.W927fs*19; 12:110346032-110346032	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2729A>G; p.N910S; 12:110345370-110345370	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1771A>G; p.T591A; 12:110340668-110340668	breast	carcinoma	Substitution - Missense
c.742C>T; p.P248S; 12:110327664-110327664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1610C>T; p.T537I; 12:110339570-110339570	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2800G>C; p.G934R; 12:110346059-110346059	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1826C>A; p.S609Y; 12:110340723-110340723	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2925C>T; p.P975P; 12:110346266-110346266	skin	malignant_melanoma	Substitution - coding silent
c.2379G>T; p.W793C; 12:110343292-110343292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2030G>T; p.R677L; 12:110340927-110340927	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.136+1G>C; p.?; 12:110282622-110282622	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1537G>A; p.V513M; 12:110339398-110339398	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2880G>A; p.P960P; 12:110346221-110346221	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.2918C>T; p.S973F; 12:110346259-110346259	skin	malignant_melanoma	Substitution - Missense
c.1011G>C; p.P337P; 12:110327933-110327933	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2514delT; p.I839fs*31; 12:110343427-110343427	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.2104G>T; p.D702Y; 12:110342234-110342234	skin	malignant_melanoma	Substitution - Missense
c.2251G>A; p.A751T; 12:110342381-110342381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1108G>C; p.D370H; 12:110332609-110332609	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2693T>C; p.M898T; 12:110345334-110345334	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2009T>G; p.L670R; 12:110340906-110340906	skin	malignant_melanoma	Substitution - Missense
c.2015C>T; p.A672V; 12:110340912-110340912	skin	malignant_melanoma	Substitution - Missense
c.1583G>C; p.R528P; 12:110339543-110339543	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2204C>T; p.A735V; 12:110342334-110342334	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.985delA; p.N330fs*55; 12:110327907-110327907	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1409C>T; p.A470V; 12:110334133-110334133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.837C>A; p.F279L; 12:110327759-110327759	pancreas	carcinoma	Substitution - Missense
c.1000C>T; p.R334*; 12:110327922-110327922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3128G>T; p.*1043L; 12:110346469-110346469	liver	carcinoma	Nonstop extension
c.3128G>T; p.*1043L; 12:110346469-110346469	liver	carcinoma	Nonstop extension
c.1776C>T; p.F592F; 12:110340673-110340673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2003C>T; p.A668V; 12:110340900-110340900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2774C>G; p.P925R; 12:110346033-110346033	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2401C>T; p.L801L; 12:110343314-110343314	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.691G>A; p.E231K; 12:110327613-110327613	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.767T>G; p.F256C; 12:110327689-110327689	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2760C>A; p.S920S; 12:110346019-110346019	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2301C>T; p.N767N; 12:110342431-110342431	breast	carcinoma	Substitution - coding silent
c.2465A>G; p.N822S; 12:110343378-110343378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1917C>T; p.G639G; 12:110340814-110340814	breast	carcinoma	Substitution - coding silent
c.449T>A; p.I150N; 12:110296723-110296723	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2096T>A; p.M699K; 12:110340993-110340993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2640G>C; p.P880P; 12:110345281-110345281	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2116G>T; p.D706Y; 12:110342246-110342246	skin	malignant_melanoma	Substitution - Missense
c.1348G>C; p.E450Q; 12:110334072-110334072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1984C>T; p.P662S; 12:110340881-110340881	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.189G>A; p.R63R; 12:110282765-110282765	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.189G>A; p.R63R; 12:110282765-110282765	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1495A>G; p.T499A; 12:110339356-110339356	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2747C>T; p.S916F; 12:110346006-110346006	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation