| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4948 |
Name | OCA2 |
Synonymous | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1;oculocutaneous albinism II;OCA2;oculocutaneous albinism II |
Definition | P protein|eye color 2 (central brown)|eye color 3 (brown)|hair color 3 (brown)|melanocyte-specific transporter protein|oculocutaneous albinism II (pink-eye dilution homolog, mouse)|pink-eyed dilution protein homolog|total brown iris pigmentation |
Position | 15q |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for OCA2 | ||
PCGP somatic mutation [Top] | ||
There is no record for OCA2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.472C>G; p.L158V; |
lung | carcinoma; small_cell_carcinoma |
c.1327G>A; p.V443I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1696C>T; p.R566C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1114G>A; p.D372N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1839A>C; p.K613N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1015G>A; p.A339T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2245-2A>G; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2255T>C; p.L752P; |
pancreas | carcinoma; acinar_carcinoma |
c.118C>T; p.R40W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.516-3C>G; p.?; |
eye; uveal_tract | malignant_melanoma; spindle |
c.240T>G; p.S80S; |
oesophagus | carcinoma; adenocarcinoma |
c.389G>T; p.S130I; |
oesophagus | carcinoma; adenocarcinoma |
c.1717C>T; p.R573C; |
oesophagus | carcinoma; adenocarcinoma |
c.21C>T; p.D7D; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2364G>A; p.S788S; |
stomach | carcinoma; adenocarcinoma |
c.484C>A; p.P162T; |
liver | carcinoma |
c.1183-5C>T; p.?; |
liver | carcinoma |
c.2317G>A; p.A773T; 15:25770144-25770144 |
breast | carcinoma; ductal_carcinoma |
c.1364G>T; p.R455M; |
liver | carcinoma |
c.1785A>G; p.R595R; |
liver | carcinoma |
c.1028C>T; p.A343V; |
large_intestine; colon | carcinoma |
c.422G>T; p.S141I; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1785-1G>T; p.?; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.8T>A; p.L3Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1415T>A; p.V472E; |
lung | carcinoma; adenocarcinoma |
c.125C>A; p.A42D; |
lung | carcinoma; adenocarcinoma |
c.1993G>T; p.A665S; |
lung | carcinoma; adenocarcinoma |
c.1133A>T; p.H378L; |
lung | carcinoma; adenocarcinoma |
c.2380G>C; p.A794P; |
lung | carcinoma; adenocarcinoma |
c.2327C>G; p.A776G; |
lung | carcinoma; adenocarcinoma |
c.1593C>A; p.Y531*; |
lung | carcinoma; adenocarcinoma |
c.2444delC; p.P815fs*2; |
lung | carcinoma; adenocarcinoma |
c.2334G>T; p.L778L; |
lung | carcinoma; adenocarcinoma |
c.2374G>T; p.V792L; |
lung | carcinoma; adenocarcinoma |
c.1428C>T; p.N476N; |
lung | carcinoma; adenocarcinoma |
c.1324A>T; p.N442Y; |
lung | carcinoma; adenocarcinoma |
c.29G>A; p.R10Q; |
lung | carcinoma; adenocarcinoma |
c.402G>T; p.W134C; |
lung | carcinoma; adenocarcinoma |
c.2061G>T; p.A687A; |
lung | carcinoma; adenocarcinoma |
c.2383G>C; p.G795R; |
lung | carcinoma; adenocarcinoma |
c.1627G>T; p.E543*; |
lung | carcinoma; adenocarcinoma |
c.1492C>A; p.L498M; |
lung | carcinoma; adenocarcinoma |
c.1306C>T; p.L436F; |
lung | carcinoma; adenocarcinoma |
c.1015G>T; p.A339S; |
lung | carcinoma; adenocarcinoma |
c.1429A>T; p.I477F; |
lung | carcinoma; adenocarcinoma |
c.227G>A; p.R76K; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1763G>C; p.R588P; |
NS | malignant_melanoma |
c.1574C>T; p.P525L; |
skin; trunk | malignant_melanoma |
c.1075G>C; p.G359R; |
ovary | carcinoma |
c.2384G>T; p.G795V; |
lung | carcinoma; non_small_cell_carcinoma |
c.1075G>C; p.G359R; |
ovary | carcinoma |
c.2262C>A; p.N754K; |
prostate | carcinoma |
c.1222G>A; p.D408N; |
pancreas | NS |
c.1975A>G; p.I659V; |
liver | carcinoma |
c.169G>T; p.G57W; |
lung | carcinoma; small_cell_carcinoma |
c.520T>C; p.C174R; |
lung | carcinoma; small_cell_carcinoma |
c.1064C>T; p.A355V; |
large_intestine; colon | adenoma |
c.1091T>C; p.L364P; |
endometrium | carcinoma; serous_carcinoma |
c.632C>T; p.P211L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.898G>T; p.V300L; |
lung | carcinoma; adenocarcinoma |
c.119G>A; p.R40Q; |
lung | carcinoma; adenocarcinoma |
c.2445A>T; p.P815P; |
lung | carcinoma; adenocarcinoma |
c.1922C>G; p.S641W; 15:25870554-25870554 |
ovary | carcinoma; serous_carcinoma |
c.2497G>T; p.V833L; 15:25674149-25674149 |
ovary | carcinoma; serous_carcinoma |
c.1246C>G; p.R416G; |
lung | carcinoma; squamous_cell_carcinoma |
c.2245-1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.2202G>T; p.L734L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1048G>T; p.V350L; |
lung | carcinoma; squamous_cell_carcinoma |
c.925C>T; p.Q309*; |
ovary | carcinoma; serous_carcinoma |
c.837T>C; p.N279N; |
ovary | carcinoma; serous_carcinoma |
c.1445C>G; p.T482S; 15:25902144-25902144 |
ovary | carcinoma; serous_carcinoma |
c.1177G>T; p.G393C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2446A>T; p.M816L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1888T>G; p.L630V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1574C>T; p.P525L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2026A>G; p.R676G; |
lung | carcinoma; adenocarcinoma |
c.1303G>C; p.V435L; |
lung | carcinoma; adenocarcinoma |
c.1647C>A; p.H549Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.2460C>A; p.S820S; |
lung | carcinoma; adenocarcinoma |
c.1657G>A; p.V553I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1594T>A; p.W532R; |
lung | carcinoma; adenocarcinoma |
c.1299G>T; p.A433A; |
lung | carcinoma; adenocarcinoma |
c.1093G>T; p.A365S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1235T>A; p.V412E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1200A>T; p.I400I; |
lung | carcinoma; adenocarcinoma |
c.174G>T; p.Q58H; |
lung | carcinoma; adenocarcinoma |
c.2383G>T; p.G795W; |
lung | carcinoma; adenocarcinoma |
c.2383G>T; p.G795W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2181G>C; p.L727L; |
lung | carcinoma; adenocarcinoma |
c.1549T>A; p.C517S; |
lung | carcinoma; adenocarcinoma |
c.1644G>T; p.K548N; |
lung | carcinoma; adenocarcinoma |
c.1054A>T; p.R352*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1644G>A; p.K548K; |
lung | carcinoma; squamous_cell_carcinoma |
c.2254C>A; p.L752I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1516G>T; p.A506S; |
lung | carcinoma; squamous_cell_carcinoma |
c.363C>T; p.I121I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1452C>T; p.I484I; |
lung | carcinoma; squamous_cell_carcinoma |
c.48G>T; p.A16A; |
lung | carcinoma; adenocarcinoma |
c.2451G>T; p.M817I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1900A>T; p.I634F; |
lung | carcinoma; adenocarcinoma |
c.1207G>C; p.E403Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2415C>T; p.S805S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1797G>A; p.Q599Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.735G>A; p.G245G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.918C>A; p.A306A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1545G>T; p.G515G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2259G>T; p.L753L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1297G>A; p.A433T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1656C>T; p.H552H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.897G>A; p.T299T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1446T>C; p.T482T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1841delA; p.K614fs*14; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.252G>A; p.M84I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.486G>A; p.P162P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1768C>T; p.L590L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2060C>T; p.A687V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1932T>C; p.P644P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.633G>A; p.P211P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2118A>G; p.E706E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.518G>A; p.R173H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.647-7C>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.517C>T; p.R173C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.332G>A; p.R111Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.45G>A; p.P15P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1261C>T; p.R421W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2104G>T; p.E702*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1932T>G; p.P644P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1673C>A; p.A558D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.344T>C; p.V115A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1005G>A; p.T335T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2422G>T; p.E808*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1934G>A; p.G645D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1391C>T; p.P464L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1453G>A; p.G485R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1349C>T; p.T450M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.804G>C; p.Q268H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2463C>T; p.C821C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1922C>T; p.S641L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1842+2T>G; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2207C>T; p.S736L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2410T>C; p.F804L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1118G>T; p.R373I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.622G>A; p.A208T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2497G>A; p.V833M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1015G>A; p.A339T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2251G>A; p.V751M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.150C>T; p.S50S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2264T>G; p.L755R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1539C>T; p.F513F; |
urinary_tract; bladder | carcinoma |
c.1575G>A; p.P525P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1349C>A; p.T450K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2455G>A; p.V819M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.971G>A; p.R324H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.418C>T; p.L140L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.590A>C; p.Y197S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1135G>A; p.V379M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.264G>A; p.R88R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.499C>T; p.R167C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1714C>T; p.R572C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.292A>G; p.T98A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1228T>C; p.C410R; |
urinary_tract; bladder | carcinoma |
c.500G>A; p.R167H; |
breast | carcinoma |
c.1841delA; p.K614fs*14; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2429delT; p.F810fs*7; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.236C>A; p.S79Y; |
urinary_tract; bladder | carcinoma |
c.47C>T; p.A16V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1446T>C; p.T482T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.344T>C; p.V115A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.362T>C; p.I121T; |
skin; scalp | malignant_melanoma |
c.1012C>T; p.L338F; |
skin | malignant_melanoma |
c.1922C>T; p.S641L; |
skin | malignant_melanoma |
c.1213G>A; p.G405R; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.271G>A; p.D91N; |
skin; scalp | carcinoma; squamous_cell_carcinoma |