| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4124 |
Name | MAN2A1 |
Synonymous | GOLIM7|MANA2|MANII;mannosidase, alpha, class 2A, member 1;MAN2A1;mannosidase, alpha, class 2A, member 1 |
Definition | AMan II|Golgi alpha-mannosidase II|alpha-mannosidase 2|golgi integral membrane protein 7|man II|mannosidase, alpha type II|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase |
Position | 5q21-q22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MAN2A1 | ||
PCGP somatic mutation [Top] | ||
There is no record for MAN2A1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.540G>A; p.W180*; |
lung | carcinoma; small_cell_carcinoma |
c.3013C>T; p.L1005F; |
NS | malignant_melanoma |
c.3013C>T; p.L1005F; |
NS | malignant_melanoma |
c.356C>T; p.A119V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.478G>T; p.E160*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3105C>A; p.F1035L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3160A>G; p.I1054V; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.988delT; p.W332fs*17; |
liver | carcinoma |
c.1721G>A; p.G574E; 5:109148487-109148487 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.932T>A; p.I311N; |
prostate | carcinoma; adenocarcinoma |
c.3026_3028delCTT; p.S1011delS; |
oesophagus | carcinoma; adenocarcinoma |
c.751G>A; p.V251I; |
oesophagus | carcinoma; adenocarcinoma |
c.954_955insA; p.H321fs*6; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2303G>A; p.R768Q; |
oesophagus | carcinoma; adenocarcinoma |
c.3072C>G; p.F1024L; |
oesophagus | carcinoma; adenocarcinoma |
c.2180A>G; p.N727S; |
lung | carcinoma; squamous_cell_carcinoma |
c.3170A>T; p.K1057M; |
lung | carcinoma; adenocarcinoma |
c.1603G>T; p.A535S; |
liver | carcinoma |
c.1319A>G; p.K440R; |
liver | carcinoma |
c.3173T>C; p.V1058A; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1956C>G; p.V652V; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1319A>G; p.K440R; |
liver | carcinoma |
c.2114C>T; p.S705F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3126G>T; p.L1042F; |
lung | carcinoma; adenocarcinoma |
c.1647A>T; p.S549S; |
lung | carcinoma; adenocarcinoma |
c.2575G>T; p.G859*; |
lung | carcinoma; adenocarcinoma |
c.2247G>C; p.K749N; |
lung | carcinoma; adenocarcinoma |
c.1354C>T; p.Q452*; |
lung | carcinoma; adenocarcinoma |
c.1979G>A; p.R660Q; |
lung | carcinoma; adenocarcinoma |
c.852C>T; p.S284S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1243C>T; p.R415C; |
skin; extremity | malignant_melanoma |
c.2560A>T; p.I854L; |
autonomic_ganglia | neuroblastoma |
c.901C>T; p.L301L; |
autonomic_ganglia | neuroblastoma |
c.38C>T; p.A13V; |
ovary | carcinoma; serous_carcinoma |
c.2988G>A; p.K996K; |
breast | carcinoma |
c.3363C>T; p.P1121P; |
pancreas | NS |
c.2533G>T; p.V845F; |
lung | carcinoma; small_cell_carcinoma |
c.1565A>G; p.E522G; |
central_nervous_system; cerebrum | glioma; astrocytoma_Grade_IV |
c.3028T>A; p.S1010T; 5:109218791-109218791 |
ovary | carcinoma; serous_carcinoma |
c.1652C>T; p.S551L; |
ovary | carcinoma; serous_carcinoma |
c.954T>C; p.V318V; |
ovary | carcinoma; serous_carcinoma |
c.854G>T; p.G285V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1161C>T; p.P387P; |
lung | carcinoma; squamous_cell_carcinoma |
c.2231G>C; p.G744A; |
lung | carcinoma; squamous_cell_carcinoma |
c.3086T>C; p.L1029P; |
lung | carcinoma; squamous_cell_carcinoma |
c.2821G>T; p.G941W; |
lung | carcinoma; squamous_cell_carcinoma |
c.1452G>C; p.S484S; |
lung | carcinoma; adenocarcinoma |
c.769A>G; p.T257A; |
lung | carcinoma; adenocarcinoma |
c.2870G>A; p.R957K; |
lung | carcinoma; adenocarcinoma |
c.1848T>G; p.S616S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.668G>T; p.W223L; |
lung | carcinoma; adenocarcinoma |
c.505T>C; p.F169L; |
lung | carcinoma; adenocarcinoma |
c.2687T>G; p.L896R; |
lung | carcinoma; adenocarcinoma |
c.2746G>T; p.V916F; |
lung | carcinoma; squamous_cell_carcinoma |
c.2225A>G; p.D742G; |
lung | carcinoma; adenocarcinoma |
c.496C>T; p.L166F; |
lung | carcinoma; adenocarcinoma |
c.2811T>G; p.A937A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.750G>T; p.W250C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.35G>T; p.S12I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2308G>T; p.D770Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2194G>A; p.D732N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.228C>T; p.V76V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2823G>T; p.G941G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2993C>T; p.S998L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1398delT; p.F468fs*22; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.813T>C; p.H271H; |
breast | carcinoma |
c.1664C>T; p.A555V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2471C>T; p.P824L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1020T>G; p.S340S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1923A>G; p.I641M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1475A>T; p.D492V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1603G>A; p.A535T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1949T>A; p.L650H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1100G>A; p.C367Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.622C>T; p.R208W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1398delT; p.F468fs*22; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1709A>T; p.D570V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.227T>A; p.V76D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3232C>T; p.R1078W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2425C>A; p.L809I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2302C>T; p.R768W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.179G>A; p.R60H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1031T>G; p.I344S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1320G>T; p.K440N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1149C>A; p.P383P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2646T>G; p.I882M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2302C>T; p.R768W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1964C>A; p.P655H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2652T>G; p.S884S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3373A>G; p.N1125D; |
breast | carcinoma |
c.3191A>G; p.N1064S; |
breast | carcinoma |
c.2941C>T; p.R981*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.984G>A; p.L328L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2351G>A; p.G784D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1760+2T>C; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1772C>T; p.S591L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1202G>A; p.R401Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1230G>C; p.K410N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2065G>A; p.A689T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2993C>T; p.S998L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2302C>T; p.R768W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1411C>T; p.L471L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1513A>G; p.S505G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2935C>T; p.L979L; |
breast | carcinoma |
c.1956C>T; p.V652V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3072C>A; p.F1024L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2269G>T; p.G757C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1591C>A; p.L531I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1642C>A; p.L548I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3121T>G; p.S1041A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13C>A; p.R5S; |
urinary_tract; bladder | carcinoma |
c.1772C>T; p.S591L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2847G>C; p.Q949H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3074C>T; p.S1025F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3060G>A; p.M1020I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1722A>G; p.G574G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1402T>G; p.F468V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2775C>A; p.I925I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1642C>A; p.L548I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.861T>C; p.A287A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.746G>T; p.G249V; |
breast | carcinoma |
c.3370C>T; p.Q1124*; |
urinary_tract; bladder | carcinoma |
c.1722A>G; p.G574G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1720G>T; p.G574*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1722A>G; p.G574G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.98A>G; p.Y33C; |
urinary_tract; bladder | carcinoma |
c.45C>G; p.F15L; |
urinary_tract; bladder | carcinoma |
c.908G>A; p.R303H; |
prostate | carcinoma |
c.1985C>T; p.S662L; |
skin | malignant_melanoma |
c.2881G>C; p.D961H; |
skin | malignant_melanoma |
c.1768C>T; p.H590Y; |
skin; neck | malignant_melanoma |
c.2790T>G; p.H930Q; |
skin | malignant_melanoma |
c.1772C>T; p.S591L; |
skin; mucosal | malignant_melanoma |
c.1334T>G; p.L445R; |
skin; mucosal | malignant_melanoma |
c.158delA; p.I55fs*1; |
stomach | adenocarcinoma |
c.880T>C; p.S294P; |
stomach | adenocarcinoma |