| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4153 |
Name | MBL2 |
Synonymous | COLEC1|HSMBPC|MBL|MBL2D|MBP|MBP-C|MBP1;mannose-binding lectin (protein C) 2, soluble;MBL2;mannose-binding lectin (protein C) 2, soluble |
Definition | collectin-1|mannan-binding lectin|mannose-binding lectin (protein C) 2, soluble (opsonic defect)|mannose-binding lectin 2, soluble (opsonic defect)|mannose-binding protein C |
Position | 10q11.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MBL2 | ||
PCGP somatic mutation [Top] | ||
There is no record for MBL2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.518C>G; p.A173G; |
liver | carcinoma; hepatocellular_carcinoma |
c.30_32delTCT; p.L12delL; |
liver | carcinoma; hepatocellular_carcinoma |
c.536A>G; p.K179R; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.634G>A; p.E212K; |
NS | malignant_melanoma |
c.634G>A; p.E212K; |
NS | malignant_melanoma |
c.700G>A; p.V234I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.152G>A; p.G51E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.50C>T; p.A17V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.340G>T; p.A114S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.556A>C; p.I186L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.144C>A; p.G48G; 10:54201258-54201258 |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.562G>A; p.D188N; |
oesophagus | carcinoma; adenocarcinoma |
c.193G>T; p.G65W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.32T>G; p.L11R; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.181G>A; p.E61K; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.27C>A; p.L9L; |
lung | carcinoma; adenocarcinoma |
c.560C>A; p.T187N; |
lung | carcinoma; adenocarcinoma |
c.494C>T; p.P165L; |
lung | carcinoma; adenocarcinoma |
c.273G>T; p.K91N; |
lung | carcinoma; adenocarcinoma |
c.217C>A; p.P73T; |
lung | carcinoma; adenocarcinoma |
c.739C>A; p.P247T; |
lung | carcinoma; adenocarcinoma |
c.320_321insT; p.A108fs*37; |
lung | carcinoma; adenocarcinoma |
c.228G>A; p.L76L; |
lung | carcinoma; adenocarcinoma |
c.423C>A; p.T141T; |
lung | carcinoma; adenocarcinoma |
c.357G>A; p.M119I; |
breast | carcinoma |
c.627C>T; p.N209N; |
prostate | carcinoma |
c.424A>G; p.N142D; |
lung | carcinoma; small_cell_carcinoma |
c.540G>A; p.E180E; |
lung | carcinoma; small_cell_carcinoma |
c.515G>A; p.G172E; |
lung | carcinoma; squamous_cell_carcinoma |
c.61G>T; p.E21*; |
lung | carcinoma; squamous_cell_carcinoma |
c.350C>T; p.T117I; |
lung | carcinoma; squamous_cell_carcinoma |
c.144C>A; p.G48G; 10:54201258-54201258 |
ovary | carcinoma; serous_carcinoma |
c.724G>A; p.A242T; |
ovary | carcinoma; serous_carcinoma |
c.319C>A; p.L107M; |
lung | carcinoma; squamous_cell_carcinoma |
c.721C>T; p.L241L; |
lung | carcinoma; adenocarcinoma |
c.430G>A; p.E144K; |
lung | carcinoma; adenocarcinoma |
c.71C>A; p.T24N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.375G>A; p.W125*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.109G>T; p.A37S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.157G>T; p.D53Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.650G>A; p.G217D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.495C>A; p.P165P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.510G>T; p.E170D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.378C>G; p.L126L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.686G>A; p.G229D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.361C>T; p.R121C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.302C>T; p.P101L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.417C>T; p.F139F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.616A>C; p.T206P; |
breast | carcinoma |
c.132C>T; p.N44N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.482C>A; p.S161Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.380C>T; p.T127I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.358G>A; p.A120T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.687C>G; p.G229G; |
prostate | carcinoma |
c.623G>A; p.W208*; |
skin; scalp | carcinoma; squamous_cell_carcinoma |