Disease table of LECTIN COMPLEMENT ACTIVATION PATHWAY DEFECTS OMIM ID: PS614372

Gene-disease associations table

GeneAssociated with LECTIN COMPLEMENT ACTIVATION PATHWAY DEFECTS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
FCN3OMIMHGNC link1p36.111PS614372
MASP2OMIM, HUMSAVARHGNC link1p36.221PS614372
MBL2ClinVar, OMIMHGNC link10q21.11PS614372

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
1p362FCN3, MASP2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
1p32FCN3, MASP2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1p2FCN3, MASP2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
12FCN3, MASP2
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MASP2MBL2Yes1MASP1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
FCN3MASP2yes, they interactThey are in interaction. [UniProt]
FCN3MBL2No
MASP2MBL2yes, they interactThey are in interaction. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Complement and coagulation cascadeshsa046106.582MBL2, MASP2
Staphylococcus aureus infectionhsa051506.642MBL2, MASP2

NET-GE enrichment

Term New enriched termICP valueGenes
Staphylococcus aureus infection (hsa05150) -6.640.001MBL2, MASP2
Complement and coagulation cascades (hsa04610) -6.580.001MBL2, MASP2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Creation of C4 and C2 activatorsR-HSA-1667865.583MBL2, MASP2, FCN3
Immune SystemR-HSA-1682562.373MBL2, MASP2, FCN3
Innate Immune SystemR-HSA-1682493.173MBL2, MASP2, FCN3
Complement cascadeR-HSA-1666585.383MBL2, MASP2, FCN3
Initial triggering of complementR-HSA-1666635.513MBL2, MASP2, FCN3
Lectin pathway of complement activationR-HSA-16666210.43MBL2, MASP2, FCN3
Ficolins bind to repetitive carbohydrate structures on the target cell surfaceR-HSA-285508610.662MASP2, FCN3

NET-GE enrichment

Term New enriched termICP valueGenes
Creation of C4 and C2 activators (R-HSA-166786) -5.580.0MBL2, MASP2, FCN3
Ficolins bind to repetitive carbohydrate structures on the target cell surface (R-HSA-2855086) -10.660.0MASP2, FCN3
Innate Immune System (R-HSA-168249) -3.170.011MBL2, MASP2, FCN3
Complement cascade (R-HSA-166658) -5.380.0MBL2, MASP2, FCN3
Initial triggering of complement (R-HSA-166663) -5.510.0MBL2, MASP2, FCN3
Lectin pathway of complement activation (R-HSA-166662) -10.40.0MBL2, MASP2, FCN3
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
serine-type endopeptidase activity (GO:0004252) 4.43MBL2, MASP2, FCN3
endopeptidase activity (GO:0004175) 3.633MBL2, MASP2, FCN3
cation binding (GO:0043169) 1.43MBL2, MASP2, FCN3
hydrolase activity (GO:0016787) 1.93MBL2, MASP2, FCN3
serine hydrolase activity (GO:0017171) 4.263MBL2, MASP2, FCN3
ion binding (GO:0043167) 1.363MBL2, MASP2, FCN3
catalytic activity (GO:0003824) 1.053MBL2, MASP2, FCN3
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.263MBL2, MASP2, FCN3
binding (GO:0005488) 0.183MBL2, MASP2, FCN3
protein binding (GO:0005515) 0.463MBL2, MASP2, FCN3
peptidase activity (GO:0008233) 3.233MBL2, MASP2, FCN3
metal ion binding (GO:0046872) 1.413MBL2, MASP2, FCN3
serine-type peptidase activity (GO:0008236) 4.273MBL2, MASP2, FCN3
carbohydrate binding (GO:0030246) 4.172MBL2, FCN3
calcium ion binding (GO:0005509) 3.172MBL2, MASP2
calcium-dependent protein binding (GO:0048306) 5.682MBL2, MASP2

NET-GE enrichment

Term New enriched termICP valueGenes
carbohydrate binding (GO:0030246) -4.170.002MBL2, MASP2, FCN3
calcium-dependent protein binding (GO:0048306) -5.680.001MBL2, MASP2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of response to stimulus (GO:0048584) 2.183MBL2, MASP2, FCN3
regulation of response to stimulus (GO:0048583) 1.543MBL2, MASP2, FCN3
biological regulation (GO:0065007) 0.393MBL2, MASP2, FCN3
regulation of biological process (GO:0050789) 0.453MBL2, MASP2, FCN3
protein activation cascade (GO:0072376) 5.213MBL2, MASP2, FCN3
organic substance metabolic process (GO:0071704) 0.633MBL2, MASP2, FCN3
positive regulation of immune system process (GO:0002684) 2.963MBL2, MASP2, FCN3
regulation of immune system process (GO:0002682) 2.53MBL2, MASP2, FCN3
positive regulation of biological process (GO:0048518) 1.23MBL2, MASP2, FCN3
proteolysis (GO:0006508) 2.733MBL2, MASP2, FCN3
innate immune response (GO:0045087) 3.553MBL2, MASP2, FCN3
immune effector process (GO:0002252) 3.583MBL2, MASP2, FCN3
defense response (GO:0006952) 2.783MBL2, MASP2, FCN3
response to stress (GO:0006950) 1.83MBL2, MASP2, FCN3
complement activation (GO:0006956) 5.493MBL2, MASP2, FCN3
metabolic process (GO:0008152) 0.583MBL2, MASP2, FCN3
immune response (GO:0006955) 2.863MBL2, MASP2, FCN3
humoral immune response (GO:0006959) 4.593MBL2, MASP2, FCN3
primary metabolic process (GO:0044238) 0.693MBL2, MASP2, FCN3
regulation of immune response (GO:0050776) 2.983MBL2, MASP2, FCN3
protein metabolic process (GO:0019538) 1.453MBL2, MASP2, FCN3
response to stimulus (GO:0050896) 1.223MBL2, MASP2, FCN3
positive regulation of immune response (GO:0050778) 3.43MBL2, MASP2, FCN3
macromolecule metabolic process (GO:0043170) 0.833MBL2, MASP2, FCN3
immune system process (GO:0002376) 2.293MBL2, MASP2, FCN3
activation of immune response (GO:0002253) 3.673MBL2, MASP2, FCN3
complement activation, lectin pathway (GO:0001867) 7.783MBL2, MASP2, FCN3
response to biotic stimulus (GO:0009607) 3.092MBL2, FCN3
response to external stimulus (GO:0009605) 2.552MBL2, FCN3
response to external biotic stimulus (GO:0043207) 3.132MBL2, FCN3
regulation of viral process (GO:0050792) 3.892MBL2, FCN3
regulation of cellular process (GO:0050794) 0.52MBL2, FCN3
interspecies interaction between organisms (GO:0044419) 3.082MBL2, FCN3
regulation of symbiosis, encompassing mutualism through parasitism (GO:0043903) 3.822MBL2, FCN3
regulation of multi-organism process (GO:0043900) 3.62MBL2, FCN3
negative regulation of multi-organism process (GO:0043901) 4.72MBL2, FCN3
defense response to other organism (GO:0098542) 3.752MBL2, FCN3
negative regulation of viral process (GO:0048525) 5.072MBL2, FCN3
negative regulation of biological process (GO:0048519) 1.332MBL2, FCN3
complement activation, classical pathway (GO:0006958) 5.742MBL2, MASP2
response to other organism (GO:0051707) 3.482MBL2, FCN3
negative regulation of cellular process (GO:0048523) 1.412MBL2, FCN3
multi-organism process (GO:0051704) 2.652MBL2, FCN3

NET-GE enrichment

Term New enriched termICP valueGenes
positive regulation of phagocytosis (GO:0050766) NEW5.90.009MBL2, MASP2
regulation of phagocytosis (GO:0050764) NEW5.490.02MBL2, MASP2
regulation of immune response (GO:0050776) -2.980.011MBL2, MASP2, FCN3
protein activation cascade (GO:0072376) -5.210.0MBL2, MASP2, FCN3
innate immune response (GO:0045087) -3.550.006MBL2, MASP2, FCN3
immune response (GO:0006955) -2.860.022MBL2, MASP2, FCN3
positive regulation of immune response (GO:0050778) -3.40.041MBL2, MASP2, FCN3
regulation of immune system process (GO:0002682) -2.50.031MBL2, MASP2, FCN3
defense response (GO:0006952) -2.780.03MBL2, MASP2, FCN3
positive regulation of immune system process (GO:0002684) -2.960.008MBL2, MASP2, FCN3
complement activation, lectin pathway (GO:0001867) -7.780.0MBL2, MASP2, FCN3
activation of immune response (GO:0002253) -3.670.019MBL2, MASP2, FCN3
immune effector process (GO:0002252) -3.580.002MBL2, MASP2, FCN3
opsonization (GO:0008228) NEW7.650.0MBL2, MASP2
complement activation (GO:0006956) -5.490.0MBL2, MASP2, FCN3
complement activation, classical pathway (GO:0006958) -5.740.037MBL2, MASP2
humoral immune response (GO:0006959) -4.590.0MBL2, MASP2, FCN3
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular region (GO:0005576) 2.183MBL2, MASP2, FCN3
extracellular region part (GO:0044421) 1.573MBL2, MASP2, FCN3
protein complex (GO:0043234) 1.512MBL2, FCN3
macromolecular complex (GO:0032991) 1.352MBL2, FCN3
collagen trimer (GO:0005581) 5.212MBL2, FCN3

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular region (GO:0005576) -2.180.01MBL2, MASP2, FCN3
collagen trimer (GO:0005581) -5.210.005MBL2, FCN3
blood microparticle (GO:0072562) NEW4.880.024MASP2, FCN3