COLEC11 (collectin subfamily member 11)

2014-11-01  

Identity

HGNC
LOCATION
2p25.3
LOCUSID
ALIAS
3MC2,CL-11,CL-K1-I,CL-K1-II,CL-K1-IIa,CL-K1-IIb,CLK1
FUSION GENES

Other Information

Locus ID:

NCBI: 78989
MIM: 612502
HGNC: 17213
Ensembl: ENSG00000118004

Variants:

dbSNP: 78989
ClinVar: 78989
TCGA: ENSG00000118004
COSMIC: COLEC11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118004ENST00000236693Q9BWP8
ENSG00000118004ENST00000349077Q9BWP8
ENSG00000118004ENST00000382062Q9BWP8
ENSG00000118004ENST00000402794Q9BWP8
ENSG00000118004ENST00000402922Q9BWP8
ENSG00000118004ENST00000403096Q9BWP8
ENSG00000118004ENST00000404205Q9BWP8
ENSG00000118004ENST00000416132F8WB29
ENSG00000118004ENST00000418971Q9BWP8
ENSG00000118004ENST00000438814C9JWT5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
212583432011Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.72
209563402010Collectin 11 (CL-11, CL-K1) is a MASP-1/3-associated plasma collectin with microbial-binding activity.60
232209462013Collectin-11/MASP complex formation triggers activation of the lectin complement pathway--the fifth lectin pathway initiation complex.36
241746182013Heteromeric complexes of native collectin kidney 1 and collectin liver 1 are found in the circulation with MASPs and activate the complement system.34
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
259121892015Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.19
218935162012Comparison of human blood concentrations of collectin kidney 1 and mannan-binding lectin.16
239543982013Characterization of the interaction between collectin 11 (CL-11, CL-K1) and nucleic acids.16
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
244740862014Elevated plasma CL-K1 level is associated with a risk of developing disseminated intravascular coagulation (DIC).11

Citation

Dessen P

COLEC11 (collectin subfamily member 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62006/colec11