COLEC10 (collectin subfamily member 10)

2014-11-01  

Identity

HGNC
LOCATION
8q24.12
LOCUSID
ALIAS
3MC3,CL-10,CL-34,CLL1
FUSION GENES

Other Information

Locus ID:

NCBI: 10584
MIM: 607620
HGNC: 2220
Ensembl: ENSG00000184374

Variants:

dbSNP: 10584
ClinVar: 10584
TCGA: ENSG00000184374
COSMIC: COLEC10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184374ENST00000332843Q9Y6Z7
ENSG00000184374ENST00000332843A0A024R9J3

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663

References

Pubmed IDYearTitleCitations
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
283014812017COLEC10 is mutated in 3MC patients and regulates early craniofacial development.13
261545642015Collectin liver 1 and collectin kidney 1 and other complement-associated pattern recognition molecules in systemic lupus erythematosus.9
257108782015Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1).8
301085872018CL-L1 and CL-K1 Exhibit Widespread Tissue Distribution With High and Co-Localized Expression in Secretory Epithelia and Mucosa.4
273417022017Collectin Liver 1 and Collectin Kidney 1 of the Lectin Complement Pathway Are Associated With Mortality After Kidney Transplantation.2
270577392016The pattern recognition molecule collectin-L1 in critically ill children.1

Citation

Dessen P

COLEC10 (collectin subfamily member 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62005/colec10