COLEC11 (collectin subfamily member 11)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
78989
Gene name Gene Name - the full gene name approved by the HGNC.
Collectin subfamily member 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COLEC11
Synonyms (NCBI Gene) Gene synonyms aliases
3MC2, CL-11, CL-K1-I, CL-K1-II, CL-K1-IIa, CL-K1-IIb, CLK1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
3MC2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydra
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1572389284 C>- Pathogenic Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT1920362 hsa-miR-3065-3p CLIP-seq
MIRT1920363 hsa-miR-3919 CLIP-seq
MIRT1920364 hsa-miR-4756-3p CLIP-seq
MIRT1920365 hsa-miR-4778-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0001867 Process Complement activation, lectin pathway IMP 25912189
GO:0001867 Process Complement activation, lectin pathway TAS
GO:0003677 Function DNA binding IDA 20956340, 23954398
GO:0005509 Function Calcium ion binding IDA 25912189
GO:0005515 Function Protein binding IPI 20956340
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612502 17213 ENSG00000118004
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BWP8
Protein name Collectin-11 (Collectin kidney protein 1) (CL-K1)
Protein function Lectin that plays a role in innate immunity, apoptosis and embryogenesis (PubMed:21258343, PubMed:23954398, PubMed:25912189). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at le
PDB 4YLI , 4YMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 21 → 93 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 62 → 116 Collagen triple helix repeat (20 copies) Repeat
PF00059 Lectin_C 159 → 266 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous (PubMed:17179669). Detected in adrenal gland, kidney, liver, ovaries and testis (at protein level) (PubMed:20956340). {ECO:0000269|PubMed:17179669, ECO:0000269|PubMed:20956340}.
Sequence
Sequence length 271
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Phagosome   Lectin pathway of complement activation
Initial triggering of complement
Scavenging by Class A Receptors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
3mc syndrome Oculopalatoskeletal syndrome, 3MC syndrome, Carnevale syndrome rs386833492, rs104893924, rs387906752, rs387906753, rs387906754, rs533236263, rs763360042, rs387907075, rs1572389284, rs387907076, rs2147483647, rs149010496, rs1060505022, rs773764995, rs1560255926
View all (1 more)		 21258343, 28301481, 2569826, 25912189
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism Cryptorchidism, Bilateral Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
3MC syndrome 3MC syndrome 2, 3MC syndrome GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Coronary artery disease Coronary artery disease GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33728331
Autoimmune Diseases Stimulate 34539672
Autoimmune Diseases of the Nervous System Associate 30286468
Colorectal Neoplasms Associate 37691929
COVID 19 Associate 33584662, 35511137
Diabetic Nephropathies Associate 31537649
Fibrosis Associate 34615657
Frontotemporal Dementia Associate 34539672
Glomerulonephritis IGA Associate 34615657
Kidney Diseases Associate 34615657