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Aliases for COLEC11 Gene

Aliases for COLEC11 Gene

  • Collectin Sub-Family Member 11 2 3
  • Collectin Kidney Protein 1 3 4
  • Collectin K1 2 3
  • CL-K1-IIa 3
  • CL-K1-IIb 3
  • CL-K1-II 3
  • CL-K1-I 3
  • CL-K1 4
  • 3MC2 3
  • CLK1 3

External Ids for COLEC11 Gene

Previous GeneCards Identifiers for COLEC11 Gene

  • GC00U991131
  • GC02P003285
  • GC02P003207
  • GC02P003136
  • GC02P003620
  • GC02P003642
  • GC02P003583

Summaries for COLEC11 Gene

Entrez Gene Summary for COLEC11 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 carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for COLEC11 Gene

COLEC11 (Collectin Sub-Family Member 11) is a Protein Coding gene. Diseases associated with COLEC11 include 3mc syndrome 2 and carnevale syndrome. Among its related pathways are Vesicle-mediated transport and Legionellosis. GO annotations related to this gene include mannose binding. An important paralog of this gene is MBL2.

UniProtKB/Swiss-Prot for COLEC11 Gene

  • Lectin that binds to various sugars including fucose and mannose. Has a higher affinity for fucose compared to mannose. Does not bind to glucose, N-acetylglucosamine and N-acetylgalactosamine. Also binds lipopolysaccharides (LPS). Involved in fundamental development serving as a guidance cue for neural crest cell migration (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COLEC11 Gene

Genomics for COLEC11 Gene

Regulatory Elements for COLEC11 Gene

Genomic Location for COLEC11 Gene

Chromosome:
2
Start:
3,594,832 bp from pter
End:
3,644,644 bp from pter
Size:
49,813 bases
Orientation:
Plus strand

Genomic View for COLEC11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COLEC11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COLEC11 Gene

Proteins for COLEC11 Gene

  • Protein details for COLEC11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWP8-COL11_HUMAN
    Recommended name:
    Collectin-11
    Protein Accession:
    Q9BWP8
    Secondary Accessions:
    • A1IGE4
    • A1IGE5
    • A1IGE6
    • A7VJJ2
    • A7VJJ3
    • A7VJJ4
    • A7VJJ5
    • B2R9M5
    • B4E1G0
    • J3KQY9
    • Q5CZ85
    • Q7Z6N1

    Protein attributes for COLEC11 Gene

    Size:
    271 amino acids
    Molecular mass:
    28665 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for COLEC11 Gene

    Alternative splice isoforms for COLEC11 Gene

neXtProt entry for COLEC11 Gene

Proteomics data for COLEC11 Gene at MOPED

Post-translational modifications for COLEC11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for COLEC11 Gene

Domains & Families for COLEC11 Gene

Gene Families for COLEC11 Gene

Suggested Antigen Peptide Sequences for COLEC11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BWP8

UniProtKB/Swiss-Prot:

COL11_HUMAN :
  • Contains 1 C-type lectin domain.
  • Belongs to the COLEC10/COLEC11 family.
Domain:
  • Contains 1 C-type lectin domain.
  • Contains 1 collagen-like domain.
Family:
  • Belongs to the COLEC10/COLEC11 family.
genes like me logo Genes that share domains with COLEC11: view

Function for COLEC11 Gene

Molecular function for COLEC11 Gene

UniProtKB/Swiss-Prot Function:
Lectin that binds to various sugars including fucose and mannose. Has a higher affinity for fucose compared to mannose. Does not bind to glucose, N-acetylglucosamine and N-acetylgalactosamine. Also binds lipopolysaccharides (LPS). Involved in fundamental development serving as a guidance cue for neural crest cell migration (By similarity).

Gene Ontology (GO) - Molecular Function for COLEC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005537 mannose binding IEA --
genes like me logo Genes that share ontologies with COLEC11: view

Phenotypes for COLEC11 Gene

GenomeRNAi human phenotypes for COLEC11:
genes like me logo Genes that share phenotypes with COLEC11: view

Animal Model Products

CRISPR Products

miRNA for COLEC11 Gene

miRTarBase miRNAs that target COLEC11

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COLEC11

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COLEC11 Gene

Localization for COLEC11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COLEC11 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COLEC11 Gene COMPARTMENTS Subcellular localization image for COLEC11 gene
Compartment Confidence
extracellular 4
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for COLEC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
genes like me logo Genes that share ontologies with COLEC11: view

Pathways & Interactions for COLEC11 Gene

genes like me logo Genes that share pathways with COLEC11: view

Pathways by source for COLEC11 Gene

2 KEGG pathways for COLEC11 Gene

Interacting Proteins for COLEC11 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000339168%0d%0a9606.ENSP00000296280%0d%0a
Selected Interacting proteins: ENSP00000339168 for COLEC11 Gene via STRING

Symbol External ID(s) Details
MASP1

Gene Ontology (GO) - Biological Process for COLEC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS --
GO:0007275 multicellular organismal development IEA --
GO:0032502 developmental process ISS --
genes like me logo Genes that share ontologies with COLEC11: view

No data available for SIGNOR curated interactions for COLEC11 Gene

Drugs & Compounds for COLEC11 Gene

No Compound Related Data Available

Transcripts for COLEC11 Gene

Unigene Clusters for COLEC11 Gene

Collectin sub-family member 11:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COLEC11

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COLEC11 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - -
SP3:

Relevant External Links for COLEC11 Gene

GeneLoc Exon Structure for
COLEC11
ECgene alternative splicing isoforms for
COLEC11

Expression for COLEC11 Gene

mRNA expression in normal human tissues for COLEC11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COLEC11 Gene

This gene is overexpressed in Liver (x16.2), Ovary (x6.3), Heart - Atrial Appendage (x5.5), and Adrenal Gland (x4.3).

Protein differential expression in normal tissues from HIPED for COLEC11 Gene

This gene is overexpressed in Serum (57.6) and Plasma (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COLEC11 Gene



SOURCE GeneReport for Unigene cluster for COLEC11 Gene Hs.32603

mRNA Expression by UniProt/SwissProt for COLEC11 Gene

Q9BWP8-COL11_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with COLEC11: view

Protein tissue co-expression partners for COLEC11 Gene

Primer Products

In Situ Assay Products

Orthologs for COLEC11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COLEC11 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COLEC11 35
  • 85.02 (n)
  • 86.14 (a)
COLEC11 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COLEC11 35
  • 88.85 (n)
  • 87.59 (a)
COLEC11 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Colec11 35
  • 86.96 (n)
  • 91.88 (a)
Colec11 16
Colec11 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COLEC11 35
  • 98.48 (n)
  • 98.95 (a)
COLEC11 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Colec11 35
  • 86.22 (n)
  • 90.77 (a)
oppossum
(Monodelphis domestica)
Mammalia COLEC11 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COLEC11 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves COLEC11 35
  • 77.61 (n)
  • 82.66 (a)
COLEC11 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COLEC11 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia colec11 35
  • 71.59 (n)
  • 76.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia colec11-prov 35
zebrafish
(Danio rerio)
Actinopterygii colec11 35
  • 69 (n)
  • 69 (a)
colec11 36
  • 68 (a)
OneToOne
Species with no ortholog for COLEC11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COLEC11 Gene

ENSEMBL:
Gene Tree for COLEC11 (if available)
TreeFam:
Gene Tree for COLEC11 (if available)

Paralogs for COLEC11 Gene

Paralogs for COLEC11 Gene

(10) SIMAP similar genes for COLEC11 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with COLEC11: view

Variants for COLEC11 Gene

Sequence variations from dbSNP and Humsavar for COLEC11 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs731034 -- 3,629,432(-) TGGTC(A/G)GCACC intron-variant
rs734602 -- 3,599,172(+) tgtga(C/T)GAGTG intron-variant
rs744577 -- 3,629,533(-) tacat(A/G)caact intron-variant
rs744578 -- 3,629,501(-) TGCAC(A/G)TGTGT intron-variant
rs934292 -- 3,644,908(-) TGGGA(C/G)GTAAT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for COLEC11 Gene

Variant ID Type Subtype PubMed ID
nsv873590 CNV Loss 21882294
nsv873591 CNV Gain 21882294
nsv468950 CNV Loss 19166990
nsv818922 CNV Gain 17921354
esv1749783 CNV Insertion 17803354
nsv468961 CNV Gain 19166990
dgv4043n71 CNV Gain 21882294
esv2719523 CNV Deletion 23290073
nsv214922 CNV Insertion 16902084

Variation tolerance for COLEC11 Gene

Residual Variation Intolerance Score: 66.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.72; 78.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COLEC11 Gene

HapMap Linkage Disequilibrium report
COLEC11
Human Gene Mutation Database (HGMD)
COLEC11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COLEC11 Gene

Disorders for COLEC11 Gene

MalaCards: The human disease database

(4) MalaCards diseases for COLEC11 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3mc syndrome 2
  • carnevale syndrome
carnevale syndrome
  • carnevale krajewska fischetto syndrome
3mc syndrome
  • oculopalatoskeletal syndrome
learning disability
  • learning disorder
- elite association

UniProtKB/Swiss-Prot

COL11_HUMAN
  • 3MC syndrome 2 (3MC2) [MIM:265050]: A disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. {ECO:0000269 PubMed:21258343}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COLEC11

Genetic Association Database (GAD)
COLEC11
Human Genome Epidemiology (HuGE) Navigator
COLEC11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COLEC11
genes like me logo Genes that share disorders with COLEC11: view

No data available for Genatlas for COLEC11 Gene

Publications for COLEC11 Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  2. Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. (PMID: 25912189) Venkatraman Girija U. … Wallis R. (BMC Biol. 2015) 67
  3. Elevated plasma CL-K1 level is associated with a risk of developing disseminated intravascular coagulation (DIC). (PMID: 24474086) Takahashi K. … Wakamiya N. (J. Thromb. Thrombolysis 2014) 67
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67
  5. Heteromeric complexes of native collectin kidney 1 and collectin liver 1 are found in the circulation with MASPs and activate the complement system. (PMID: 24174618) Henriksen M.L. … Hansen S. (J. Immunol. 2013) 67

Products for COLEC11 Gene

Sources for COLEC11 Gene

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