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Aliases for COLEC11 Gene

Aliases for COLEC11 Gene

  • Collectin Subfamily Member 11 2 3 5
  • Collectin Kidney Protein 1 3 4
  • Collectin K1 2 3
  • Collectin Sub-Family Member 11 3
  • Collectin-11 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 Subfamily Member 11) is a Protein Coding gene. Diseases associated with COLEC11 include 3Mc Syndrome 2 and Learning Disability. Among its related pathways are Vesicle-mediated transport and Binding and Uptake of Ligands by Scavenger Receptors. GO annotations related to this gene include mannose binding. An important paralog of this gene is COLEC10.

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

Enhancers for COLEC11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around COLEC11 on UCSC Golden Path with GeneCards custom track

Promoters for COLEC11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COLEC11 on UCSC Golden Path with GeneCards custom track

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

Genes around COLEC11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COLEC11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for COLEC11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0004252 serine-type endopeptidase activity TAS --
GO:0005537 mannose binding IEA --
genes like me logo Genes that share ontologies with COLEC11: view
genes like me logo Genes that share phenotypes with COLEC11: view

Human Phenotype Ontology for COLEC11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for COLEC11

CRISPR Products

miRNA for COLEC11 Gene

miRTarBase miRNAs that target COLEC11

Inhibitory RNA Products

Clone 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 5
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

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 Q9BWP8-COL11_HUMAN for COLEC11 Gene via STRING IID

Gene Ontology (GO) - Biological Process for COLEC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006956 complement activation TAS --
GO:0007275 multicellular organism 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

Inhibitory RNA Products

Clone Products

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 and MOPED for COLEC11 Gene



Protein tissue co-expression partners for COLEC11 Gene

NURSA nuclear receptor signaling pathways regulating expression of COLEC11 Gene:

COLEC11

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

Primer 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 34
  • 85.02 (n)
  • 86.14 (a)
COLEC11 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COLEC11 34
  • 88.85 (n)
  • 87.59 (a)
COLEC11 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Colec11 34
  • 86.96 (n)
  • 91.88 (a)
Colec11 16
Colec11 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COLEC11 34
  • 98.48 (n)
  • 98.95 (a)
COLEC11 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Colec11 34
  • 86.22 (n)
  • 90.77 (a)
oppossum
(Monodelphis domestica)
Mammalia COLEC11 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COLEC11 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves COLEC11 34
  • 77.61 (n)
  • 82.66 (a)
COLEC11 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COLEC11 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia colec11 34
  • 71.59 (n)
  • 76.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia colec11-prov 34
zebrafish
(Danio rerio)
Actinopterygii colec11 34
  • 69 (n)
  • 69 (a)
colec11 35
  • 68 (a)
OneToOne
Species where no ortholog for COLEC11 was found in the sources mined by GeneCards:
  • 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
rs7567833 - 3,643,958(+) TGACC(A/G)CTCCC nc-transcript-variant, reference, missense
rs387907075 3MC syndrome 2 (3MC2) 3,643,807(+) AGCTG(C/T)CCTGC nc-transcript-variant, reference, missense
rs387907076 3MC syndrome 2 (3MC2) 3,643,912(+) TCATC(A/G)GCATC nc-transcript-variant, reference, missense
rs1367275 -- 3,614,412(+) CATAC(A/G)CTGTT intron-variant
rs1367276 -- 3,614,470(+) ATTAC(C/T)GTGCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3702n100 CNV gain 25217958
dgv6663n54 CNV loss 21841781
esv1749783 CNV insertion 17803354
esv2719523 CNV deletion 23290073
nsv1013223 CNV gain 25217958
nsv1071568 CNV deletion 25765185
nsv1071965 CNV deletion 25765185
nsv1072913 CNV deletion 25765185
nsv1118849 CNV deletion 24896259
nsv1130745 CNV deletion 24896259
nsv1138743 CNV deletion 24896259
nsv214922 CNV insertion 16902084
nsv468950 CNV loss 19166990
nsv468961 CNV gain 19166990
nsv580822 CNV gain 21841781
nsv580825 CNV gain 21841781
nsv818922 CNV gain 17921354
nsv963207 CNV duplication 23825009

Variation tolerance for COLEC11 Gene

Residual Variation Intolerance Score: 66.8% 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

Human Gene Mutation Database (HGMD)
COLEC11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COLEC11

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

Disorders for COLEC11 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
3mc syndrome 2
  • carnevale syndrome
learning disability
  • academic skill disorder
- elite association - COSMIC cancer census association via MalaCards

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. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. (PMID: 21258343) Rooryck C. … Beales P.L. (Nat. Genet. 2011) 3 4 65
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 65
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 65
  4. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2009) 3 46 65
  5. Identification and characterization of a novel human collectin CL- K1. (PMID: 17179669) Keshi H. … Wakamiya N. (Microbiol. Immunol. 2006) 3 4 65

Products for COLEC11 Gene

Sources for COLEC11 Gene

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