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 ... See more...

Aliases for COLEC11 Gene

Aliases for COLEC11 Gene

  • Collectin Subfamily Member 11 2 3 5
  • Collectin Kidney Protein 1 3 4
  • Collectin-11 3 4
  • Collectin K1 2 3
  • Collectin Sub-Family Member 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 3Mc Syndrome. Among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Innate Immune System. Gene Ontology (GO) annotations related to this gene include mannose binding. An important paralog of this gene is COLEC10.

UniProtKB/Swiss-Prot Summary for COLEC11 Gene

  • Lectin that plays a role in innate immunity, apoptosis and embryogenesis (PubMed:23954398, PubMed:25912189, PubMed:21258343). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at least one terminal alpha-1,2-linked mannose epitope (PubMed:25912189). Primarily recognizes the terminal disaccharide of the glycan (PubMed:25912189). Also recognizes a subset of fucosylated glycans and lipopolysaccharides (PubMed:17179669, PubMed:25912189). Plays a role in innate immunity through its ability to bind non-self sugars presented by microorganisms and to activate the complement through the recruitment of MAPS1 (PubMed:20956340, PubMed:25912189). Also plays a role in apoptosis through its ability to bind in a calcium-independent manner the DNA present at the surface of apoptotic cells and to activate the complement in response to this binding (Probable). Finally, plays a role in development, probably serving as a guidance cue during the migration of neural crest cells and other cell types during embryogenesis (PubMed:21258343, PubMed:28301481).

Additional gene information for COLEC11 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COLEC11 Gene

Genomics for COLEC11 Gene

GeneHancer (GH) Regulatory Elements for COLEC11 Gene

Promoters and enhancers for COLEC11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COLEC11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COLEC11

Top Transcription factor binding sites by QIAGEN in the COLEC11 gene promoter:
  • E2F
  • E2F-1
  • GATA-6
  • HFH-1
  • Ik-2
  • IRF-1
  • STAT5A
  • STAT5B
  • Tal-1beta
  • YY1

Genomic Locations for COLEC11 Gene

Genomic Locations for COLEC11 Gene
chr2:3,594,832-3,644,644
(GRCh38/hg38)
Size:
49,813 bases
Orientation:
Plus strand
chr2:3,642,426-3,692,048
(GRCh37/hg19)
Size:
49,623 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:
    • Homotrimer; disulfide-linked (PubMed:20956340, PubMed:25912189). Interacts with MASP1; probably triggers the lectin pathway of complement (PubMed:20956340).

    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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COLEC11 Gene

Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COLEC11 Gene

GenScript: Design optimal peptide antigens:
  • Collectin kidney protein 1 (COL11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BWP8

UniProtKB/Swiss-Prot:

COL11_HUMAN :
  • Belongs to the COLEC10/COLEC11 family.
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 plays a role in innate immunity, apoptosis and embryogenesis (PubMed:23954398, PubMed:25912189, PubMed:21258343). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at least one terminal alpha-1,2-linked mannose epitope (PubMed:25912189). Primarily recognizes the terminal disaccharide of the glycan (PubMed:25912189). Also recognizes a subset of fucosylated glycans and lipopolysaccharides (PubMed:17179669, PubMed:25912189). Plays a role in innate immunity through its ability to bind non-self sugars presented by microorganisms and to activate the complement through the recruitment of MAPS1 (PubMed:20956340, PubMed:25912189). Also plays a role in apoptosis through its ability to bind in a calcium-independent manner the DNA present at the surface of apoptotic cells and to activate the complement in response to this binding (Probable). Finally, plays a role in development, probably serving as a guidance cue during the migration of neural crest cells and other cell types during embryogenesis (PubMed:21258343, PubMed:28301481).

Phenotypes From GWAS Catalog for COLEC11 Gene

Gene Ontology (GO) - Molecular Function for COLEC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 20956340
GO:0005509 calcium ion binding IDA 25912189
GO:0005515 protein binding IPI 20956340
GO:0005537 mannose binding IDA,IEA 20956340
GO:0030246 carbohydrate 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 Models for COLEC11 Gene

MGI Knock Outs for COLEC11:

Animal Model Products

  • Taconic Biosciences Mouse Models for COLEC11

CRISPR Products

miRNA for COLEC11 Gene

miRTarBase miRNAs that target COLEC11

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COLEC11 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

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 --
GO:0005615 extracellular space IDA,IBA 25912189
genes like me logo Genes that share ontologies with COLEC11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COLEC11 Gene

Pathways & Interactions for COLEC11 Gene

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

Pathways by source for COLEC11 Gene

Gene Ontology (GO) - Biological Process for COLEC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 complement activation, lectin pathway TAS --
GO:0002376 immune system process IEA --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006956 complement activation IDA,TAS --
GO:0007275 multicellular organism development IEA --
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

mRNA/cDNA for COLEC11 Gene

10 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for COLEC11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 (PubMed:17179669). Detected in adrenal gland, kidney, liver, ovaries and testis (at protein level) (PubMed:20956340).

Evidence on tissue expression from TISSUES for COLEC11 Gene

  • Kidney(4.5)
  • Liver(4.4)
  • Lung(4.1)
  • Nervous system(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COLEC11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • breast
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • radius
  • shoulder
  • thigh
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with COLEC11: view

Orthologs for COLEC11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COLEC11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COLEC11 31 30
  • 98.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COLEC11 31 30
  • 88.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Colec11 17 31 30
  • 86.96 (n)
rat
(Rattus norvegicus)
Mammalia Colec11 30
  • 86.22 (n)
cow
(Bos Taurus)
Mammalia COLEC11 31 30
  • 85.02 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COLEC11 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COLEC11 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves COLEC11 31 30
  • 77.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COLEC11 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia colec11 30
  • 71.59 (n)
African clawed frog
(Xenopus laevis)
Amphibia colec11-prov 30
zebrafish
(Danio rerio)
Actinopterygii colec11 31 30
  • 69 (n)
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)
Aminode:
Evolutionary constrained regions (ECRs) for COLEC11: view image

Paralogs for COLEC11 Gene

Paralogs for COLEC11 Gene

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

  • COL11_HUMAN
  • C9JWT5_HUMAN
  • F8WB29_HUMAN
genes like me logo Genes that share paralogs with COLEC11: view

Variants for COLEC11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COLEC11 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
30969 Pathogenic: Carnevale syndrome 3,604,383(+) GC/G FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
638367 Uncertain Significance: Carnevale syndrome 3,643,735(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs10170348 Benign: not specified 3,626,058(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs113269917 Likely Benign: not provided 3,604,363(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs3739147 Benign: not specified 3,606,254(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for COLEC11 Gene

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)

Additional Variant Information 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

(8) MalaCards diseases for COLEC11 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3mc syndrome 2
  • 3mc2
3mc syndrome
  • oculopalatoskeletal syndrome
blepharophimosis
learning disability
  • academic skill disorder
progressive relapsing multiple sclerosis
  • prms
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COL11_HUMAN
  • 3MC syndrome 2 (3MC2) [MIM:265050]: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. {ECO:0000269 PubMed:21258343, ECO:0000269 PubMed:25912189, ECO:0000269 PubMed:28301481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COLEC11

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

No data available for Genatlas for COLEC11 Gene

Publications for COLEC11 Gene

  1. 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 biology 2015) 3 4 54
  2. Characterization of the interaction between collectin 11 (CL-11, CL-K1) and nucleic acids. (PMID: 23954398) Henriksen ML … Hansen S (Molecular immunology 2013) 3 4 54
  3. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. (PMID: 21258343) Rooryck C … Beales PL (Nature genetics 2011) 3 4 54
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41 54
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41 54

Products for COLEC11 Gene

Sources for COLEC11 Gene