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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 3Mc Syndrome. Among its related pathways are Creation of C4 and C2 activators 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 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).

Additional gene information for COLEC11 Gene

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

Genomics for COLEC11 Gene

GeneHancer (GH) Regulatory Elements for COLEC11 Gene

Promoters and enhancers for COLEC11 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I003602 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 581.9 +9.8 9780 3.5 MLX ARID4B SIN3A DMAP1 YY1 FOS SP3 SP5 MXD4 REST COLEC11 ENSG00000237370 RPS7 RNASEH1 GC02P003608
GH02I003594 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 557.3 +0.5 528 1.8 HDAC1 ATF1 RB1 RAD21 YY1 CHAMP1 RCOR1 ATF7 BCLAF1 IKZF2 COLEC11 RPS7 RNASEH1-AS1 ENSG00000237370
GH02I003601 Promoter 0.9 EPDnew 550.4 +7.0 6958 0.1 ZNF639 MEIS2 KLF1 L3MBTL2 ZBTB2 TEAD4 NRF1 HDAC2 POLR2A IKZF1 COLEC11 ENSG00000237370
GH02I003574 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE 28.6 -18.5 -18480 3.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS7 TRAPPC12 RNASEH1 COLEC11 RNASEH1-AS1
GH02I003534 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE 21.4 -58.6 -58627 3.1 ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 CBX5 ENSG00000242282 RNASEH1-AS1 COLEC11 RNASEH1 RPS7 ENSG00000255767 ADI1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COLEC11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COLEC11 gene promoter:

Genomic Locations for COLEC11 Gene

Genomic Locations for COLEC11 Gene
49,813 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A1IGE4
    • A1IGE5
    • A1IGE6
    • A7VJJ2
    • A7VJJ3
    • A7VJJ4
    • A7VJJ5
    • B2R9M5
    • B4E1G0
    • J3KQY9
    • Q5CZ85
    • Q7Z6N1

    Protein attributes for COLEC11 Gene

    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

No Post-translational modifications

No data available for DME Specific Peptides for COLEC11 Gene

Domains & Families for COLEC11 Gene

Gene Families for COLEC11 Gene

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

Suggested Antigen Peptide Sequences for COLEC11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the COLEC10/COLEC11 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).

Phenotypes From GWAS Catalog for COLEC11 Gene

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 --
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

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


Subcellular locations from

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
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

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:0006508 proteolysis IEA --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006956 complement activation 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

Unigene Clusters for COLEC11 Gene

Collectin sub-family member 11:
Representative Sequences:

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: - -

Relevant External Links for COLEC11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COLEC11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for COLEC11 Gene

Protein tissue co-expression partners for COLEC11 Gene

NURSA nuclear receptor signaling pathways regulating expression of COLEC11 Gene:


SOURCE GeneReport for Unigene cluster for COLEC11 Gene:


mRNA Expression by UniProt/SwissProt for COLEC11 Gene:

Tissue specificity: Ubiquitous.

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
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
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
  • breast
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • radius
  • shoulder
  • thigh
  • toe
  • ulna
  • upper limb
  • wrist
  • 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
(Pan troglodytes)
Mammalia COLEC11 33 34
  • 98.48 (n)
(Canis familiaris)
Mammalia COLEC11 33 34
  • 88.85 (n)
(Mus musculus)
Mammalia Colec11 33 16 34
  • 86.96 (n)
(Rattus norvegicus)
Mammalia Colec11 33
  • 86.22 (n)
(Bos Taurus)
Mammalia COLEC11 33 34
  • 85.02 (n)
(Monodelphis domestica)
Mammalia COLEC11 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia COLEC11 34
  • 79 (a)
(Gallus gallus)
Aves COLEC11 33 34
  • 77.61 (n)
(Anolis carolinensis)
Reptilia COLEC11 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia colec11 33
  • 71.59 (n)
African clawed frog
(Xenopus laevis)
Amphibia colec11-prov 33
(Danio rerio)
Actinopterygii colec11 33 34
  • 69 (n)
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

Gene Tree for COLEC11 (if available)
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 Variation AA Info Type
rs387907075 pathogenic, Carnevale syndrome, 3MC syndrome 2 (3MC2) [MIM:265050] 3,643,807(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs387907076 pathogenic, Carnevale syndrome, 3MC syndrome 2 (3MC2) [MIM:265050] 3,643,912(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_078813 3MC syndrome 2 (3MC2) [MIM:265050] p.Ala166Thr
rs113269917 likely-benign, not provided 3,604,363(+) T/A/C 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs786205631 uncertain-significance, not specified 3,603,614(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for COLEC11 Gene

MalaCards: The human disease database

(3) MalaCards diseases for COLEC11 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3mc syndrome 2
  • 3mc2
3mc syndrome
  • craniofacial-ulnar-renal syndrome
learning disability
  • academic skill disorder
- elite association - COSMIC cancer census association via MalaCards


  • 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:28301481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COLEC11

Genetic Association Database
Human Genome Epidemiology Navigator
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. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. (PMID: 21258343) Rooryck C … Beales PL (Nature genetics 2011) 3 4 58
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  4. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T … Yamada Y (International journal of molecular medicine 2009) 3 44 58
  5. Identification and characterization of a novel human collectin CL-K1. (PMID: 17179669) Keshi H … Wakamiya N (Microbiology and immunology 2006) 3 4 58

Products for COLEC11 Gene

Sources for COLEC11 Gene

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