Human Gene COLEC11 (uc010ewp.4)
  Description: Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 7, mRNA.
RefSeq Summary (NM_001255986): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:3,653,642-3,692,234 Size: 38,593 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr2:3,653,782-3,691,708 Size: 37,927 Coding Exon Count: 6 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:3,653,642-3,692,234)mRNA (may differ from genome)Protein (245 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIOMIMPubMed
ReactomeUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): COLEC11
CDC HuGE Published Literature: COLEC11

-  MalaCards Disease Associations
  MalaCards Gene Search: COLEC11
Diseases sorted by gene-association score: 3mc syndrome 2* (1340), 3mc syndrome* (460), learning disability (16)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.19 RPKM in Liver
Total median expression: 131.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.80140-0.327 Picture PostScript Text
3' UTR -160.20526-0.305 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00059 - Lectin C-type domain
PF01391 - Collagen triple helix repeat (20 copies)

SCOP Domains:
56436 - C-type lectin-like

ModBase Predicted Comparative 3D Structure on Q9BWP8-4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK313840 - Homo sapiens cDNA, FLJ94467.
AB119525 - Homo sapiens CL-K1-I mRNA for Collectin Kidney 1, complete cds.
AB119650 - Homo sapiens CL-K1-Ia mRNA for collectin kidney I, complete cds.
AB119651 - Homo sapiens CL-K1-Ib mRNA for collectin kidney I, complete cds.
AB119652 - Homo sapiens CL-K1-Ic mRNA for collectin kidney I, complete cds.
BC009951 - Homo sapiens collectin sub-family member 11, mRNA (cDNA clone MGC:14216 IMAGE:4125795), complete cds.
BC000078 - Homo sapiens collectin sub-family member 11, mRNA (cDNA clone MGC:3279 IMAGE:3507377), complete cds.
AY358439 - Homo sapiens clone DNA59848 RGNL596 (UNQ596) mRNA, complete cds.
AK303824 - Homo sapiens cDNA FLJ59812 complete cds, highly similar to Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.
HQ447196 - Synthetic construct Homo sapiens clone IMAGE:100070491; CCSB003576_02 collectin sub-family member 11 (COLEC11) gene, encodes complete protein.
KJ894619 - Synthetic construct Homo sapiens clone ccsbBroadEn_04013 COLEC11 gene, encodes complete protein.
CR936641 - Homo sapiens mRNA; cDNA DKFZp686N1868 (from clone DKFZp686N1868).
AB119684 - Homo sapiens CL-K1-II mRNA for collectin kidney I, complete cds.
AB119685 - Homo sapiens CL-K1-IIa mRNA for collectin kidney I, complete cds.
AB119686 - Homo sapiens CL-K1-IIb mRNA for collectin kidney I, complete cds.
AB119687 - Homo sapiens CL-K1-IIc mRNA for collectin kidney K1, complete cds.
JD535926 - Sequence 516950 from Patent EP1572962.
JD104148 - Sequence 85172 from Patent EP1572962.
JD273350 - Sequence 254374 from Patent EP1572962.
JD236852 - Sequence 217876 from Patent EP1572962.
JD062389 - Sequence 43413 from Patent EP1572962.
JD357338 - Sequence 338362 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BWP8 (Reactome details) participates in the following event(s):

R-HSA-8852509 CL-LK binds carbohydrates on target cell surface
R-HSA-2203480 COLEC11 binds ligands
R-HSA-166753 Conversion of C4 into C4a and C4b
R-HSA-166792 Conversion of C2 into C2a and C2b
R-HSA-166662 Lectin pathway of complement activation
R-HSA-3000480 Scavenging by Class A Receptors
R-HSA-166786 Creation of C4 and C2 activators
R-HSA-2173782 Binding and Uptake of Ligands by Scavenger Receptors
R-HSA-166663 Initial triggering of complement
R-HSA-5653656 Vesicle-mediated transport
R-HSA-166658 Complement cascade
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001255986, NP_001242915, Q9BWP8-4, uc010ewp.3, UNQ596/PRO1182
UCSC ID: uc010ewp.4
RefSeq Accession: NM_001255986
Protein: Q9BWP8-4, splice isoform of Q9BWP8 CCDS: CCDS58691.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001255986.1
exon count: 6CDS single in 3' UTR: no RNA size: 1404
ORF size: 738CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1576.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.