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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COLEC12 Gene

protein-coding   GIFtS: 59
GCID: GC18M000309

Collectin Sub-Family Member 12

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Collectin Sub-Family Member 121 2     SCARA42 3
CLP12 3 5     hCL-P12 3
SRCL2 3 5     collectin-122
Collectin Placenta Protein 12 3     Scavenger Receptor Class A, Member 42
Nurse Cell Scavenger Receptor 22 3     CL-P13
Scavenger Receptor With C-Type Lectin2 3     Scavenger Receptor Class A Member 43
NSR22 3     

External Ids:    HGNC: 160161   Entrez Gene: 810352   Ensembl: ENSG000001582707   OMIM: 6076215   UniProtKB: Q5KU263   

Export aliases for COLEC12 gene to outside databases

Previous GC identifers: GC18M000603 GC18M000306


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COLEC12 Gene:
This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate
recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several
functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating
their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively
modified low density lipoprotein by vascular endothelial cells. (provided by RefSeq, Oct 2011)

GeneCards Summary for COLEC12 Gene: 
COLEC12 (collectin sub-family member 12) is a protein-coding gene. Diseases associated with COLEC12 include enamel erosion, and cerebral amyloid angiopathy, and among its related super-pathways are Scavenging of Heme from Plasma. GO annotations related to this gene include scavenger receptor activity and signaling pattern recognition receptor activity. An important paralog of this gene is COL28A1.

UniProtKB/Swiss-Prot: COL12_HUMAN, Q5KU26
Function: Scavenger receptor that displays several functions associated with host defense. Promotes binding and
phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and
degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to
several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a
calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X
or a trisaccharide and asialo-orosomucoid (ASOR). May also play a role in the clearance of amyloid beta in
Alzheimer disease




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COLEC12 gene promoter:
         HFH-3   SRF   AML1a   SRF (504 AA)   IRF-1   FOXI1   Nkx6-1   FOXO4   HFH-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOLEC12 promoter sequence
   Search SABiosciences Chromatin IP Primers for COLEC12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COLEC12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.32   HGNC cytogenetic band: 18p11.32

COLEC12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COLEC12 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M000309:  view genomic region     (about GC identifiers)

Start:
319,355 bp from pter      End:
500,729 bp from pter
Size:
181,375 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: COL12_HUMAN, Q5KU26 (See protein sequence)
Recommended Name: Collectin-12  
Size: 742 amino acids; 81515 Da
Subunit: The extracellular domain forms a stable trimer. The extracellular domain interacts with fibrillar beta
amyloid peptide
Subcellular location: Membrane; Single-pass type II membrane protein. Note=Forms clusters on the cell surface
Sequence caution: Sequence=BAB39148.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
1 PDB 3D structure from and Proteopedia for COLEC12:
2OX8 (3D)    
Secondary accessions: Q6P9F2 Q8TCR2 Q8WZA4 Q9BY85 Q9BYH7

Explore the universe of human proteins at neXtProt for COLEC12: NX_Q5KU26

Explore proteomics data for COLEC12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5KU26

  • COLEC12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COLEC12 Protein Expression
    REFSEQ proteins: NP_569057.1  
    ENSEMBL proteins: 
     ENSP00000383115  
    Reactome Protein details: Q5KU26
    Human Recombinant Protein Products for COLEC12: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for COLEC12
    OriGene MassSpec for COLEC12 
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    Novus Biologicals COLEC12 Proteins
    Novus Biologicals COLEC12 Lysates
    Sino Biological Recombinant Protein for COLEC12
    Sino Biological Cell Lysate for COLEC12 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane TAS11162630
    GO:0030666endocytic vesicle membrane TAS--

    COLEC12 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    COLEC: Collectins

    5 InterPro protein domains:
     IPR016187 C-type_lectin_fold
     IPR018378 C-type_lectin_CS
     IPR016186 C-type_lectin-like
     IPR001304 C-type_lectin
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q5KU26

    ProtoNet protein and cluster: Q5KU26

    2 Blocks protein domains:
    IPB002353 Type II antifreeze protein signature
    IPB008160 Collagen triple helix repeat


    UniProtKB/Swiss-Prot: COL12_HUMAN, Q5KU26
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 3 collagen-like domains


    COLEC12 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COL12_HUMAN, Q5KU26
    Function: Scavenger receptor that displays several functions associated with host defense. Promotes binding and
    phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and
    degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to
    several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a
    calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X
    or a trisaccharide and asialo-orosomucoid (ASOR). May also play a role in the clearance of amyloid beta in
    Alzheimer disease

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005044scavenger receptor activity TAS11162630
    GO:0005534galactose binding NAS11564734
    GO:0008329signaling pattern recognition receptor activity IDA11564734
    GO:0030169low-density lipoprotein particle binding IDA11564734
    GO:0030246carbohydrate binding ----
         
    COLEC12 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COLEC12:
     Increased G1 DNA content  Proliferating cells 

         1 MGI phenotypic allele for Colec12 (no phenotypes)

    COLEC12 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COLEC12 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COLEC12 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COLEC12 

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate COLEC12:
    hsa-miR-3685 hsa-miR-1290 hsa-miR-9 hsa-let-7g* hsa-miR-493* hsa-miR-155* hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidCOLEC12 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for COLEC12
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COLEC12


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COLEC12 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.63
    2Scavenging by Class A Receptors
    Scavenging by Class A Receptors
    3Phagosome
    Phagosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2        Reactome Pathways for COLEC12
        Scavenging by Class A Receptors
    Binding and Uptake of Ligands by Scavenger Receptors


    1         Kegg Pathway  (Kegg details for COLEC12):
        Phagosome


    COLEC12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COLEC12

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for COLEC12 (Q5KU263 ENSP000003831154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC1Q9NV703, ENSP000003265144I2D: score=2 STRING: ENSP00000326514
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002221pattern recognition receptor signaling pathway IDA11564734
    GO:0006910phagocytosis, recognition IDA11564734
    GO:0006952defense response TAS11162630
    GO:0006955immune response ----
    GO:0009756carbohydrate mediated signaling NAS11564734

    COLEC12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    COLEC12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COLEC12 (COL12)

    3 HMDB Compounds for COLEC12    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    D-Galactose(+)-Galactose (see all 14)59-23-4--
    Lewis X trisaccharide3-Fucosyl-N-acetyllactosamine (see all 8)71208-06-5--

    2 Novoseek inferred chemical compound relationships for COLEC12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    galactose 41.3 2 16670103 (1), 15845541 (1)
    polysaccharide 39.6 4 16670103 (1), 17420244 (1), 15845541 (1)

    Search CenterWatch for drugs/clinical trials and news about COLEC12 / COL12

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COLEC12 gene (2 alternative transcripts): 
    NM_130386.2  NM_030781.2  

    Unigene Cluster for COLEC12:

    Collectin sub-family member 12
    Hs.464422  [show with all ESTs]
    Unigene Representative Sequence: NM_130386
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400256(uc002kkm.3) ENST00000582147
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COLEC12
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate COLEC12:
    hsa-miR-3685 hsa-miR-1290 hsa-miR-9 hsa-let-7g* hsa-miR-493* hsa-miR-155* hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidCOLEC12 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: COLEC12 (NM_130386)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COLEC12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COLEC12
    Sirion Biotech Customized lentivirus for stable overexpression of COLEC12 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COLEC12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COLEC12

    Additional mRNA sequence: 

    AB005145.1 AB034251.1 AB038518.1 AL713657.1 BC060789.1 

    5 DOTS entries:

    DT.455710  DT.91973502  DT.95310302  DT.97804571  DT.95371373 

    24/106 AceView cDNA sequences (see all 106):

    R74388 AL541116 AA775122 AL543001 CF528303 N48549 CA392710 BQ030255 
    BX377133 CR610483 BM721855 AI368731 CD632747 AI968658 BM993196 BQ017398 
    AA304251 BG152599 CB989155 NM_130386 AW771730 AW316714 BU624773 AI923805 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COLEC12 expression in normal human tissues (normalized intensities)      COLEC12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCCAAAGA
    COLEC12 Expression
    About this image


    COLEC12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 12 entries
             Zeugopod Long Bone
             Human fetal bone marrow-derived mesenchymal stromal cells
             skeleton/pectoral girdle and thoracic body wall/sternum   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 7 entries
             PureStem 4D20.8, NCr-fac Progenitor
             skeleton/cranium/chondrocranium   
     
     Uncategorized (Uncategorized)    fully expand to see all 6 entries
             PureStem progenitor F15
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             sensory organ/ear/inner ear   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Trachea
             Human Tracheal Smooth Muscle Cells (HTSMC)   
             visceral organ/lung/right lung   

    See COLEC12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COLEC12

    SOURCE GeneReport for Unigene cluster: Hs.464422

    UniProtKB/Swiss-Prot: COL12_HUMAN, Q5KU26
    Tissue specificity: Expressed in perivascular macrophages. Expressed in plaques-surrounding reactive astrocytes
    and in perivascular astrocytes associated with cerebral amyloid angiopathy (CAA) in the temporal cortex of
    Alzheimer patient (at protein level). Strongly expressed in placenta. Moderately expressed in heart, skeletal
    muscle, small intestine and lung. Weakly expressed in brain, colon, thymus and kidney. Expressed in nurse-like
    cells. Expressed in reactive astrocytes and vascular/perivascular cells in the brain of Alzheimer patient

        SABiosciences Expression via Pathway-Focused PCR Arrays including COLEC12: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Antifungal Response in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COLEC12
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COLEC12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for COLEC12 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Colec121 , 5 collectin sub-family member 121, 5 87.69(n)1
    92.45(a)1
      18 (4.91 cM)5
    1407921  NM_130449.21  NP_569716.21 
     97076485 
    chicken
    (Gallus gallus)
    Aves COLEC121 collectin sub-family member 12 76.01(n)
    81.22(a)
      421061  NM_001039599.1  NP_001034688.1 
    lizard
    (Anolis carolinensis)
    Reptilia COLEC126
    collectin sub-family member 12
    76(a)
    1 ↔ 1
    4(39363120-39459939)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.199552 Xenopus laevis transcribed sequence with strong similarity more 85.81(n)    BQ401058.1 
    zebrafish
    (Danio rerio)
    Actinopterygii idibd28262 idibd2826 79.13(n)   338130  AI545067.1 


    ENSEMBL Gene Tree for COLEC12 (if available)
    TreeFam Gene Tree for COLEC12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COLEC12 gene
    COL28A12  COL6A12  COL6A52  COLQ2  COL6A62  COL6A22  SCARA32  COL17A12  
    COL6A32  
    5 SIMAP similar genes for COLEC12 using alignment to 1 protein entry:     COL12_HUMAN:
    CLEC6A    SCARA3    FCER2    REG1B    REG1A

    COLEC12 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4292 SNPs in COLEC12 are shown (see all 4292)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0388554
    ----see VAR_0388552 S P mis40--------
    rs1812639351,2
    --309083(+) TCTGCC/TTTTGG 1 -- ds50010--------
    rs588816841,2
    C--309102(+) ACGCC-/ATACGT 1 -- ds50010--------
    rs1855389511,2
    --309179(+) CAGGGC/TCTTCC 1 -- ds50010--------
    rs124584341,2
    C,H--309233(+) TCCCCC/TACACC 1 -- ds50012Minor allele frequency- T:0.03NA EA 122
    rs6757121,2
    C,F,O,H--309311(+) CACACG/ATCAAG 1 -- ds500121Minor allele frequency- A:0.42MN NS EA NA WA CSA 2510
    rs1898547771,2
    --309337(+) TGGGCA/TCAAGG 1 -- ds50010--------
    rs28466111,2
    C,F--309407(-) AAATAT/CCCTTG 1 -- ds50015Minor allele frequency- C:0.27NA EA 246
    rs1998772381,2
    --309499(+) TATAT-/ACACATG 1 -- ut310--------
    rs124584881,2
    C,F,H--309500(+) ATATAT/CACATG 1 -- ut31 ese33Minor allele frequency- C:0.25NA 8

    HapMap Linkage Disequilibrium report for COLEC12 (319355 - 500729 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for COLEC12 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2177CNV Insertion18451855
    nsv517980CNV Loss19592680
    nsv510444CNV Loss20534489
    nsv909290CNV Loss21882294
    nsv909289CNV Loss21882294
    nsv522804CNV Loss19592680
    nsv909288CNV Loss21882294
    nsv909291CNV Gain21882294
    nsv518642CNV Gain19592680
    nsv909287CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607621    OMIM disorders: --

    9 diseases for COLEC12:    About MalaCards
    enamel erosion    cerebral amyloid angiopathy    major depressive disorder    endotheliitis
    cerebritis    schizophrenia    hepatitis b    alzheimer's disease
    hepatitis


    COLEC12 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): COLEC12
    Human Genome Epidemiology (HuGE) Navigator: COLEC12 (2 documents)

    Export disorders for COLEC12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COLEC12 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with COLEC12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional characterization of a human scavenger receptor with C-type lectin (SRCL), a novel member of a scavenger receptor family. (PubMed id 11162630)1, 2, 3, 9 Nakamura K.... Nakamura T. (2001)
    2. Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene. (PubMed id 12601552)1, 2, 9 Ohmori H.... Hata A. (2003)
    3. Selective binding of the scavenger receptor C-type lectin to Lewis X trisaccharide and related glycan ligands. (PubMed id 15845541)1, 2, 9 Coombs P.J.... Taylor M.E. (2005)
    4. The membrane-type collectin CL-P1 is a scavenger receptor on vascular endothelial cells. (PubMed id 11564734)1, 2, 9 Ohtani K.... Wakamiya N. (2001)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. SRCL/CL-P1 recognizes GalNAc and a carcinoma-associated antigen, Tn antigen. (PubMed id 12761161)1, 2 Yoshida T.... Suzuki R. (2003)
    7. Expression and tissue localization of collectin placenta 1 (CL-P1, SRCL) in human tissues. (PubMed id 18423602)1, 9 Selman L....Hansen S. (2008)
    8. Scavenger receptor collectin placenta 1 (CL-P1) predominantly mediates zymosan phagocytosis by human vascular endothelial cells. (PubMed id 19073604)1, 9 Jang S....Wakamiya N. (2009)
    9. Possible role of scavenger receptor SRCL in the clearance of amyloid- beta in Alzheimer's disease. (PubMed id 16868960)2, 9 Nakamura K.... Nakamura T. (2006)
    10. Scavenger receptor C-type lectin binds to the leukocyte cell surface glycan Lewis X by a novel mechanism. (PubMed id 17420244)2, 9 Feinberg H.... Weis W.I. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81035 HGNC: 16016 AceView: COLEC12 Ensembl:ENSG00000158270 euGenes: HUgn81035
    ECgene: COLEC12 Kegg: 81035 H-InvDB: COLEC12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COLEC12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COLEC12 gene:
    Search GeneIP for patents involving COLEC12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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