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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NT_010859.15  NC_018929.2  
Regulatory elements:
   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 Chromatin IP Primers for COLEC12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Glycosylation2 at Asn67, Asn159, Asn168, Asn271
  • Modification sites at PhosphoSitePlus

  • See COLEC12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_569057.1  
    ENSEMBL proteins: 
     ENSP00000383115  
    Reactome Protein details: Q5KU26

    COLEC12 Human Recombinant Protein Products:

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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.

    COLEC12 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for COLEC12

    COLEC12 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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: Let us create your new Knockout/Knockin mouse model 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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    miRTarBase miRNAs that target COLEC12:
    hsa-mir-7-5p (MIRT025879), hsa-mir-9-5p (MIRT021483), hsa-mir-26b-5p (MIRT029943)

    Block miRNA regulation of human, mouse, rat COLEC12 using miScript Target Protectors
    7 qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for COLEC12
    Predesigned siRNA for gene silencing in human, mouse, rat COLEC12

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for COLEC12 (see all 6)
    OriGene ORF clones in mouse, rat for COLEC12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COLEC12 (NM_130386)
    Sino Biological Human cDNA Clone for COLEC12
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COLEC12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COLEC12

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COLEC12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COL12_HUMAN, Q5KU26: Membrane; Single-pass type II membrane protein. Note=Forms clusters on the cell surface
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane3
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    COLEC12 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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 Receptors0.53
    Scavenging by Class A Receptors0.00
    2Phagosome
    Phagosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for COLEC12
        Scavenging by Class A Receptors


    1 Kegg Pathway  (Kegg details for COLEC12):
        Phagosome


    COLEC12 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COLEC12: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Antifungal Response in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COLEC12

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for COLEC12 (Q5KU263 ENSP000003831154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC1Q9NV703, ENSP000003265144I2D: score=2 STRING: ENSP00000326514
    SGTAENSP000002215664STRING: ENSP00000221566
    SGTBENSP000003703954STRING: ENSP00000370395
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002221pattern recognition receptor signaling pathway IDA11564734
    GO:0006898receptor-mediated endocytosis TAS11162630
    GO:0006910phagocytosis, recognition IDA11564734
    GO:0006952defense response TAS11162630
    GO:0006955immune response ----

    COLEC12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    COLEC12 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat COLEC12 using miScript Target Protectors
    7 qRT-PCR 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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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COLEC12 (NM_130386)
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    OriGene qPCR primer pairs and template standards for COLEC12
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COLEC12
      QuantiTect SYBR Green Assays in human, mouse, rat COLEC12
      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 

    Selected AceView cDNA sequences (see all 106):

    BQ030255 CF528303 CA392710 AL543001 AL541116 R74388 BX377133 N48549 
    AA775122 CR610483 CD632749 NM_030781 AW264006 BC060789 AI968658 W67228 
    AW316714 AW029149 AA977789 BQ004176 AW275816 AI147677 BQ021066 BP346167 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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
     selected tissues (see all 20) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Zeugopod Long Bone
     
     NULL (Uncategorized)    fully expand to see all 4 entries
             Definitive endoderm-like cells
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor
    COLEC12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COLEC12 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COLEC12: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Antifungal Response in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for COLEC12
    OriGene qSTAR qPCR primer pairs in human, mouse for COLEC12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COLEC12
    QuantiTect SYBR Green Assays in human, mouse, rat COLEC12
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for COLEC12 gene from Selected species (see all 13)    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 76.03(n)
    81.45(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 
    worm
    (Caenorhabditis elegans)
    Secernentea col-1876
    col-1186
    (see all 14)
    Protein COL-187 (col-187) mRNA, complete cds
    Protein COL-118, isoform a (col-118) mRNA, complet...
    (see all 14)
    29(a)
    29(a)
    (see all 14)
    many ↔ many
    many ↔ many
    (see all 14)
    X(16072903-16074852) WBGene00000760
    IV(8848182-8849676) WBGene00000692


    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

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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COLEC12 (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
    ----------
    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
    rs106601,2
    C,F,H--309581(-) CTAGGG/TTTTCC 1 -- ut31 ese323Minor allele frequency- T:0.26MN NS EA NA WA CSA 2566

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COLEC12
    DNA2.0 Custom Variant and Variant Library Synthesis for COLEC12

    (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.)
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    OMIM gene information: 607621    OMIM disorders: --

    12 diseases for COLEC12:    About MalaCards
    enamel erosion    cerebral amyloid angiopathy    major depressive disorder    endotheliitis
    meningitis    cerebritis    bipolar disorder    schizophrenia
    hepatitis b    alzheimer's disease    obesity    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)
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    PubMed articles for COLEC12 gene, integrated from 10 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. (Biochem. Biophys. Res. Commun. 2001)
    2. Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene. (PubMed id 12601552)1, 2, 9 Ohmori H.... Hata A. (J. Hum. Genet. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (Mol. Med. 2010)
    6. SRCL/CL-P1 recognizes GalNAc and a carcinoma-associated antigen, Tn antigen. (PubMed id 12761161)1, 2 Yoshida T.... Suzuki R. (J. Biochem. 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. (Mol. Immunol. 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. (J. Biol. Chem. 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. (J. Neurosci. Res. 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. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 81035 HGNC: 16016 AceView: COLEC12 Ensembl:ENSG00000158270 euGenes: HUgn81035
    ECgene: COLEC12 Kegg: 81035 H-InvDB: COLEC12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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