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

CLEC7A Gene

protein-coding   GIFtS: 61
GCID: GC12M010269

C-Type Lectin Domain Family 7, Member A

(Previous names: C-type (calcium dependent, carbohydrate-recognition domain)...)
(Previous symbol: CLECSF12)
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
C-Type Lectin Domain Family 7, Member A1 2     DC-Associated C-Type Lectin 12 3
CLECSF121 2 3 5     CANDF42 5
DECTIN12 3 5     C-Type Lectin Domain Family 7 Member A2
C-Type (Calcium Dependent, Carbohydrate-Recognition Domain) Lectin,
Superfamily Member 121 2
     dectin-12
Beta-Glucan Receptor2 3     Dendritic Cell-Associated C-Type Lectin-12
Dendritic Cell-Associated C-Type Lectin 12 3     Lectin-Like Receptor 12
BGR2 3     Dectin-13
C-Type Lectin Superfamily Member 122 3     

External Ids:    HGNC: 145581   Entrez Gene: 645812   Ensembl: ENSG000001722437   OMIM: 6062645   UniProtKB: Q9BXN23   

Export aliases for CLEC7A gene to outside databases

Previous GC identifers: GC12M010161 GC12M010012


(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 CLEC7A Gene:
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded
glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a
cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition
receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in
this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different
isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on
chromosome 12p13 in the natural killer gene complex region. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLEC7A Gene: 
CLEC7A (C-type lectin domain family 7, member A) is a protein-coding gene. Diseases associated with CLEC7A include invasive aspergillosis, and transient arthritis, and among its related super-pathways are Inflammasome Activation Pathways. GO annotations related to this gene include carbohydrate binding and MHC protein binding. An important paralog of this gene is OLR1.

UniProtKB/Swiss-Prot: CLC7A_HUMAN, Q9BXN2
Function: Lectin that functions as pattern receptor specific for beta-1,3-linked and beta-1,6-linked glucans, such
as cell wall constituents from pathogenic bacteria and fungi. Necessary for the TLR2-mediated inflammatory
response and for TLR2-mediated activation of NF-kappa-B. Enhances cytokine production in macrophages and
dendritic cells. Mediates production of reactive oxygen species in the cell. Mediates phagocytosis of C.albicans
conidia. Binds T-cells in a way that does not involve their surface glycans and plays a role in T-cell
activation. Stimulates T-cell proliferation (By similarity)

Gene Wiki entry for CLEC7A Gene


(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_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLEC7A gene promoter:
         Nkx3-1   Nkx3-1 v4   AML1a   GATA-3   FOXD3   Nkx3-1 v1   GATA-2   GATA-1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLEC7A promoter sequence
   Search SABiosciences Chromatin IP Primers for CLEC7A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLEC7A


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

Entrez Gene cytogenetic band: 12p13.2   Ensembl cytogenetic band:  12p13.2   HGNC cytogenetic band: 12p13.2-p12.3

CLEC7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLEC7A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M010269:  view genomic region     (about GC identifiers)

Start:
10,269,376 bp from pter      End:
10,282,868 bp from pter
Size:
13,493 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: CLC7A_HUMAN, Q9BXN2 (See protein sequence)
Recommended Name: C-type lectin domain family 7 member A  
Size: 247 amino acids; 27627 Da
Subunit: Homodimer (By similarity). Interacts with SYK; participates in leukocyte activation in presence of fungal
pathogens (By similarity). Isoform 5 interacts with RANBP9
Subcellular location: Cell membrane; Single-pass type II membrane protein
Subcellular location: Isoform 5: Cytoplasm
Subcellular location: Isoform 6: Cytoplasm (Probable)
Subcellular location: Isoform 7: Cytoplasm (Probable)
Secondary accessions: B2R861 B7Z494 B7Z5A9 B7Z5B9 Q6IPS7 Q96D32 Q96DR9 Q96LD3 Q96PA4 Q96PA5
Q96PA6 Q96PA7 Q96PA8 Q9H1K3
Alternative splicing: 10 isoforms:  Q9BXN2-1   Q9BXN2-2   Q9BXN2-3   Q9BXN2-4   Q9BXN2-5   Q9BXN2-6   Q9BXN2-7   Q9BXN2-8   
Q9BXN2-9   Q9BXN2-10   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLEC7A: NX_Q9BXN2

Explore proteomics data for CLEC7A at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine residues in response to glucan binding (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXN2

  • CLEC7A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLEC7A Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_072092.2  NP_922938.1  NP_922939.1  NP_922940.1  NP_922941.1  NP_922945.1  

    ENSEMBL proteins: 
     ENSP00000266456   ENSP00000432876   ENSP00000298523   ENSP00000379743   ENSP00000302569  
     ENSP00000436923   ENSP00000344723   ENSP00000431461   ENSP00000434392   ENSP00000312089  
     ENSP00000434954  

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    Novus Biologicals CLEC7A Protein
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    Sino Biological Recombinant Protein for CLEC7A
    Sino Biological Cell Lysate for CLEC7A 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CLEC7A 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane ----
    GO:0009897external side of plasma membrane IEA--
    GO:0016021integral to membrane TAS11567029

    CLEC7A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CLEC: C-type lectin domain containing

    3 InterPro protein domains:
     IPR016187 C-type_lectin_fold
     IPR016186 C-type_lectin-like
     IPR001304 C-type_lectin

    Graphical View of Domain Structure for InterPro Entry Q9BXN2

    ProtoNet protein and cluster: Q9BXN2

    1 Blocks protein domain: IPB013600 Ly49-like N-terminal

    UniProtKB/Swiss-Prot: CLC7A_HUMAN, Q9BXN2
    Similarity: Contains 1 C-type lectin domain


    CLEC7A 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: CLC7A_HUMAN, Q9BXN2
    Function: Lectin that functions as pattern receptor specific for beta-1,3-linked and beta-1,6-linked glucans, such
    as cell wall constituents from pathogenic bacteria and fungi. Necessary for the TLR2-mediated inflammatory
    response and for TLR2-mediated activation of NF-kappa-B. Enhances cytokine production in macrophages and
    dendritic cells. Mediates production of reactive oxygen species in the cell. Mediates phagocytosis of C.albicans
    conidia. Binds T-cells in a way that does not involve their surface glycans and plays a role in T-cell
    activation. Stimulates T-cell proliferation (By similarity)
    Induction: Up-regulated during differentiation from monocytes into dendritic cells

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001846opsonin binding IEA--
    GO:0001872(1->3)-beta-D-glucan binding IEA--
    GO:0001874(1->3)-beta-D-glucan receptor activity IEA--
    GO:0005515protein binding ----
    GO:0008329signaling pattern recognition receptor activity IDA11567029
         
    CLEC7A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CLEC7A:
     Decreased viability of wild-ty  Small cells 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Clec7a):
     digestive/alimentary  homeostasis/metabolism  immune system  mortality/aging  respiratory system 

    CLEC7A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CLEC7A: Clec7atm1Gdb Clec7atm1Yiw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CLEC7A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLEC7A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLEC7A 

    miRNA
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    hsa-miR-708* hsa-miR-3153
    SwitchGear 3'UTR luciferase reporter plasmidCLEC7A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLEC7A


    (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 CLEC7A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Toll-Like receptor Signaling Pathways
    Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways0.31
    2Tuberculosis
    Tuberculosis
    3Phagosome
    Phagosome
    4NF-kappaB Signaling
    NF-kappaB Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CLEC7A
        Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways


    1 Cell Signaling Technology (CST) Pathway for CLEC7A
        NF-kappaB Signaling



    2         Kegg Pathways  (Kegg details for CLEC7A):
        Phagosome
    Tuberculosis


    CLEC7A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CLEC7A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/12 Interacting proteins for CLEC7A (Q9BXN23 ENSP000003025694) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TLR2O606033, ENSP000002600104I2D: score=1 STRING: ENSP00000260010
    BNIP3LO602383I2D: score=1 
    CD37P110493I2D: score=1 
    CD63P089623I2D: score=1 
    SYNE4Q8N2053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001878response to yeast ----
    GO:0001879detection of yeast IEA--
    GO:0002221pattern recognition receptor signaling pathway ----
    GO:0002238response to molecule of fungal origin ----
    GO:0002366leukocyte activation involved in immune response IEA--

    CLEC7A 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

    CLEC7A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CLEC7A (CLC7A)

    6 Novoseek inferred chemical compound relationships for CLEC7A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    laminarin 82.7 1 11424011 (1)
    zymosan 79.6 6 7543539 (2), 7530718 (1), 9916047 (1), 19811837 (1)
    mannose 73.3 12 7790075 (2), 1593222 (1), 8991539 (1), 18025938 (1) (see all 10)
    glucose 23.6 3 7505123 (1), 7641306 (1), 1334474 (1)
    tyrosine 19.1 1 11567029 (1)
    dexamethasone 1.94 2 7505123 (1), 8132226 (1)

    Search CenterWatch for drugs/clinical trials and news about CLEC7A / CLC7A

    (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 CLEC7A gene (9 alternative transcripts): 
    NM_022570.4  NM_197947.2  NM_197948.2  NM_197949.2  NM_197950.2  NM_197954.2  NM_197951.1  NM_197952.1  
    NM_197953.1  

    Unigene Cluster for CLEC7A:

    C-type lectin domain family 7, member A
    Hs.143929  [show with all ESTs]
    Unigene Representative Sequence: NM_197947
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353231 ENST00000534609(uc001qxf.2 uc001qxg.2 uc001qxh.2 uc001qxi.2 uc001qxj.2 uc001qxk.1 uc001qxn.3)
    ENST00000529761(uc001qxe.3) ENST00000298523 ENST00000396484(uc009zhg.1)
    ENST00000304084 ENST00000465100 ENST00000349926 ENST00000533022 ENST00000531192(uc021qva.1)
    ENST00000528799(uc021quz.1) ENST00000310002 ENST00000525605
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA sequence: 

    AF313468.1 AF313469.1 AF400595.1 AF400596.1 AF400597.1 AF400598.1 AF400599.1 AJ312372.1 
    AJ312373.1 AK294111.1 AK295108.1 AK297028.1 AK298679.1 AK298724.1 AK313247.1 AY009090.2 
    AY026769.2 AY026770.2 AY026771.1 AY359002.1 BC013385.1 BC071746.1 BC093829.1 BC093831.1 

    10 DOTS entries:

    DT.430109  DT.92039763  DT.100815542  DT.101965064  DT.95272729  DT.95272734  DT.97838632  DT.40309927 
    DT.121180571  DT.92419093 

    24/66 AceView cDNA sequences (see all 66):

    NM_197949 NM_197951 NM_197948 AI708851 NM_197953 NM_197952 AF400597 AJ312373 
    AI209158 AY026771 AY026770 BM280423 AF400596 BC013385 NM_197950 AF400601 
    BX479704 AI207390 AA535015 BX458753 AF400602 AY026769 NM_022570 AF400600 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CLEC7A (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d
    SP1:                    -     -                 -     -     -                 -     -                                 
    SP2:                                            -     -     -                 -     -                                 
    SP3:                                            -     -     -     -           -     -                                 
    SP4:                                            -     -     -     -           -           -                           
    SP5:                                            -     -     -     -           -     -     -                           


    ECgene alternative splicing isoforms for CLEC7A

    (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

    CLEC7A expression in normal human tissues (normalized intensities)      CLEC7A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTGATTTG
    CLEC7A Expression
    About this image


    CLEC7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
             neutrophils   
     
     Spinal Cord (Nervous System)
             Superior Cervical Ganglion   
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer

    See CLEC7A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLEC7A

    SOURCE GeneReport for Unigene cluster: Hs.143929

    UniProtKB/Swiss-Prot: CLC7A_HUMAN, Q9BXN2
    Tissue specificity: Highly expressed in peripheral blood leukocytes and dendritic cells. Detected in spleen, bone
    marrow, lung, muscle, stomach and placenta

        SABiosciences Expression via Pathway-Focused PCR Arrays including CLEC7A: 
              Th17 Response in human mouse rat
              Antigen Presenting Cells in human mouse rat
              Antifungal Response in human mouse rat

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    (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 human and mouse.

    Orthologs for CLEC7A gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clec7a1 , 5 C-type lectin domain family 7, member a1, 5 73.25(n)1
    61.73(a)1
      6 (63.34 cM)5
    566441  NM_020008.21  NP_064392.21 
     1294615915 


    ENSEMBL Gene Tree for CLEC7A (if available)
    TreeFam Gene Tree for CLEC7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLEC7A gene
    OLR12  CLEC9A2  CLEC1B2  CLEC12B2  CLEC12A2  CLEC1A2  
    3 SIMAP similar genes for CLEC7A using alignment to 1 protein entry:     CLC7A_HUMAN:
    DKFZp686L24211    OLR1    CLEC1B

    CLEC7A 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

    UniProtKB/Swiss-Prot: CLC7A_HUMAN, Q9BXN2
    Polymorphism: A stop polymorphism at position 238 may be associated with invasive aspergillosis following
    hematopoietic stem cell transplantation. The risk is highest when the polymorphism is present in both donors and
    recipients [MIM:614079]


    10/477 SNPs in CLEC7A are shown (see all 477)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs169105261,2
    C,F,Hpathogenic110144181(-) TCATAT/GAGTAT 8 /* /Y stg1 ut3121Minor allele frequency- G:0.06NA NS EA CSA EU 8094
    rs112932511,2
    C--10016508(+) TTTTTC/TTTTTT 5 -- int1 trp31Minor allele frequency- T:0.00WA 2
    rs1133216081,2
    F--10142058(+) GATCTT/ATCTCT 5 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs1871646061,2
    --10142103(+) TCATTC/TATTTA 5 -- ds50010--------
    rs1464248851,2
    C--10142111(+) TTATT-/TATG  
            
    TATGT
    5 -- ds50010--------
    rs1121332111,2
    C--10142130(+) TAATTG/CTACTT 5 -- ds50011Minor allele frequency- C:0.50CSA 2
    rs1459627671,2
    --10142186(+) GTATAC/TATGTG 5 -- ds50010--------
    rs1387953481,2
    C--10142213(+) CACCTA/CTCTAT 5 -- ds50010--------
    rs720345771,2
    C--10142301(+) CTTTA-/TCTTC 
            
    TCTTA
    5 -- ds50010--------
    rs1414752311,2
    --10142331(+) TAAGAA/TCGCGA 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for CLEC7A (10269376 - 10282868 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CLEC7A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv898757CNV Gain21882294


    Human Gene Mutation Database (HGMD): CLEC7A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606264   
    OMIM disorders: 613108  
    UniProtKB/Swiss-Prot: CLC7A_HUMAN, Q9BXN2
  • Familial candidiasis 4 (CANDF4) [MIM:613108]: A primary immunodeficiency disorder with altered immune
    responses and impaired clearance of fungal infections, selective against Candida. It is characterized by
    persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus
    Candida, mainly Candida albicans. Note=The disease may be caused by mutations affecting the gene represented in
    this entry

  • 18 diseases for CLEC7A:    About MalaCards
    invasive aspergillosis    transient arthritis    coccidioidomycosis    histoplasmosis
    mycobacterium abscessus    aspergillosis    hematopoietic stem cell transplantation    candidiasis
    acute graft versus host disease    eczema    influenza    graft versus host disease
    tuberculosis    arthritis    hepatitis b    rheumatoid arthritis
    endotheliitis    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for CLEC7A:
    Coccidioidomycosis     Transient arthritis

    CLEC7A for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CLEC7A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 27.9 2 8751898 (1), 1334474 (1)
    tumors 1.3 2 8751898 (1), 1334474 (1)
    tuberculosis 0 1 2108212 (1)

    Genetic Association Database (GAD): CLEC7A
    Human Genome Epidemiology (HuGE) Navigator: CLEC7A (7 documents)

    Export disorders for CLEC7A 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 CLEC7A gene, integrated from 9 sources (see all 116):
    (articles sorted by number of sources associating them with CLEC7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dectin-1 Y238X polymorphism associates with susceptib ility to invasive aspergillosis in hematopoietic transplantation through impair ment of both recipient- and donor-dependent mechanisms of antifungal immunity. (PubMed id 20807886)1, 2, 4 Cunha C....Carvalho A. (2010)
    2. Characterization of the human beta-glucan receptor and its alternatively spliced isoforms. (PubMed id 11567029)1, 2, 9 Willment J.A.... Brown G.D. (2001)
    3. Identification of a human homologue of the dendritic cell-associated C-type lectin-1, dectin-1. (PubMed id 11470510)1, 2, 9 Yokota K.... Ariizumi K. (2001)
    4. The Y238X stop codon polymorphism in the human I^-gluc an receptor dectin-1 and susceptibility to invasive aspergillosis. (PubMed id 21242599)1, 4 Chai L.Y....Netea M.G. (2011)
    5. Genetic variation of innate immune genes in HIV-infec ted african patients with or without oropharyngeal candidiasis. (PubMed id 20577092)1, 4 Plantinga T.S....Netea M.G. (2010)
    6. The incidence of acute graft-versus-host disease incr eases with Candida colonization depending the dectin-1 gene status. (PubMed id 20452827)1, 4 van der Velden W.J....Blijlevens N.M. (2010)
    7. Early stop polymorphism in human DECTIN-1 is associat ed with increased candida colonization in hematopoietic stem cell transplant re cipients. (PubMed id 19614557)1, 4 Plantinga T.S....Netea M.G. (2009)
    8. Genetic association analysis of the functional c.714T >G polymorphism and mucosal expression of dectin-1 in inflammatory bowel dis ease. (PubMed id 19915667)1, 4 de Vries H.S....de Jong D.J. (2009)
    9. Human dectin-1 deficiency and mucocutaneous fungal in fections. (PubMed id 19864674)1, 2 Ferwerda B....Netea M.G. (2009)
    10. Human Dectin-1 isoform E is a cytoplasmic protein and interacts with RanBPM. (PubMed id 16870151)1, 2 Xie J.... Gu J. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 64581 HGNC: 14558 AceView: CLECSF12 Ensembl:ENSG00000172243 euGenes: HUgn64581
    ECgene: CLEC7A Kegg: 64581 H-InvDB: CLEC7A

    (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 CLEC7A 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 CLEC7A gene:
    Search GeneIP for patents involving CLEC7A

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



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