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Aliases for CLEC7A Gene

Aliases for CLEC7A Gene

  • C-Type Lectin Domain Family 7, Member A 2 3
  • CLECSF12 3 4 6
  • DECTIN1 3 4 6
  • C-Type (Calcium Dependent, Carbohydrate-Recognition Domain) Lectin, Superfamily Member 12 2 3
  • Dendritic Cell-Associated C-Type Lectin 1 3 4
  • C-Type Lectin Superfamily Member 12 3 4
  • DC-Associated C-Type Lectin 1 3 4
  • Beta-Glucan Receptor 3 4
  • Dectin-1 3 4
  • CANDF4 3 6
  • BGR 3 4
  • Dendritic Cell-Associated C-Type Lectin-1 3
  • C-Type Lectin Domain Family 7 Member A 3
  • Lectin-Like Receptor 1 3

External Ids for CLEC7A Gene

Previous HGNC Symbols for CLEC7A Gene

  • CLECSF12

Previous GeneCards Identifiers for CLEC7A Gene

  • GC12M010161
  • GC12M010269
  • GC12M010012

Summaries for CLEC7A Gene

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 aspergillosis and candidiasis, familial, 4, autosomal recessive. Among its related pathways are NOD-like Receptor Signaling Pathways and Tuberculosis. GO annotations related to this gene include carbohydrate binding and MHC protein binding. An important paralog of this gene is CLEC12A.

UniProtKB/Swiss-Prot for CLEC7A Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLEC7A Gene

Genomics for CLEC7A Gene

Regulatory Elements for CLEC7A Gene

Genomic Location for CLEC7A Gene

Start:
10,116,777 bp from pter
End:
10,130,269 bp from pter
Size:
13,493 bases
Orientation:
Minus strand

Genomic View for CLEC7A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLEC7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLEC7A Gene

Proteins for CLEC7A Gene

  • Protein details for CLEC7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXN2-CLC7A_HUMAN
    Recommended name:
    C-type lectin domain family 7 member A
    Protein Accession:
    Q9BXN2
    Secondary Accessions:
    • B2R861
    • B7Z494
    • B7Z5A9
    • B7Z5B9
    • Q6IPS7
    • Q96D32
    • Q96DR9
    • Q96LD3
    • Q96PA4
    • Q96PA5
    • Q96PA6
    • Q96PA7
    • Q96PA8
    • Q9H1K3

    Protein attributes for CLEC7A Gene

    Size:
    247 amino acids
    Molecular mass:
    27627 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with SYK; participates in leukocyte activation in presence of fungal pathogens (By similarity). Isoform 5 interacts with RANBP9.

    Alternative splice isoforms for CLEC7A Gene

neXtProt entry for CLEC7A Gene

Proteomics data for CLEC7A Gene at MOPED

Post-translational modifications for CLEC7A Gene

  • Phosphorylated on tyrosine residues in response to glucan binding.
  • Glycosylation at Asn91
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CLEC7A Gene

Domains for CLEC7A Gene

Gene Families for CLEC7A Gene

HGNC:
  • CLEC :C-type lectin domain containing

Protein Domains for CLEC7A Gene

Suggested Antigen Peptide Sequences for CLEC7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXN2

UniProtKB/Swiss-Prot:

CLC7A_HUMAN :
  • Q9BXN2
Domain:
  • Contains 1 C-type lectin domain.
genes like me logo Genes that share domains with CLEC7A: view

Function for CLEC7A Gene

Molecular function for CLEC7A Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction: Up-regulated during differentiation from monocytes into dendritic cells.

Gene Ontology (GO) - Molecular Function for CLEC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0008329 signaling pattern recognition receptor activity IDA 11567029
GO:0030246 carbohydrate binding IDA 11567029
GO:0042287 MHC protein binding NAS 11567029
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CLEC7A: view
genes like me logo Genes that share phenotypes with CLEC7A: view

Animal Models for CLEC7A Gene

MGI Knock Outs for CLEC7A:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CLEC7A Gene

Localization for CLEC7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLEC7A Gene

Cell membrane; Single-pass type II membrane protein.
Isoform 5: Cytoplasm.
Isoform 6: Cytoplasm.
Isoform 7: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLEC7A Gene COMPARTMENTS Subcellular localization image for CLEC7A gene
Compartment Confidence
plasma membrane 5
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CLEC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane TAS 11567029
genes like me logo Genes that share ontologies with CLEC7A: view

Pathways for CLEC7A Gene

genes like me logo Genes that share pathways with CLEC7A: view

Pathways by source for CLEC7A Gene

1 Qiagen pathway for CLEC7A Gene
1 Cell Signaling Technology pathway for CLEC7A Gene
2 KEGG pathways for CLEC7A Gene

Gene Ontology (GO) - Biological Process for CLEC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002221 pattern recognition receptor signaling pathway IDA 11567029
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006910 phagocytosis, recognition IDA 11567029
GO:0006954 inflammatory response IEA --
GO:0008037 cell recognition IDA 11567029
genes like me logo Genes that share ontologies with CLEC7A: view

Compounds for CLEC7A Gene

(6) Novoseek inferred chemical compound relationships for CLEC7A Gene

Compound -log(P) Hits PubMed IDs
laminarin 82.7 1
zymosan 79.6 5
mannose 73.3 11
glucose 23.6 3
tyrosine 19.1 1
genes like me logo Genes that share compounds with CLEC7A: view

Transcripts for CLEC7A Gene

Unigene Clusters for CLEC7A Gene

C-type lectin domain family 7, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLEC7A Gene

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: - - - - - - -
SP6: - -
SP7: - -
SP8: - - - -
SP9:

Relevant External Links for CLEC7A Gene

GeneLoc Exon Structure for
CLEC7A
ECgene alternative splicing isoforms for
CLEC7A

Expression for CLEC7A Gene

mRNA expression in normal human tissues for CLEC7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLEC7A Gene

This gene is overexpressed in Whole Blood (19.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CLEC7A Gene

SOURCE GeneReport for Unigene cluster for CLEC7A Gene Hs.143929

mRNA Expression by UniProt/SwissProt for CLEC7A Gene

Q9BXN2-CLC7A_HUMAN
Tissue specificity: Highly expressed in peripheral blood leukocytes and dendritic cells. Detected in spleen, bone marrow, lung, muscle, stomach and placenta.
genes like me logo Genes that share expressions with CLEC7A: view

Orthologs for CLEC7A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLEC7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLEC7A 35
  • 99.33 (n)
  • 98.38 (a)
CLEC7A 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLEC7A 35
  • 81.65 (n)
  • 73.68 (a)
CLEC7A 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLEC7A 35
  • 83.88 (n)
  • 74.39 (a)
CLEC7A 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clec7a 35
  • 73.09 (n)
  • 61.48 (a)
Clec7a 16
Clec7a 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLEC7A 36
  • 38 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clec7a 35
  • 72.48 (n)
  • 58.3 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 39 (a)
OneToMany
Species with no ortholog for CLEC7A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CLEC7A Gene

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

Paralogs for CLEC7A Gene

Paralogs for CLEC7A Gene

Selected SIMAP similar genes for CLEC7A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CLEC7A: view

Variants for CLEC7A Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CLEC7A Gene

Q9BXN2-CLC7A_HUMAN
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]

Sequence variations from dbSNP and Humsavar for CLEC7A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs2078178 -- 10,123,963(-) GACTG(C/T)CATCT intron-variant
rs3053817 -- 10,124,048(-) AGTAC(-/TTC)TTAAC intron-variant
rs3901532 -- 10,124,572(-) ACCCT(A/G)CTATC intron-variant
rs3901533 -- 10,124,484(-) TAAAT(G/T)CTATA intron-variant
rs4763446 -- 10,125,968(+) TTGAA(C/T)TGAAA intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CLEC7A Gene

Variant ID Type Subtype PubMed ID
nsv898757 CNV Gain 21882294

Relevant External Links for CLEC7A Gene

HapMap Linkage Disequilibrium report
CLEC7A
Human Gene Mutation Database (HGMD)
CLEC7A

Disorders for CLEC7A Gene

(2) OMIM Diseases for CLEC7A Gene (606264)

UniProtKB/Swiss-Prot

CLC7A_HUMAN
  • Candidiasis, familial, 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. {ECO:0000269 PubMed:19864674}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CLEC7A Gene

(3) Novoseek inferred disease relationships for CLEC7A Gene

Disease -log(P) Hits PubMed IDs
necrosis 27.9 2
tumors 1.3 2
tuberculosis 0 1

Relevant External Links for CLEC7A

Genetic Association Database (GAD)
CLEC7A
Human Genome Epidemiology (HuGE) Navigator
CLEC7A
genes like me logo Genes that share disorders with CLEC7A: view

Publications for CLEC7A Gene

  1. Characterization of the human beta-glucan receptor and its alternatively spliced isoforms. (PMID: 11567029) Willment J.A. … Brown G.D. (J. Biol. Chem. 2001) 3 4 23
  2. Identification of a human homologue of the dendritic cell-associated C-type lectin-1, dectin-1. (PMID: 11470510) Yokota K. … Ariizumi K. (Gene 2001) 3 4 23
  3. Dectin-1 Y238X polymorphism associates with susceptibility to invasive aspergillosis in hematopoietic transplantation through impairment of both recipient- and donor-dependent mechanisms of antifungal immunity. (PMID: 20807886) Cunha C. … Carvalho A. (Blood 2010) 3 4 48
  4. The Y238X stop codon polymorphism in the human I^-glucan receptor dectin-1 and susceptibility to invasive aspergillosis. (PMID: 21242599) Chai L.Y. … Netea M.G. (J. Infect. Dis. 2011) 3 48
  5. The incidence of acute graft-versus-host disease increases with Candida colonization depending the dectin-1 gene status. (PMID: 20452827) van der Velden W.J. … Blijlevens N.M. (Clin. Immunol. 2010) 3 48

Products for CLEC7A Gene

Sources for CLEC7A Gene

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