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Aliases for CLEC7A Gene

Aliases for CLEC7A Gene

  • C-Type Lectin Domain Family 7 Member A 2 3 5
  • 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 Domain Family 7, Member A 2 3
  • 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
  • CLECSF12 3 4
  • DECTIN1 3 4
  • BGR 3 4
  • Dendritic Cell-Associated C-Type Lectin-1 3
  • Lectin-Like Receptor 1 3
  • CANDF4 3
  • CD369 3

External Ids for CLEC7A Gene

Previous HGNC Symbols for CLEC7A Gene

  • CLECSF12

Previous GeneCards Identifiers for CLEC7A Gene

  • GC12M010161
  • GC12M010269
  • GC12M010012
  • GC12M010326
  • GC12M010614

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 candidiasis, familial, 4, autosomal recessive and aspergillosis. Among its related pathways are Immune System and Phagosome. GO annotations related to this gene include carbohydrate binding and signaling pattern recognition receptor activity. 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

Promoters for CLEC7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLEC7A on UCSC Golden Path with GeneCards custom track

Genomic Location for CLEC7A Gene

Chromosome:
12
Start:
10,116,777 bp from pter
End:
10,130,273 bp from pter
Size:
13,497 bases
Orientation:
Minus strand

Genomic View for CLEC7A Gene

Genes around CLEC7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLEC7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 91
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CLEC7A (Dectin-1/CLEC7A)
  • Cell Signaling Technology (CST) Antibodies for CLEC7A (dectin-1)

No data available for DME Specific Peptides for CLEC7A Gene

Domains & Families for CLEC7A Gene

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

Human Phenotype Ontology for CLEC7A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLEC7A Gene

MGI Knock Outs for CLEC7A:

Animal Model Products

  • Taconic Biosciences Mouse Models for CLEC7A

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
nucleus 4

Gene Ontology (GO) - Cellular Components for CLEC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with CLEC7A: view

Pathways & Interactions for CLEC7A Gene

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

Pathways by source for CLEC7A Gene

2 KEGG pathways for CLEC7A Gene
1 Qiagen pathway for CLEC7A Gene

Gene Ontology (GO) - Biological Process for CLEC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008037 cell recognition IDA 11567029
GO:0042832 defense response to protozoan NAS 11567029
GO:0045087 innate immune response IEA,TAS --
GO:0071226 cellular response to molecule of fungal origin IEA --
genes like me logo Genes that share ontologies with CLEC7A: view

No data available for SIGNOR curated interactions for CLEC7A Gene

Drugs & Compounds for CLEC7A Gene

(2) Drugs for CLEC7A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for CLEC7A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x19.0).

Protein differential expression in normal tissues from HIPED for CLEC7A Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CLEC7A: view

Protein tissue co-expression partners for CLEC7A Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CLEC7A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLEC7A Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia CLEC7A 35
  • 99.33 (n)
  • 98.38 (a)
CLEC7A 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clec7a 35
  • 72.48 (n)
  • 58.3 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CLEC7A 36
  • 38 (a)
OneToOne
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

(3) 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
VAR_050111 -

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

Variant ID Type Subtype PubMed ID
nsv898757 CNV Gain 21882294

Variation tolerance for CLEC7A Gene

Residual Variation Intolerance Score: 78.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.17; 69.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLEC7A Gene

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

Disorders for CLEC7A Gene

MalaCards: The human disease database

(11) MalaCards diseases for CLEC7A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
candidiasis, familial, 4, autosomal recessive
  • familial chronic mucocutaneous candidiasis
aspergillosis
  • infection due to aspergillus
chronic mucocutaneous candidiasis
  • cmc
invasive aspergillosis
  • aspergillosis invasive
vulvovaginal candidiasis
  • candidal vulvovaginitis
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CLEC7A

Genetic Association Database (GAD)
CLEC7A
Human Genome Epidemiology (HuGE) Navigator
CLEC7A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLEC7A
genes like me logo Genes that share disorders with CLEC7A: view

No data available for Genatlas for CLEC7A Gene

Publications for CLEC7A Gene

  1. 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 67
  2. Complement receptor 3, not Dectin-1, is the major receptor on human neutrophils for beta-glucan-bearing particles. (PMID: 19811837) van Bruggen R. … Kuijpers T.W. (Mol. Immunol. 2009) 3 23
  3. The human beta-glucan receptor is widely expressed and functionally equivalent to murine Dectin-1 on primary cells. (PMID: 15816015) Willment J.A. … Brown G.D. (Eur. J. Immunol. 2005) 3 23
  4. Nontypeable Haemophilus influenzae activates human eosinophils through beta-glucan receptors. (PMID: 12689921) AhrAcn I.L. … Riesbeck K. (Am. J. Respir. Cell Mol. Biol. 2003) 3 23
  5. 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 23

Products for CLEC7A Gene

Sources for CLEC7A Gene

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