Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CLEC7A Gene

Aliases for CLEC7A Gene

  • C-Type Lectin Domain Containing 7A 2 3
  • C-Type Lectin Domain Family 7 Member A 2 3 5
  • C-Type (Calcium Dependent, Carbohydrate-Recognition Domain) Lectin, Superfamily Member 12 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
  • Dendritic Cell-Associated C-Type Lectin 1 4
  • C-Type Lectin Domain Family 7, Member A 2
  • Lectin-Like Receptor 1 3
  • CANDF4 3
  • SCARE2 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
  • GC12M010770
  • GC12M011010
  • GC12M011298

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 Containing 7A) is a Protein Coding gene. Diseases associated with CLEC7A include Candidiasis, Familial, 4, Autosomal Recessive and Aspergillosis. Among its related pathways are Toll-Like receptor Signaling Pathways and CLEC7A (Dectin-1) signaling. GO annotations related to this gene include carbohydrate binding and signaling pattern recognition receptor activity. An important paralog of this gene is OLR1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLEC7A Gene

Genomics for CLEC7A Gene

Regulatory Elements for CLEC7A Gene

Enhancers for CLEC7A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G010127 1.5 FANTOM5 Ensembl ENCODE 45.3 +1.1 1137 3.5 TBL1XR1 TAF1 BACH1 BMI1 RELA ZNF316 ARID3A EED ETV6 RELB CLEC7A OLR1 CLEC12A CLEC2B GABARAPL1 CD69 LOC105369655
GH12G010066 1.6 FANTOM5 Ensembl ENCODE dbSUPER 25 +62.1 62067 4.2 PKNOX1 JUN MAX CEBPG YY1 GATA3 GATA2 POLR2A FOS MAFK CLEC7A LINC02470 CLEC2B CLEC12A OLR1 RN7SKP161 ENSG00000256626
GH12G009756 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +369.0 368995 10.0 HDGF PKNOX1 ATF1 ARNT WRNIP1 SIN3A TCF12 GATA2 ELK1 CBX5 CD69 CLECL1 KLRF1 CLEC7A OLR1 KLRB1 CLEC12A ENSG00000213443 DDX12P PZP
GH12G009942 1.5 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +186.6 186574 2.2 MAZ RNF2 SP2 REST ZSCAN21 HIC1 ZNF366 GLIS1 PATZ1 ZNF629 OLR1 LINC02470 CLEC12A CLEC7A CLEC1B GABARAPL1 CD69
GH12G010119 0.9 FANTOM5 Ensembl 26 +9.8 9759 3.0 MAX CEBPB CEBPG NFE2 KDM1A MYC NFE2L2 CLEC7A CLEC12A CLEC2B CLEC9A OLR1 GABARAPL1 KLRD1 CLEC1B LOC105369655
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CLEC7A on UCSC Golden Path with GeneCards custom track

Promoters for CLEC7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000048689 173 201 TBL1XR1 BACH1 BMI1 RELA ARID3A EED ETV6 RELB IKZF2 CREM

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

Post-translational modifications for CLEC7A Gene

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

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

No data available for UniProtKB/Swiss-Prot for CLEC7A Gene

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,IEA 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

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

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLEC7A gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 2
cytosol 2
lysosome 2
endosome 1

Gene Ontology (GO) - Cellular Components for CLEC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS 11567029
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:0002221 pattern recognition receptor signaling pathway IEA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002366 leukocyte activation involved in immune response IEA --
GO:0002376 immune system process IEA --
GO:0006910 phagocytosis, recognition IDA 11567029
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

(3) Drugs for CLEC7A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CLEC7A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLEC7A Gene:

CLEC7A

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.

Evidence on tissue expression from TISSUES for CLEC7A Gene

  • Blood(4.7)
  • Spleen(4.7)
  • Lymph node(4.6)
  • Lung(4.5)
  • Intestine(4.4)
  • Bone marrow(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLEC7A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • reproductive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • esophagus
  • thymus
Abdomen:
  • liver
  • spleen
Pelvis:
  • vagina
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CLEC7A: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia CLEC7A 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia CLEC7A 34 35
  • 83.88 (n)
cow
(Bos Taurus)
Mammalia CLEC7A 34 35
  • 81.65 (n)
mouse
(Mus musculus)
Mammalia Clec7a 34 16 35
  • 73.09 (n)
rat
(Rattus norvegicus)
Mammalia Clec7a 34
  • 72.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CLEC7A 35
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 39 (a)
OneToMany
Species where no ortholog for CLEC7A was found in the sources mined by GeneCards:
  • 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

CLC7A_HUMAN-Q9BXN2
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
rs16910526 Pathogenic 10,118,488(-) TCATA(C/G/T)AGTAT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, utr-variant-3-prime, stop-gained
rs1000246367 -- 10,120,840(+) ACCTC(C/T)GTCTC intron-variant
rs1000639809 -- 10,132,178(+) CAGGC(A/G/T)CCCGC intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1000642813 -- 10,128,125(+) CCCAG(C/G)TACTC intron-variant
rs1000722247 -- 10,120,680(+) GCCTC(A/G)GCCTC intron-variant

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

Human Gene Mutation Database (HGMD)
CLEC7A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLEC7A

No data available for Structural Variations from Database of Genomic Variants (DGV) for CLEC7A Gene

Disorders for CLEC7A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
candidiasis, familial, 4, autosomal recessive
  • candidiasis, familial 4
aspergillosis
  • aspergillosis, susceptibility to
chronic mucocutaneous candidiasis
  • cmc
invasive aspergillosis
  • aspergillosis invasive
primary systemic mycosis
- 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 46 64
  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 22 64
  3. 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 22 64
  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 46 64
  5. Genetic variation of innate immune genes in HIV-infected african patients with or without oropharyngeal candidiasis. (PMID: 20577092) Plantinga T.S. … Netea M.G. (J. Acquir. Immune Defic. Syndr. 2010) 3 46 64

Products for CLEC7A Gene

Sources for CLEC7A Gene

Content
Loading form....