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Aliases for CLEC2A Gene

Aliases for CLEC2A Gene

  • C-Type Lectin Domain Family 2 Member A 2 3 5
  • Proliferation-Induced Lymphocyte-Associated Receptor 2 3 4
  • Keratinocyte-Associated C-Type Lectin 2 3 4
  • PILAR 3 4
  • KACL 3 4
  • C-Type Lectin Domain Family 2, Member A 2
  • INPE5792 3
  • UNQ5792 3

External Ids for CLEC2A Gene

Previous GeneCards Identifiers for CLEC2A Gene

  • GC12M009943
  • GC12U901034
  • GC12M010051
  • GC12M009808
  • GC12M009899
  • GC12M010391
  • GC12M010763
  • GC12M010997
  • GC12M011292

Summaries for CLEC2A Gene

Entrez Gene Summary for CLEC2A Gene

  • CLEC2A belongs to the CLEC2 family of activation-induced, natural killer gene complex-encoded C-type lectin-like receptors (Spreu et al., 2007 [PubMed 18046548]).[supplied by OMIM, May 2008]

GeneCards Summary for CLEC2A Gene

CLEC2A (C-Type Lectin Domain Family 2 Member A) is a Protein Coding gene. Diseases associated with CLEC2A include Pilar Sheath Acanthoma and Leiomyoma Cutis. GO annotations related to this gene include protein homodimerization activity and carbohydrate binding. An important paralog of this gene is CLEC2D.

UniProtKB/Swiss-Prot for CLEC2A Gene

  • Plays a role in modulating the extent of T-cell expansion. Enhances the expansion of TCR-stimulated T-cells by increasing their survival through enhanced expression of anti-apoptotic proteins. May modulate the capacity of T-cells to home to lymph nodes through SELL. Facilitates dedicated immune recognition of keratinocytes via interaction with its receptor KLRF2 by stimulating natural killer cell mediated cytotoxicity.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLEC2A Gene

Genomics for CLEC2A Gene

Regulatory Elements for CLEC2A Gene

Enhancers for CLEC2A 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
GH12G009864 1.1 ENCODE dbSUPER 8.1 +63.5 63467 8.4 TBP BMI1 YY1 GATA2 FOS CREM USF2 CEBPB TBX21 MAFF LINC02470 CLEC2A ENSG00000255882 CLEC12A ENSG00000214776 CLEC2B
GH12G009720 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +205.2 205196 13.1 PKNOX1 FOXA2 CBX5 FOS JUNB TBX21 SMARCA4 PBX2 STAT3 NBN CLECL1 KLRB1 ENSG00000213443 ENSG00000257027 OLR1 CLEC12A CD69 CLEC7A LINC02367 LOC374443
GH12G009773 1.1 FANTOM5 ENCODE dbSUPER 2 +158.7 158693 0.3 CTCF ZNF654 SMC3 REST HNF4A RAD21 CD69 CLECL1 CLEC2A LOC105369653 LOC100419929
GH12G009905 0.4 FANTOM5 3.1 +26.5 26477 0.2 ZBTB17 CLEC2A CLEC1B GC12P009886
GH12G009925 0.8 Ensembl ENCODE 0.4 +6.5 6539 0.5 CTCF ZNF654 SMC3 HNF4A REST RAD21 CLEC2A GC12P009886
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CLEC2A on UCSC Golden Path with GeneCards custom track

Genomic Location for CLEC2A Gene

Chromosome:
12
Start:
9,880,903 bp from pter
End:
9,932,407 bp from pter
Size:
51,505 bases
Orientation:
Minus strand

Genomic View for CLEC2A Gene

Genes around CLEC2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLEC2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLEC2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLEC2A Gene

Proteins for CLEC2A Gene

  • Protein details for CLEC2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UVW9-CLC2A_HUMAN
    Recommended name:
    C-type lectin domain family 2 member A
    Protein Accession:
    Q6UVW9
    Secondary Accessions:
    • A5Y4G5
    • A9QKS2
    • A9QKS3

    Protein attributes for CLEC2A Gene

    Size:
    174 amino acids
    Molecular mass:
    19972 Da
    Quaternary structure:
    • Homodimer; non disulfide-linked. Interacts with KLRB1. Interacts with KLRF2.

    Three dimensional structures from OCA and Proteopedia for CLEC2A Gene

    Alternative splice isoforms for CLEC2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLEC2A Gene

Post-translational modifications for CLEC2A Gene

Other Protein References for CLEC2A Gene

No data available for DME Specific Peptides for CLEC2A Gene

Domains & Families for CLEC2A Gene

Gene Families for CLEC2A Gene

Protein Domains for CLEC2A Gene

Suggested Antigen Peptide Sequences for CLEC2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CLEC2A: view

No data available for UniProtKB/Swiss-Prot for CLEC2A Gene

Function for CLEC2A Gene

Molecular function for CLEC2A Gene

UniProtKB/Swiss-Prot Function:
Plays a role in modulating the extent of T-cell expansion. Enhances the expansion of TCR-stimulated T-cells by increasing their survival through enhanced expression of anti-apoptotic proteins. May modulate the capacity of T-cells to home to lymph nodes through SELL. Facilitates dedicated immune recognition of keratinocytes via interaction with its receptor KLRF2 by stimulating natural killer cell mediated cytotoxicity.
UniProtKB/Swiss-Prot Induction:
By phytohemagglutinin (PHA) in peripheral CD8(+) T cells.

Gene Ontology (GO) - Molecular Function for CLEC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20194751
GO:0030246 carbohydrate binding IEA --
GO:0042803 protein homodimerization activity IDA 20194751
genes like me logo Genes that share ontologies with CLEC2A: view

Phenotypes for CLEC2A Gene

GenomeRNAi human phenotypes for CLEC2A:
genes like me logo Genes that share phenotypes with CLEC2A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CLEC2A Gene

Localization for CLEC2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLEC2A Gene

Cell membrane; Single-pass type II membrane protein.

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 CLEC2A gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 1
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CLEC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLEC2A: view

Pathways & Interactions for CLEC2A Gene

SuperPathways for CLEC2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for CLEC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042267 natural killer cell mediated cytotoxicity TAS 20194751
genes like me logo Genes that share ontologies with CLEC2A: view

No data available for Pathways by source and SIGNOR curated interactions for CLEC2A Gene

Drugs & Compounds for CLEC2A Gene

No Compound Related Data Available

Transcripts for CLEC2A Gene

mRNA/cDNA for CLEC2A Gene

(5) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLEC2A Gene

No ASD Table

Relevant External Links for CLEC2A Gene

GeneLoc Exon Structure for
CLEC2A
ECgene alternative splicing isoforms for
CLEC2A

Expression for CLEC2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLEC2A Gene

mRNA differential expression in normal tissues according to GTEx for CLEC2A Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x28.1) and Skin - Not Sun Exposed (Suprapubic) (x21.2).

NURSA nuclear receptor signaling pathways regulating expression of CLEC2A Gene:

CLEC2A

SOURCE GeneReport for Unigene cluster for CLEC2A Gene:

Hs.527665

mRNA Expression by UniProt/SwissProt for CLEC2A Gene:

Q6UVW9-CLC2A_HUMAN
Tissue specificity: Mainly expressed in skin. Also expressed in keratinocytes, spleen, thymus, small intestine, peripheral blood monocytes, bone marrow, ovary, testis and skin. High expression in CD8(+), B-lymphocytes and naive CD4(+) T-cells. Restricted mostly to proliferating lymphocytes. Not detected in myeloid leukocytes or natural killer (NK) cells.

Evidence on tissue expression from TISSUES for CLEC2A Gene

  • Spleen(4)
  • Skin(3.2)
genes like me logo Genes that share expression patterns with CLEC2A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLEC2A Gene

Orthologs for CLEC2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLEC2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLEC2A 35 34
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CLEC2A 35 34
  • 77.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Clec2f 16 34
  • 53.47 (n)
Clec2i 35
  • 29 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 42 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 26 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 17 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 28 (a)
ManyToMany
-- 35
  • 25 (a)
ManyToMany
-- 35
  • 19 (a)
ManyToMany
Species where no ortholog for CLEC2A 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 CLEC2A Gene

ENSEMBL:
Gene Tree for CLEC2A (if available)
TreeFam:
Gene Tree for CLEC2A (if available)

Paralogs for CLEC2A Gene

Paralogs for CLEC2A Gene

(4) SIMAP similar genes for CLEC2A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CLEC2A: view

Variants for CLEC2A Gene

Sequence variations from dbSNP and Humsavar for CLEC2A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000057303 -- 9,912,845(+) CACTG(C/T)TTCCC intron-variant, downstream-variant-500B
rs1000074056 -- 9,907,621(+) AGAAG(C/G)CAGCT intron-variant
rs1000074847 -- 9,900,239(+) TTTTC(A/T)CGTTA intron-variant
rs1000115796 -- 9,894,491(+) ACCTG(C/T)TTCTT intron-variant
rs1000218250 -- 9,908,098(+) AATTA(C/T)GGGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLEC2A Gene

Variant ID Type Subtype PubMed ID
nsv1044587 CNV loss 25217958
nsv1051530 CNV gain 25217958
nsv523050 CNV loss 19592680

Variation tolerance for CLEC2A Gene

Gene Damage Index Score: 3.52; 55.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLEC2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLEC2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLEC2A Gene

Disorders for CLEC2A Gene

MalaCards: The human disease database

(20) MalaCards diseases for CLEC2A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pilar sheath acanthoma
  • acanthoma, pilar sheath
leiomyoma cutis
  • cutaneous leiomyoma
epidermal appendage tumor
  • neoplasm of skin with adnexal differentiation
inflamed seborrheic keratosis
tinea manuum
  • dermatophytosis of hand
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CLEC2A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLEC2A
genes like me logo Genes that share disorders with CLEC2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLEC2A Gene

Publications for CLEC2A Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
  2. Interaction of C-type lectin-like receptors NKp65 and KACL facilitates dedicated immune recognition of human keratinocytes. (PMID: 20194751) Spreu J. … Steinle A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 64
  3. PILAR is a novel modulator of human T-cell expansion. (PMID: 18550855) Huarte E. … Conejo-Garcia J.R. (Blood 2008) 3 4 64
  4. CLEC2A: a novel, alternatively spliced and skin-associated member of the NKC-encoded AICL-CD69-LLT1 family. (PMID: 18046548) Spreu J. … Steinle A. (Immunogenetics 2007) 3 4 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for CLEC2A Gene

Sources for CLEC2A Gene

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