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] See more...

Aliases for CLEC2A Gene

Aliases for CLEC2A Gene

  • C-Type Lectin Domain Family 2 Member A 2 3 4 5
  • Proliferation-Induced Lymphocyte-Associated Receptor 2 3 4
  • Keratinocyte-Associated C-Type Lectin 2 3 4
  • PILAR 2 3 4
  • KACL 2 3 4
  • INPE5792 2 3
  • UNQ5792 2 3
  • C-Type Lectin Domain Family 2, Member A 2
  • CLEC2A 5

External Ids for CLEC2A Gene

Previous GeneCards Identifiers for CLEC2A Gene

  • GC12M009943
  • GC12U901034
  • GC12M010051
  • GC12M009808
  • GC12M009899
  • GC12M010391
  • GC12M012405
  • GC12M012623
  • GC12M012780
  • GC12M013364
  • GC12M010763
  • GC12M010997
  • GC12M011292
  • GC12M011527
  • GC12M011721
  • GC12M011908
  • GC12M012094
  • GC12M012270

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 Malignant Syringoma and Eccrine Sweat Gland Cancer. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and carbohydrate binding. An important paralog of this gene is CD69.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for CLEC2A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLEC2A Gene

Genomics for CLEC2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLEC2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J009932 Promoter 0.3 EPDnew 600.7 +0.0 42 0.1 CLEC2A CLEC12A-AS1 KLRF1 CLEC9A ENSG00000256803 piR-32214-109 KLRF2
GH12J009864 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 8.1 +63.4 63449 8.4 PRDM10 REST CEBPB ZSCAN29 ZNF316 JUN MAFF ATF3 FOS YY1 ENSG00000255882 CLEC2B lnc-CLEC2A-3 LINC02470 CLEC2A CLEC12A ENSG00000214776 KLRF1
GH12J009720 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.7 +205.2 205218 13.1 CEBPG CREB1 IKZF1 BACH1 PRDM1 RELA SMAD5 TCF12 REST IKZF2 CLECL1 KLRB1 ENSG00000213443 ENSG00000257027 OLR1 CLEC12A CD69 CLEC7A LINC02367 ENSG00000256594
GH12J009905 Enhancer 0.6 FANTOM5 Ensembl ENCODE 3.1 +25.5 25520 2.2 POLR2A CLEC12A CLEC2B CLEC2A CLEC1B piR-32214-109 KLRF2
GH12J009880 Enhancer 0.2 Ensembl 6.7 +51.6 51629 0.8 HSALNG0089180 KLRF2 KLRF1 CLEC2A piR-58297-099 CLEC2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLEC2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLEC2A

Top Transcription factor binding sites by QIAGEN in the CLEC2A gene promoter:
  • AP-1
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • HNF-1
  • HNF-1A
  • ISGF-3
  • POU2F1
  • POU2F1a

Genomic Locations for CLEC2A Gene

Genomic Locations for CLEC2A Gene
chr12:9,882,733-9,932,430
(GRCh38/hg38)
Size:
49,698 bases
Orientation:
Minus strand
chr12:10,051,272-10,084,980
(GRCh37/hg19)
Size:
33,709 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CLEC2A Gene

Suggested Antigen Peptide Sequences for CLEC2A Gene

GenScript: Design optimal peptide antigens:
  • Proliferation-induced lymphocyte-associated receptor (CLC2A_HUMAN)
genes like me logo Genes that share domains with CLEC2A: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for CLEC2A Gene

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLEC2A

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 3
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLEC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,IDA --
GO:0009897 external side of plasma membrane IBA 21873635
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

PathCards logo

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

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLEC2A

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

No ASD Table

Relevant External Links for CLEC2A Gene

GeneLoc Exon Structure for
CLEC2A

Expression for CLEC2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.2)
  • Skin(3.1)
  • Nervous system(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 30 31
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLEC2A 30 31
  • 77.19 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Clec2f 30 17
  • 53.47 (n)
Clec2i 31
  • 29 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 42 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 26 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 17 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 24 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 28 (a)
ManyToMany
-- 31
  • 25 (a)
ManyToMany
-- 31
  • 19 (a)
ManyToMany
Species where no ortholog for CLEC2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CLEC2A: view image

Paralogs for CLEC2A Gene

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

  • CLC2A_HUMAN
genes like me logo Genes that share paralogs with CLEC2A: view

Variants for CLEC2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLEC2A Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs526680 - p.Gly136Asp

Additional dbSNP identifiers (rs#s) for CLEC2A Gene

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)

Additional Variant Information 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

(67) MalaCards diseases for CLEC2A Gene - From: DISEASES

Disorder Aliases PubMed IDs
malignant syringoma
  • microcystic adnexal carcinoma
eccrine sweat gland cancer
  • malignant eccrine skin neoplasm
pilar sheath acanthoma
  • acanthoma, pilar sheath
dartoic leiomyoma
  • dartoic myoma
inverted follicular keratosis
  • seborrheic keratosis
- elite association - COSMIC cancer census association via MalaCards
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 HF … Gray A (Genome research 2003) 2 3 4
  2. Interaction of C-type lectin-like receptors NKp65 and KACL facilitates dedicated immune recognition of human keratinocytes. (PMID: 20194751) Spreu J … Steinle A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  3. PILAR is a novel modulator of human T-cell expansion. (PMID: 18550855) Huarte E … Conejo-Garcia JR (Blood 2008) 3 4
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CLEC2A Gene

Sources for CLEC2A Gene