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    CLEC2A C-type lectin domain family 2 member A [ Homo sapiens (human) ]

    Gene ID: 387836, updated on 17-Jun-2024

    Summary

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    Official Symbol
    CLEC2Aprovided by HGNC
    Official Full Name
    C-type lectin domain family 2 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:24191
    See related
    Ensembl:ENSG00000188393 MIM:612087; AllianceGenome:HGNC:24191
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KACL; PILAR; UNQ5792; INPE5792
    Summary
    Enables protein homodimerization activity. Predicted to be involved in natural killer cell mediated cytotoxicity. Predicted to act upstream of or within several processes, including T cell receptor signaling pathway; regulation of actin filament polymerization; and regulation of interleukin-2 production. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward skin (RPKM 6.7) See more
    Orthologs
    all
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    Genomic context

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    See CLEC2A in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (9877742..9932370, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (9767385..9818588, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10051275..10084969, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene killer cell lectin like receptor F1 Neighboring gene GCNA pseudogene 1 Neighboring gene C-type lectin domain family 2 member B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:10051719-10052273 Neighboring gene MPRA-validated peak1567 silencer Neighboring gene killer cell lectin like receptor F2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:10062769-10063968 Neighboring gene long intergenic non-protein coding RNA 2470 Neighboring gene CLEC12A antisense RNA 1 Neighboring gene uncharacterized LOC124902874 Neighboring gene C-type lectin domain family 12 member A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum. Gonçalves-Maia M, et al. J Invest Dermatol, 2020 Sep. PMID 32061658
    2. A Comprehensive Tyrosine Phosphoproteomic Analysis Reveals Novel Components of the Platelet CLEC-2 Signaling Cascade. Izquierdo I, et al. Thromb Haemost, 2020 Feb. PMID 31901221
    3. PDGF upregulates CLEC-2 to induce T regulatory cells. Agrawal S, et al. Oncotarget, 2015 Oct 6. PMID 26416420, Free PMC Article
    4. CLEC-2 expression is maintained on activated platelets and on platelet microparticles. Gitz E, et al. Blood, 2014 Oct 2. PMID 25150298, Free PMC Article
    5. CLEC2A: a novel, alternatively spliced and skin-associated member of the NKC-encoded AICL-CD69-LLT1 family. Spreu J, et al. Immunogenetics, 2007 Dec. PMID 18046548

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum.
      Title: NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum.
    2. A Comprehensive Tyrosine Phosphoproteomic Analysis Reveals Novel Components of the Platelet CLEC-2 Signaling Cascade.
      Title: A Comprehensive Tyrosine Phosphoproteomic Analysis Reveals Novel Components of the Platelet CLEC-2 Signaling Cascade.
    3. Review of C-type lectin-like receptor 2 and podoplanin interactions [review]
      Title: Physiologic and pathophysiologic roles of interaction between C-type lectin-like receptor 2 and podoplanin: partners from in utero to adulthood.
    4. PDGF upregulates the expression of CLEC-2 on dendritic cells to induce T regulatory cells.
      Title: PDGF upregulates CLEC-2 to induce T regulatory cells.
    5. Key residues at the membrane-distal surface of KACL, but not glycosylation, determine the functional interaction of the keratinocyte-specific C-type lectin-like receptor KACL with its high-affinity receptor NKp65
      Title: Key residues at the membrane-distal surface of KACL, but not glycosylation, determine the functional interaction of the keratinocyte-specific C-type lectin-like receptor KACL with its high-affinity receptor NKp65.
    6. CLEC-2, unlike platelet ITAM receptors, is not regulated by proteolysis and can be used to monitor platelet-derived microparticles
      Title: CLEC-2 expression is maintained on activated platelets and on platelet microparticles.
    7. Keratinocytes express KACL and are capable of stimulating NKp65-expressing cells in a KACL-dependent manner.
      Title: Interaction of C-type lectin-like receptors NKp65 and KACL facilitates dedicated immune recognition of human keratinocytes.
    8. CLEC-2 is the receptor for podoplanin, a sialoglycoprotein implicated in tumor-induced platelet aggregation and tumor metastasis[review]
      Title: Novel interactions in platelet biology: CLEC-2/podoplanin and laminin/GPVI.
    9. T-cell PILAR signaling through CD161 supports CD3 antibody-dependent and antigen-specific T-cell proliferation by increasing the expression of antiapoptotic Bcl-xL and induces secretion of T helper type 1 cytokines
      Title: PILAR is a novel modulator of human T-cell expansion.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of C-type lectin domain family 2, member A (CLEC2A) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in natural killer cell mediated cytotoxicity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    C-type lectin domain family 2 member A
    Names
    keratinocyte-associated C-type lectin
    proliferation-induced lymphocyte-associated receptor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001130711.2 → NP_001124183.1  C-type lectin domain family 2 member A isoform 1

      See identical proteins and their annotated locations for NP_001124183.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      EF127467
      Consensus CDS
      CCDS44829.1
      UniProtKB/Swiss-Prot
      A5Y4G5, A9QKS2, A9QKS3, Q6UVW9
      Related
      ENSP00000396163.1, ENST00000455827.2
      Conserved Domains (1) summary
      cd03593
      Location:58 → 169
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

    2. NM_207375.3 → NP_997258.1  C-type lectin domain family 2 member A isoform 2

      See identical proteins and their annotated locations for NP_997258.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC091814, AY359126, EF127467
      Consensus CDS
      CCDS8606.1
      UniProtKB/Swiss-Prot
      Q6UVW9
      Related
      ENSP00000339732.4, ENST00000339766.8
      Conserved Domains (1) summary
      cd03593
      Location:58 → 137
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      9877742..9932370 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520657.3 → XP_011518959.1  C-type lectin domain family 2 member A isoform X3

      Conserved Domains (1) summary
      cd03593
      Location:58 → 135
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

    2. XM_047428830.1 → XP_047284786.1  C-type lectin domain family 2 member A isoform X4

    3. XM_011520654.3 → XP_011518956.1  C-type lectin domain family 2 member A isoform X1

      Conserved Domains (1) summary
      cd03593
      Location:58 → 135
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

    4. XM_047428829.1 → XP_047284785.1  C-type lectin domain family 2 member A isoform X2

    RNA

    1. XR_007063076.1 RNA Sequence

    2. XR_007063074.1 RNA Sequence

    3. XR_007063075.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      9767385..9818588 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372024.1 → XP_054227999.1  C-type lectin domain family 2 member A isoform X3

    2. XM_054372025.1 → XP_054228000.1  C-type lectin domain family 2 member A isoform X4

    3. XM_054372023.1 → XP_054227998.1  C-type lectin domain family 2 member A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UVW9.2 GenPept UniProtKB/Swiss-Prot:Q6UVW9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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