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    CLEC6A C-type lectin domain containing 6A [ Homo sapiens (human) ]

    Gene ID: 93978, updated on 5-Mar-2024

    Summary

    Official Symbol
    CLEC6Aprovided by HGNC
    Official Full Name
    C-type lectin domain containing 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:14556
    See related
    Ensembl:ENSG00000205846 MIM:613579; AllianceGenome:HGNC:14556
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLEC4N; CLECSF10; dectin-2; hDECTIN-2
    Summary
    The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See CLEC6A in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8455962..8478330)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8439728..8461787)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8608558..8630926)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906977 Neighboring gene olfactory receptor family 7 subfamily E member 148 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 149 pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:8614029-8615018 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:8615019-8616010 Neighboring gene ribosomal protein L15 pseudogene 17 Neighboring gene RNA, U6 small nuclear 275, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5935 Neighboring gene SPT4 homolog, DSIF elongation factor subunit pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carbohydrate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables carbohydrate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carbohydrate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables mannose binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pattern recognition receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pattern recognition receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phospholipase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in antifungal innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in antifungal innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in defense response to fungus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in detection of yeast ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T-helper 17 type immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of positive regulation of peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to yeast ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in stimulatory C-type lectin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    C-type lectin domain family 6 member A
    Names
    C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10
    C-type lectin superfamily member 10
    DC-associated C-type lectin 2
    dectin 2
    dendritic cell-associated C-type lectin 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001007033.2NP_001007034.1  C-type lectin domain family 6 member A isoform 1

      See identical proteins and their annotated locations for NP_001007034.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC092746, AC092865
      Consensus CDS
      CCDS31739.1
      UniProtKB/Swiss-Prot
      A2RUK3, Q6EIG7
      Related
      ENSP00000371505.3, ENST00000382073.4
      Conserved Domains (1) summary
      cd03590
      Location:79204
      CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)
    2. NM_001317999.2NP_001304928.1  C-type lectin domain family 6 member A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. This variant is supported by transcripts from the mouse ortholog Clec4n (GeneID 56620) and by PMID:15810886.
      Source sequence(s)
      AC092746, AC092865
      UniProtKB/Swiss-Prot
      Q6EIG7
      Conserved Domains (1) summary
      cd03590
      Location:49174
      CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)

    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
      8455962..8478330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      8439728..8461787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)