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    KLRC4 killer cell lectin like receptor C4 [ Homo sapiens (human) ]

    Gene ID: 8302, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KLRC4provided by HGNC
    Official Full Name
    killer cell lectin like receptor C4provided by HGNC
    Primary source
    HGNC:HGNC:6377
    See related
    Ensembl:ENSG00000183542 MIM:602893; AllianceGenome:HGNC:6377
    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
    NKG2F; NKG2-F
    Summary
    Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in spleen (RPKM 6.6), lymph node (RPKM 3.0) and 17 other tissues See more
    Orthologs
    all
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    Genomic context

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    See KLRC4 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10407384..10409757, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10294201..10296574, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10559983..10562356, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2598 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:10513466-10514066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5961 Neighboring gene KLRK1 antisense RNA 1 Neighboring gene MPRA-validated peak1570 silencer Neighboring gene KLRC4-KLRK1 readthrough Neighboring gene killer cell lectin like receptor K1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:10548157-10548798 Neighboring gene killer cell lectin like receptor C3 Neighboring gene killer cell lectin like receptor C2

    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 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. Human NKG2F is expressed and can associate with DAP12. Kim DK, et al. Mol Immunol, 2004 May. PMID 15140575
    2. Identification of the NKG2D haplotypes associated with natural cytotoxic activity of peripheral blood lymphocytes and cancer immunosurveillance. Hayashi T, et al. Cancer Res, 2006 Jan 1. PMID 16397273
    3. Up-regulation of NKG2F receptor, a functionally unknown killer receptor, of human natural killer cells by interleukin-2 and interleukin-15. Huang H, et al. Oncol Rep, 2010 Oct. PMID 20811687
    4. Cloning of NKG2-F, a new member of the NKG2 family of human natural killer cell receptor genes. Plougastel B, et al. Eur J Immunol, 1997 Nov. PMID 9394807
    5. Novel Association of KLRC4-KLRK1 Gene Polymorphisms with Susceptibility and Progression of Antithyroid Drug-Induced Agranulocytosis. He Y, et al. Exp Clin Endocrinol Diabetes, 2024 Jan. PMID 38237612

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel Association of KLRC4-KLRK1 Gene Polymorphisms with Susceptibility and Progression of Antithyroid Drug-Induced Agranulocytosis.
      Title: Novel Association of KLRC4-KLRK1 Gene Polymorphisms with Susceptibility and Progression of Antithyroid Drug-Induced Agranulocytosis.
    2. Screening for the Biomarkers Associated with Myocardial Infarction by Bioinformatics Analysis.
      Title: Screening for the Biomarkers Associated with Myocardial Infarction by Bioinformatics Analysis.
    3. This study demonstrates that the MBL2/rs1800450 and KLRC4/rs2617170 are susceptibility factors for Behcet's disease in a Chinese Han population.
      Title: Genetic polymorphisms of C-type lectin receptors in Behcet's disease in a Chinese Han population.
    4. CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 are bona fide susceptibility genes for Behcet's disease.
      Title: Brief report: association of CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 With Behçet's disease in Iranians.
    5. NKG2F was expressed on surface of human blood NK cells, and may be up-regulated at mRNA level and protein level after IL-2 or IL-15 stimulation.
      Title: Up-regulation of NKG2F receptor, a functionally unknown killer receptor, of human natural killer cells by interleukin-2 and interleukin-15.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of NKG2D genetic polymorphism with susceptibility to chronic hepatitis B in a Han Chinese population.
    7. NKG2F is expressed in NK cells and can associate with DAP12.
      Title: Human NKG2F is expressed and can associate with DAP12.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough KLRC4-KLRK1

    Readthrough gene: KLRC4-KLRK1, Included gene: KLRK1

    Homology

    Clone Names

    • FLJ17759, FLJ78582

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of natural killer cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in stimulatory C-type lectin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NKG2-F type II integral membrane protein
    Names
    NK cell receptor F
    NKG2-F-activating NK receptor
    killer cell lectin-like receptor subfamily C, member 4
    natual killer cell group 2-F

    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_013431.2 → NP_038459.1  NKG2-F type II integral membrane protein

      See identical proteins and their annotated locations for NP_038459.1

      Status: REVIEWED

      Source sequence(s)
      AJ001683
      Consensus CDS
      CCDS8624.1
      UniProtKB/Swiss-Prot
      O43908, O60851
      UniProtKB/TrEMBL
      H3BQV0
      Related
      ENSP00000310216.1, ENST00000309384.3
      Conserved Domains (1) summary
      cl02432
      Location:120 → 143
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      10407384..10409757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      10294201..10296574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43908.2 GenPept UniProtKB/Swiss-Prot:O43908

    Gene LinkOut

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

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