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    CD300C CD300c molecule [ Homo sapiens (human) ]

    Gene ID: 10871, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CD300Cprovided by HGNC
    Official Full Name
    CD300c moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:19320
    See related
    Ensembl:ENSG00000167850 MIM:606786; AllianceGenome:HGNC:19320
    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
    LIR; CLM-6; CMRF35; IGSF16; CMRF-35; CMRF35A; CMRF-35A; CMRF35A1; CMRF35-A1
    Summary
    The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in lung (RPKM 2.9), appendix (RPKM 2.6) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CD300C in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74534635..74546115, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75425156..75436636, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72537212..72542254, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12707 Neighboring gene CD300a molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12710 Neighboring gene uncharacterized LOC107985074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12712 Neighboring gene CD300 molecule like family member b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72535116-72535616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72546952-72547452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72547453-72547953 Neighboring gene CD300H molecule (gene/pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72564995-72565725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72565726-72566455 Neighboring gene CD300LD antisense RNA 1 Neighboring gene CD300 molecule like family member d Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12713

    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. A CD300c-Fc Fusion Protein Inhibits T Cell Immunity. Cui C, et al. Front Immunol, 2018. PMID 30498497, Free PMC Article
    2. CD300c costimulates IgE-mediated basophil activation, and its expression is increased in patients with cow's milk allergy. Zenarruzabeitia O, et al. J Allergy Clin Immunol, 2019 Feb. PMID 29906528
    3. The gene encoding the immunoregulatory signaling molecule CMRF-35A localized to human chromosome 17 in close proximity to other members of the CMRF-35 family. Clark GJ, et al. Tissue Antigens, 2001 May. PMID 11556966
    4. CD300c is an activating receptor expressed on human monocytes. Simhadri VR, et al. J Innate Immun, 2013. PMID 23571507, Free PMC Article
    5. Molecular cloning of a novel member of the immunoglobulin gene superfamily homologous to the polymeric immunoglobulin receptor. Jackson DG, et al. Eur J Immunol, 1992 May. PMID 1349532

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CD300c could be considered a biomarker and therapeutic target in patients with IgE-mediated allergic diseases
      Title: CD300c costimulates IgE-mediated basophil activation, and its expression is increased in patients with cow's milk allergy.
    2. Administration of CD300c-Fc protein attenuates graft-vs.-host disease (GVHD) in mice.
      Title: A CD300c-Fc Fusion Protein Inhibits T Cell Immunity.
    3. Results show that CD300c is exclusively expressed on CD56bright natural killer cells and differentially binds to phosphatidylethanolamine and phosphatidylserine. This expression is under the regulation of STAT5 and Il-4.
      Title: CD300c is uniquely expressed on CD56 bright Natural Killer Cells and differs from CD300a upon ligand recognition.
    4. potential role in inflammatory responses
      Title: CD300c is an activating receptor expressed on human monocytes.
    5. engagement of CD300C led to Fc receptor gamma-dependent activation of mast cells and monocytes
      Title: Human CD300C delivers an Fc receptor-γ-dependent activating signal in mast cells and monocytes and differs from CD300A in ligand recognition.
    6. differential expression on human TH1 and TH17 cell memory subsets
      Title: Differential expression of CD300a/c on human TH1 and TH17 cells.
    7. CD300a and CD300c receptors are indistinguishable on the surface of natural killer (NK) cells. The tyrosine residue in the third ITIM motif, Tyr-267-Ala, is the most important residue for execution of the inhibitory signal.
      Title: Expression and function of CD300 in NK cells.
    8. CD300a and CD300c play an important role in the cross-regulation of TNF-alpha and IFN-alpha secretion from pDCs; CD300a/c RNA and surface expression were downregulated after stimulation of pDCs with TLR7 and TLR9 ligands
      Title: CD300a/c regulate type I interferon and TNF-alpha secretion by human plasmacytoid dendritic cells stimulated with TLR7 and TLR9 ligands.
    9. CMRF35A and CMRF35H have roles in immunoglobulin signaling; CMRF35A induces cellular activation and effector function [review]
      Title: CMRF-35A, CMRF-35H: potential new CD.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular defense response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    CMRF35-like molecule 6
    Names
    CD300 antigen-like family member C
    CD300c antigen
    CMRF35 antigen
    CMRF35 leukocyte immunoglobulin-like receptor
    CMRF35A leukocyte immunoglobulin-like receptor
    immunoglobulin superfamily member 16

    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_006678.5 → NP_006669.1  CMRF35-like molecule 6 precursor

      See identical proteins and their annotated locations for NP_006669.1

      Status: VALIDATED

      Source sequence(s)
      AC079325, BC022279, BF508242
      Consensus CDS
      CCDS11701.1
      UniProtKB/Swiss-Prot
      Q08708
      Related
      ENSP00000329507.1, ENST00000330793.2
      Conserved Domains (2) summary
      cd05716
      Location:30 → 119
      Ig_pIgR_like; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR) and similar domains
      cl11960
      Location:95 → 183
      Ig; Immunoglobulin 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74534635..74546115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024033.3 → XP_016879522.1  CMRF35-like molecule 6 isoform X1

    2. XM_047435157.1 → XP_047291113.1  CMRF35-like molecule 6 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791806.1 Reference GRCh38.p14 PATCHES

      Range
      111083..122563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333226.1 → XP_054189201.1  CMRF35-like molecule 6 isoform X1

    2. XM_054333227.1 → XP_054189202.1  CMRF35-like molecule 6 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75425156..75436636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314749.1 → XP_054170724.1  CMRF35-like molecule 6 isoform X1

    2. XM_054314750.1 → XP_054170725.1  CMRF35-like molecule 6 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08708.1 GenPept UniProtKB/Swiss-Prot:Q08708

    Gene LinkOut

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

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