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    CD69 CD69 molecule [ Homo sapiens (human) ]

    Gene ID: 969, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CD69provided by HGNC
    Official Full Name
    CD69 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1694
    See related
    Ensembl:ENSG00000110848 MIM:107273; AllianceGenome:HGNC:1694
    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
    AIM; EA1; MLR-3; CLEC2C; GP32/28; BL-AC/P26
    Summary
    This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]
    Expression
    Biased expression in bone marrow (RPKM 55.9), lymph node (RPKM 41.3) and 13 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CD69 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (9752486..9760901, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (9638644..9647057, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9905082..9913497, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4231 Neighboring gene long intergenic non-protein coding RNA 2390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4233 Neighboring gene C-type lectin like 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4234 Neighboring gene CRISPRi-validated cis-regulatory element chr12.520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5954 Neighboring gene Sharpr-MPRA regulatory region 11505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5956 Neighboring gene CRISPRi-validated cis-regulatory element chr12.528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5957 Neighboring gene killer cell lectin like receptor F1 Neighboring gene GCNA pseudogene 1 Neighboring gene C-type lectin domain family 2 member B

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The heterogeneity of tumour immune microenvironment revealing the CRABP2/CD69 signature discriminates distinct clinical outcomes in breast cancer.
      Title: The heterogeneity of tumour immune microenvironment revealing the CRABP2/CD69 signature discriminates distinct clinical outcomes in breast cancer.
    2. Cancer cell-derived CD69 induced under lipid and oxygen starvation promotes ovarian cancer progression through fibronectin.
      Title: Cancer cell-derived CD69 induced under lipid and oxygen starvation promotes ovarian cancer progression through fibronectin.
    3. CD69 serves as a potential diagnostic and prognostic biomarker for hepatocellular carcinoma.
      Title: CD69 serves as a potential diagnostic and prognostic biomarker for hepatocellular carcinoma.
    4. Machine learning links different gene patterns of viral infection to immunosuppression and immune-related biomarkers in severe burns.
      Title: Machine learning links different gene patterns of viral infection to immunosuppression and immune-related biomarkers in severe burns.
    5. Combined assessment of S- and N-specific IL-2 and IL-13 secretion and CD69 neo-expression for discrimination of post-infection and post-vaccination cellular SARS-CoV-2-specific immune response.
      Title: Combined assessment of S- and N-specific IL-2 and IL-13 secretion and CD69 neo-expression for discrimination of post-infection and post-vaccination cellular SARS-CoV-2-specific immune response.
    6. CD4+ T cells in inflammatory diseases: pathogenic T-helper cells and the CD69-Myl9 system.
      Title: CD4+ T cells in inflammatory diseases: pathogenic T-helper cells and the CD69-Myl9 system.
    7. Apoptosis inhibitor of macrophage as a biomarker for disease activity in Japanese children with IgA nephropathy and Henoch-Schonlein purpura nephritis.
      Title: Apoptosis inhibitor of macrophage as a biomarker for disease activity in Japanese children with IgA nephropathy and Henoch-Schönlein purpura nephritis.
    8. Prognostic Relevance of Concordant Expression CD69 and CD56 in Response to Bortezomib Combination Therapy in Multiple Myeloma Patients.
      Title: Prognostic Relevance of Concordant Expression CD69 and CD56 in Response to Bortezomib Combination Therapy in Multiple Myeloma Patients.
    9. T cells selectively filter oscillatory signals on the minutes timescale.
      Title: T cells selectively filter oscillatory signals on the minutes timescale.
    10. Increased CD69 expression on activated eosinophils in eosinophilic chronic rhinosinusitis correlates with clinical findings.
      Title: Increased CD69 expression on activated eosinophils in eosinophilic chronic rhinosinusitis correlates with clinical findings.
    Submit: New GeneRIF Correction See all GeneRIFs (61)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 significantly inhibits CD69 expression in phytohemagglutinin-stimulated T cells in vitro and may also affect T-cell activation in vivo PubMed
    Nef nef Cells expressing HIV-1 Nef from long-term non-progressors and progressive infection patients induce higher surface levels of CD69 and CD25 than cells producing HIV-2 or SIV Nef PubMed
    nef HIV-1 Nef protein with an intact SH3-binding domain expressed in the productively infected monocyte-derived macrophages is required for the enhanced expression of CD69 on the cell surface PubMed
    nef Functional Nef is required for the activation of resting CD4+ T cells by upregulating CD69 expression on cell surface PubMed
    nef HIV-1 Nef downregulates CD69 in Jurkat cells in a concentration-dependent manner PubMed
    nef HIV-1 Nef blocks a receptor-proximal event in CD3 signaling by downregulating CD69 expression on the cell surface; mutations at amino acid residues P72, P75, R105 and R106 in Nef disrupts the ability of Nef to block CD3 signaling PubMed
    Tat tat HIV-1 Tat binds to a cell surface receptor and activates a cell surface-mediated signal pathway in K562 cells, leading to the activation of NF-kappa B and the induction of CD69 PubMed
    Vpr vpr Human endothelial cell (EC)-stimulated virus-producing cells (p24(high) T cells) are activated to sometimes express CD69 (but not CD25, HLA-DR, VLA-1, or effector cytokines) in the presence of HIV-1 Vpr 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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables molecular sequestering activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of T cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of T-helper 17 cell lineage commitment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    early activation antigen CD69
    Names
    C-type lectin domain family 2, member C
    CD69 antigen (p60, early T-cell activation antigen)
    activation inducer molecule (AIM/CD69)
    early T-cell activation antigen p60
    early lymphocyte activation antigen
    leukocyte surface antigen Leu-23

    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_001781.2 → NP_001772.1  early activation antigen CD69

      See identical proteins and their annotated locations for NP_001772.1

      Status: REVIEWED

      Source sequence(s)
      AC007068, Z22576
      Consensus CDS
      CCDS8604.1
      UniProtKB/Swiss-Prot
      Q07108
      UniProtKB/TrEMBL
      B4E009, Q53ZX0
      Related
      ENSP00000228434.3, ENST00000228434.7
      Conserved Domains (1) summary
      cd03593
      Location:85 → 196
      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_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
      9752486..9760901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      9638644..9647057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_026671.1: Suppressed sequence

      Description
      NR_026671.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.

    2. NR_026672.1: Suppressed sequence

      Description
      NR_026672.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07108.1 GenPept UniProtKB/Swiss-Prot:Q07108

    Gene LinkOut

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

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