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    CD27 CD27 molecule [ Homo sapiens (human) ]

    Gene ID: 939, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CD27provided by HGNC
    Official Full Name
    CD27 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:11922
    See related
    Ensembl:ENSG00000139193 MIM:186711; AllianceGenome:HGNC:11922
    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
    T14; S152; Tp55; TNFRSF7; S152. LPFS2
    Summary
    The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lymph node (RPKM 38.5), spleen (RPKM 21.6) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CD27 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6443892..6451713)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6454276..6462105)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6553058..6560879)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:6543574-6544074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4161 Neighboring gene CD27 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4162 Neighboring gene SRP14 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6554257-6554758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5861 Neighboring gene TAP binding protein like Neighboring gene vesicle associated membrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4165 Neighboring gene plakophilin 2 pseudogene 1

    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. CD27 defines phenotypically and functionally different human NK cell subsets. Vossen MT, et al. J Immunol, 2008 Mar 15. PMID 18322179
    2. B cells naturally induced during dengue virus infection release soluble CD27, the plasma level of which is associated with severe forms of pediatric dengue. Castañeda DM, et al. Virology, 2016 Oct. PMID 27467579
    3. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. Alkhairy OK, et al. J Allergy Clin Immunol, 2015 Sep. PMID 25843314
    4. Soluble CD27-pool in humans may contribute to T cell activation and tumor immunity. Huang J, et al. J Immunol, 2013 Jun 15. PMID 23677477, Free PMC Article
    5. Expansion of CD27high plasmablasts in transverse myelitis patients that utilize VH4 and JH6 genes and undergo extensive somatic hypermutation. Ligocki AJ, et al. Genes Immun, 2013 Jul-Aug. PMID 23594958, Free PMC Article

    See all (142) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive Analysis of Expression and Pathway for CD27 in Esophageal Cancer.
      Title: Comprehensive Analysis of Expression and Pathway for CD27 in Esophageal Cancer.
    2. Soluble CD27 as a predictive biomarker for intra-tumoral CD70/CD27 interaction in nasopharyngeal carcinoma.
      Title: Soluble CD27 as a predictive biomarker for intra-tumoral CD70/CD27 interaction in nasopharyngeal carcinoma.
    3. Cerebrospinal fluid soluble CD27 is associated with CD8[+] T cells, B cells and biomarkers of B cell activity in relapsing-remitting multiple sclerosis.
      Title: Cerebrospinal fluid soluble CD27 is associated with CD8(+) T cells, B cells and biomarkers of B cell activity in relapsing-remitting multiple sclerosis.
    4. CD27 on human memory B cells-more than just a surface marker.
      Title: CD27 on human memory B cells-more than just a surface marker.
    5. Chronic CD27-CD70 costimulation promotes type 1-specific polarization of effector Tregs.
      Title: Chronic CD27-CD70 costimulation promotes type 1-specific polarization of effector Tregs.
    6. Soluble Immune Checkpoint Protein CD27 Is a Novel Prognostic Biomarker of Hepatocellular Carcinoma Development in Hepatitis C Virus-Sustained Virological Response Patients.
      Title: Soluble Immune Checkpoint Protein CD27 Is a Novel Prognostic Biomarker of Hepatocellular Carcinoma Development in Hepatitis C Virus-Sustained Virological Response Patients.
    7. Early detection of soluble CD27, BTLA, and TIM-3 predicts the development of nosocomial infection in pediatric burn patients.
      Title: Early detection of soluble CD27, BTLA, and TIM-3 predicts the development of nosocomial infection in pediatric burn patients.
    8. CD27 mRNA expression in mycosis fungoides.
      Title: CD27 mRNA expression in mycosis fungoides.
    9. The Splenic Marginal Zone in Children Is Characterized by a Subpopulation of CD27-Negative, Lowly IGHV-Mutated B Cells.
      Title: The Splenic Marginal Zone in Children Is Characterized by a Subpopulation of CD27-Negative, Lowly IGHV-Mutated B Cells.
    10. CD27 is required for protective lytic EBV antigen-specific CD8+ T-cell expansion.
      Title: CD27 is required for protective lytic EBV antigen-specific CD8+ T-cell expansion.
    Submit: New GeneRIF Correction See all GeneRIFs (92)

    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

    Associated conditions

    Description Tests
    Lymphoproliferative syndrome 2
    MedGen: C3554540 OMIM: 615122 GeneReviews: Not available
    		Compare labs

    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
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD27 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of CD27molecule (TNFRSF7: tumor necrosis factor receptor superfamily, member 7) in human B cells PubMed
    env HIV-1 gp120 induces CD4 association with lymphocyte surface molecules CD3, CD11a, CD27, CD45RA, CD45RB, CD45RO, CD49d, CD38, CD26, CD59, CD95 and class I MHC molecules PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp140 upregulates the expression of the B cell activation marker CD38 and the memory B cell marker CD27 PubMed
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD27 (TNFRSF7) PubMed
    Tat tat HIV-1 Tat upregulates the expression of CD27 in stimulated CD8+T lymphocytes PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD27 (TNFRSF7) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20393

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process 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 
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CD27 signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in T cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adaptive immune memory response involving T cells and B cells IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell surface receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in immunoglobulin mediated immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of T cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of B cell differentiation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of JNK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of non-canonical NF-kappaB signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    CD27 antigen
    Names
    CD27L receptor
    T cell activation antigen S152
    T-cell activation antigen CD27
    tumor necrosis factor receptor superfamily, member 7

    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.

    Genomic

    1. NG_031995.1 RefSeqGene

      Range
      5001..11834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_357

    mRNA and Protein(s)

    1. NM_001242.5 → NP_001233.2  CD27 antigen isoform b precursor

      Status: REVIEWED

      Source sequence(s)
      AC005840
      Consensus CDS
      CCDS8545.1
      UniProtKB/Swiss-Prot
      B2RDZ0, P26842
      Related
      ENSP00000266557.3, ENST00000266557.4
      Conserved Domains (1) summary
      cd13408
      Location:4 → 124
      TNFRSF7; Tumor necrosis factor receptor superfamily member 7 (TNFRSF7), also known as CD27

    2. NM_001413263.1 → NP_001400192.1  CD27 antigen isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC005840

    3. NM_001413264.1 → NP_001400193.1  CD27 antigen isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC005840

    4. NM_001413265.1 → NP_001400194.1  CD27 antigen isoform d precursor

      Status: REVIEWED

      Source sequence(s)
      AC005840

    5. NM_001413266.1 → NP_001400195.1  CD27 antigen isoform e

      Status: REVIEWED

      Source sequence(s)
      AC005840, KF570263

    6. NM_001413267.1 → NP_001400196.1  CD27 antigen isoform e

      Status: REVIEWED

      Source sequence(s)
      AC005840, KF570263

    7. NM_001413268.1 → NP_001400197.1  CD27 antigen isoform e

      Status: REVIEWED

      Source sequence(s)
      AC005840

    RNA

    1. NR_182125.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005840

    2. NR_182126.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005840

    3. NR_182127.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005840

    4. NR_182128.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005840

    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
      6443892..6451713
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020234.2 → XP_016875723.1  CD27 antigen isoform X1

    2. XM_047429900.1 → XP_047285856.1  CD27 antigen isoform X2

    3. XM_011521042.4 → XP_011519344.1  CD27 antigen isoform X3

      Conserved Domains (1) summary
      cl22855
      Location:34 → 78
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6454276..6462105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373867.1 → XP_054229842.1  CD27 antigen isoform X4

    2. XM_054373868.1 → XP_054229843.1  CD27 antigen isoform X5

    3. XM_054373869.1 → XP_054229844.1  CD27 antigen isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26842.2 GenPept UniProtKB/Swiss-Prot:P26842

    Gene LinkOut

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

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