CD27 Gene (Protein Coding)

CD27 Molecule

GC12P010837
GIFtS:
45
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 T... See more...

Aliases for CD27 Gene

Aliases for CD27 Gene

  • CD27 Molecule 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily, Member 7 2 3
  • T-Cell Activation Antigen CD27 3 4
  • CD27L Receptor 3 4
  • CD27 Antigen 3 4
  • TNFRSF7 3 4
  • S152 2 3
  • Tp55 2 3
  • T14 3 4
  • Tumor Necrosis Factor Receptor Superfamily Member 7 4
  • T Cell Activation Antigen S152 3
  • S152. LPFS2 3
  • CD27 5

External Ids for CD27 Gene

Previous HGNC Symbols for CD27 Gene

  • TNFRSF7

Previous GeneCards Identifiers for CD27 Gene

  • GC12P006425
  • GC12P006554
  • GC12P006445
  • GC12P006608
  • GC12P008144
  • GC12P008947

Summaries for CD27 Gene

Entrez Gene Summary for CD27 Gene

  • 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]

GeneCards Summary for CD27 Gene

CD27 (CD27 Molecule) is a Protein Coding gene. Diseases associated with CD27 include Lymphoproliferative Syndrome 2 and Combined T And B Cell Immunodeficiency. Among its related pathways are Akt Signaling and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and cysteine-type endopeptidase inhibitor activity involved in apoptotic process. An important paralog of this gene is TNFRSF9.

UniProtKB/Swiss-Prot Summary for CD27 Gene

  • Receptor for CD70/CD27L. May play a role in survival of activated T-cells. May play a role in apoptosis through association with SIVA1.

Gene Wiki entry for CD27 Gene

Additional gene information for CD27 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD27 Gene

Genomics for CD27 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CD27 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD27 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD27

Top Transcription factor binding sites by QIAGEN in the CD27 gene promoter:
  • AML1a
  • FOXO4
  • GR
  • GR-alpha
  • GR-beta
  • HSF1 (long)
  • HSF1short
  • p53

Genomic Locations for CD27 Gene

Latest Assembly
chr12:6,444,867-6,451,718
(GRCh38/hg38)
Size:
6,852 bases
Orientation:
Plus strand

Previous Assembly
chr12:6,554,121-6,560,879
(GRCh37/hg19 by Entrez Gene)
Size:
6,759 bases
Orientation:
Plus strand

chr12:6,554,033-6,560,884
(GRCh37/hg19 by Ensembl)
Size:
6,852 bases
Orientation:
Plus strand

Genomic View for CD27 Gene

Genes around CD27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD27 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CD27 Gene

Proteins for CD27 Gene

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  • Protein details for CD27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26842-CD27_HUMAN
    Recommended name:
    CD27 antigen
    Protein Accession:
    P26842
    Secondary Accessions:
    • B2RDZ0

    Protein attributes for CD27 Gene

    Size:
    260 amino acids
    Molecular mass:
    29137 Da
    Quaternary structure:
    • Homodimer. Interacts with SIVA1 and TRAF2.

    Three dimensional structures from OCA and Proteopedia for CD27 Gene

neXtProt entry for CD27 Gene

Protein Expression for CD27 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CD27 Gene

Other Protein References for CD27 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CD27

No data available for DME Specific Peptides for CD27 Gene

Domains & Families for CD27 Gene

Gene Families for CD27 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for CD27 Gene

InterPro:
Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region

Suggested Antigen Peptide Sequences for CD27 Gene

GenScript: Design optimal peptide antigens:
  • Tumor necrosis factor receptor superfamily member 7 (CD27_HUMAN)
genes like me logo Genes that share domains with CD27: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD27 Gene

Function for CD27 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for CD27 Gene

UniProtKB/Swiss-Prot Function:
Receptor for CD70/CD27L. May play a role in survival of activated T-cells. May play a role in apoptosis through association with SIVA1.

Phenotypes From GWAS Catalog for CD27 Gene

Gene Ontology (GO) - Molecular Function for CD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity NAS 14556986
GO:0005515 protein binding IPI 9177220
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA 12324477
genes like me logo Genes that share ontologies with CD27: view
genes like me logo Genes that share phenotypes with CD27: view

Human Phenotype Ontology for CD27 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD27 Gene

MGI Knock Outs for CD27:

miRNA for CD27 Gene

miRTarBase miRNAs that target CD27

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD27

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD27 Gene

Localization for CD27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD27 Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD27 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 12624711
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 12324477
GO:0009897 external side of plasma membrane IEA,IBA 21873635
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with CD27: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD27 Gene

Pathways & Interactions for CD27 Gene

PathCards logo

SuperPathways for CD27 Gene

genes like me logo Genes that share pathways with CD27: view

Pathways by source for CD27 Gene

1 KEGG pathway for CD27 Gene
1 GeneGo (Thomson Reuters) pathway for CD27 Gene
  • Apoptosis and survival Apoptotic TNF-family pathways
8 Qiagen pathways for CD27 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • CD27 Pathway
  • Molecular Mechanisms of Cancer
  • p38 Signaling

SIGNOR curated interactions for CD27 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007166 cell surface receptor signaling pathway NAS 14556986
GO:0016064 immunoglobulin mediated immune response NAS 14556986
GO:0033209 tumor necrosis factor-mediated signaling pathway TAS --
GO:0043066 negative regulation of apoptotic process IBA,IDA 12324477
genes like me logo Genes that share ontologies with CD27: view

Drugs & Compounds for CD27 Gene

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  1. Drug products for research

(5) Drugs for CD27 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CD70 Pharma 0
CDX-1127 Pharma immunostimulator, inhibitor immunostimulator 0

(1) Additional Compounds for CD27 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD27: view

Transcripts for CD27 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for CD27 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD27

Alternative Splicing Database (ASD) splice patterns (SP) for CD27 Gene

No ASD Table

Relevant External Links for CD27 Gene

GeneLoc Exon Structure for
CD27

Expression for CD27 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD27 Gene

mRNA expression in normal human tissues for CD27 Gene
mRNA expression by BioGPS for CD27 GenemRNA expression by GTEx for CD27 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD27 Gene

This gene is overexpressed in Spleen (x9.2), Whole Blood (x7.4), and Small Intestine - Terminal Ileum (x4.6).

Protein differential expression in normal tissues from HIPED for CD27 Gene

This gene is overexpressed in Urine (31.2), Peripheral blood mononuclear cells (17.9), and Blymphocyte (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD27 Gene



Protein tissue co-expression partners for CD27 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD27

SOURCE GeneReport for Unigene cluster for CD27 Gene:

Hs.355307

mRNA Expression by UniProt/SwissProt for CD27 Gene:

P26842-CD27_HUMAN
Tissue specificity: Found in most T-lymphocytes.

Evidence on tissue expression from TISSUES for CD27 Gene

  • Blood(4.8)
  • Lymph node(3.7)
  • Spleen(3.7)
  • Intestine(3.2)
  • Bone marrow(3.2)
  • Nervous system(3.1)
  • Lung(2.2)
  • Liver(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD27 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
Regions:
Head and neck:
  • brain
  • head
  • mouth
Abdomen:
  • liver
  • spleen
General:
  • blood
  • bone marrow
  • coagulation system
  • lymph node
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with CD27: view

Primer products for research

Orthologs for CD27 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CD27 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CD27 29 30
  • 99.49 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CD27 29 30
  • 83.01 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CD27 29 30
  • 81.5 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cd27 29
  • 76.93 (n)
Mouse
(Mus musculus)
 Mammalia Cd27 29 16 30
  • 76.8 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CD27 30
  • 41 (a)
 OneToOne
Species where no ortholog for CD27 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CD27 Gene

ENSEMBL:
Gene Tree for CD27 (if available)
TreeFam:
Gene Tree for CD27 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD27: view image
Alliance of Genome Resources:
Additional Orthologs for CD27

Paralogs for CD27 Gene

Variants for CD27 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD27 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1003118 Uncertain Significance: Lymphoproliferative syndrome 2 6,451,372(+) G/C
NM_001242.5(CD27):c.763G>C (p.Glu255Gln) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1010640 Uncertain Significance: Lymphoproliferative syndrome 2 6,450,942(+) T/C
NM_001242.5(CD27):c.586T>C (p.Phe196Leu) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1021457 Uncertain Significance: Lymphoproliferative syndrome 2 6,451,294(+) G/A
NM_001242.5(CD27):c.685G>A (p.Ala229Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1022183 Uncertain Significance: Lymphoproliferative syndrome 2 6,445,435(+) G/A
NM_001242.5(CD27):c.148G>A (p.Val50Met) 		MISSENSE
1041352 Uncertain Significance: Lymphoproliferative syndrome 2 6,445,430(+) T/A
NM_001242.5(CD27):c.143T>A (p.Phe48Tyr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD27 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CD27 Gene

Variant ID Type Subtype PubMed ID
esv2759876 CNV gain 17122850
esv34325 CNV gain 17911159
esv34390 CNV gain 17911159
esv3628406 CNV gain 21293372
nsv442252 CNV gain 18776908
nsv818881 CNV gain 17921354
nsv8894 CNV gain 18304495

Variation tolerance for CD27 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.40; 77.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD27 Gene

Human Gene Mutation Database (HGMD)
CD27
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD27
Leiden Open Variation Database (LOVD)
CD27

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD27 Gene

Disorders for CD27 Gene

MalaCards: The human disease database

(55) MalaCards diseases for CD27 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
lymphoproliferative syndrome 2
  • lpfs2
combined t and b cell immunodeficiency
combined immunodeficiency
  • combined t cell and b cell immunodeficiency
immune deficiency disease
  • primary immunodeficiency disease
lymphoproliferative syndrome
  • lymphoproliferative disorder
- elite association - COSMIC cancer census association via MalaCards
Search CD27 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CD27_HUMAN
  • Lymphoproliferative syndrome 2 (LPFS2) [MIM:615122]: An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation. {ECO:0000269 PubMed:22197273, ECO:0000269 PubMed:22801960}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CD27

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD27: view

No data available for Genatlas for CD27 Gene

Publications for CD27 Gene

  1. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. (PMID: 22197273) van Montfrans JM … Tesselaar K (The Journal of allergy and clinical immunology 2012) 3 4 72
  2. Isolation and regional assignment of human chromosome 12p cDNAs. (PMID: 8530100) Baens M … Marynen P (Genomics 1995) 2 3 22
  3. Genomic organization and chromosomal localization of the human CD27 gene. (PMID: 1334106) Loenen WA … Borst J (Journal of immunology (Baltimore, Md. : 1950) 1992) 3 4 22
  4. The T cell activation antigen CD27 is a member of the nerve growth factor/tumor necrosis factor receptor gene family. (PMID: 1655907) Camerini D … Seed B (Journal of immunology (Baltimore, Md. : 1950) 1991) 3 4 22
  5. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. (PMID: 22801960) Salzer E … Seidel MG (Haematologica 2013) 3 4

ExternalLinks

View latest publications for CD27 gene in Mastermind

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