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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
  • T14 3 4
  • Tumor Necrosis Factor Receptor Superfamily Member 7 4
  • T Cell Activation Antigen S152 3
  • S152. LPFS2 3
  • S152 3
  • Tp55 3

External Ids for CD27 Gene

Previous HGNC Symbols for CD27 Gene

  • TNFRSF7

Previous GeneCards Identifiers for CD27 Gene

  • GC12P006554

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 Autosomal Recessive Lymphoproliferative Disease. Among its related pathways are TRAF Pathway and Natural Killer Cell Receptors: Human Target Cell – NK Cell Ligand-Receptor Interactions. GO annotations related to this gene include transmembrane signaling receptor activity and cysteine-type endopeptidase inhibitor activity involved in apoptotic process.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD27 Gene

Genomics for CD27 Gene

Regulatory Elements for CD27 Gene

Enhancers for CD27 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G006321 1.5 Ensembl ENCODE dbSUPER 11.5 -119.8 -119774 6.5 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF48 ZNF121 GLIS2 GATA2 FOS VAMP1 LTBR SCNN1A CD27-AS1 TAPBPL CD27 GAPDH ENSG00000255966 IFFO1 CD9
GH12G006391 1.1 Ensembl ENCODE dbSUPER 11.6 -52.4 -52433 2.1 ZNF362 ZBTB40 ATF2 ZBTB49 ZNF121 ZNF791 POLR2A KDM5B SPI1 RBFOX2 LTBR ENSG00000219410 LOC105369628 TNFRSF1A CD27 NCAPD2 SCARNA10 C12orf57 VAMP1 PHB2
GH12G006492 1.1 ENCODE 11.3 +49.3 49271 3.5 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MRPL51 TAPBPL VAMP1 ENSG00000255966 GAPDH CD27-AS1 CD27 IFFO1 TNFRSF1A NOP2
GH12G006425 1.7 FANTOM5 Ensembl ENCODE 7.1 -17.7 -17671 3.5 HDGF HNRNPUL1 PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 ENSG00000219410 NOP2 ENSG00000247853 SCARNA12 ENSG00000256967 PHB2 CD27 CD27-AS1 LRRC23 VAMP1
GH12G006416 0.8 FANTOM5 Ensembl 12.1 -27.9 -27923 1.1 IKZF1 REST MYC SPI1 CHD4 VAMP1 SCNN1A LTBR CD27 TAPBPL CD27-AS1 GAPDH ENSG00000255966 NCAPD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD27 on UCSC Golden Path with GeneCards custom track

Genomic Location for CD27 Gene

Chromosome:
12
Start:
6,444,867 bp from pter
End:
6,451,718 bp from pter
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 StructureGene Density

RefSeq DNA sequence for CD27 Gene

Proteins for CD27 Gene

  • 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

Post-translational modifications for CD27 Gene

Other Protein References for CD27 Gene

Antibody Products

  • Abcam antibodies for CD27

Protein Products

  • Abcam proteins for CD27

Assay Products

  • Cloud-Clone Corp. Assay Kits for CD27

No data available for DME Specific Peptides for CD27 Gene

Domains & Families for CD27 Gene

Protein Domains for CD27 Gene

Suggested Antigen Peptide Sequences for CD27 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for CD27 Gene

Function for CD27 Gene

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.

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:0005031 tumor necrosis factor-activated receptor activity IBA --
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:

Animal Model Products

miRNA for CD27 Gene

miRTarBase miRNAs that target CD27

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CD27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 12624711
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 12324477
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with CD27: view

Pathways & Interactions for CD27 Gene

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

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:0006954 inflammatory response IBA --
GO:0006955 immune response IBA --
GO:0007166 cell surface receptor signaling pathway NAS 14556986
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with CD27: view

Drugs & Compounds for CD27 Gene

(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

mRNA/cDNA for CD27 Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CD27 Gene

CD27 molecule:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
CD27

Expression for CD27 Gene

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



Protein tissue co-expression partners for CD27 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD27 Gene:

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(4.7)
  • Lymph node(3.4)
  • Spleen(3.3)
  • Bone marrow(2.8)
  • Intestine(2.7)
  • Nervous system(2.6)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
Organs:
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

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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia CD27 34 35
  • 83.01 (n)
cow
(Bos Taurus)
Mammalia CD27 34 35
  • 81.5 (n)
rat
(Rattus norvegicus)
Mammalia Cd27 34
  • 76.93 (n)
mouse
(Mus musculus)
Mammalia Cd27 34 16 35
  • 76.8 (n)
oppossum
(Monodelphis domestica)
Mammalia CD27 35
  • 41 (a)
OneToOne
Species where no ortholog for CD27 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CD27 Gene

No data available for Paralogs for CD27 Gene

Variants for CD27 Gene

Sequence variations from dbSNP and Humsavar for CD27 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs397514667 Pathogenic, Lymphoproliferative syndrome 2 (LPFS2) [MIM:615122] 6,445,445(+) GGACT(A/G)TGACC intron-variant, upstream-variant-2KB, reference, missense
rs398122933 Pathogenic 6,445,119(+) TGGTG(A/G)CTGTG intron-variant, upstream-variant-2KB, reference, stop-gained
rs1001010800 -- 6,449,204(+) GTTGG(A/C)CAGGC intron-variant
rs1001127637 -- 6,444,794(+) GAGGC(A/G)GAAAC intron-variant, upstream-variant-2KB
rs1001185463 -- 6,449,537(+) TATTA(A/T)ACTTT intron-variant

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)

Relevant External Links for CD27 Gene

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

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

Disorders for CD27 Gene

MalaCards: The human disease database

(21) MalaCards diseases for CD27 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphoproliferative syndrome 2
  • cd27 deficiency
autosomal recessive lymphoproliferative disease
  • lymphoproliferative syndrome 2
pars planitis
  • posterior cyclitis
precursor b lymphoblastic lymphoma/leukemia
  • b lymphoblastic leukemia/lymphoma
lymphoproliferative syndrome
  • lymphoproliferative disorders
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for CD27

Genetic Association Database (GAD)
CD27
Human Genome Epidemiology (HuGE) Navigator
CD27
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD27
genes like me logo Genes that share disorders with CD27: view

No data available for Genatlas for CD27 Gene

Publications for CD27 Gene

  1. Isolation and regional assignment of human chromosome 12p cDNAs. (PMID: 8530100) Baens M. … Marynen P. (Genomics 1995) 2 3 22 64
  2. Genomic organization and chromosomal localization of the human CD27 gene. (PMID: 1334106) Loenen W.A. … Borst J. (J. Immunol. 1992) 3 4 22 64
  3. 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. (J. Immunol. 1991) 3 4 22 64
  4. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. (PMID: 22801960) Salzer E. … Seidel M.G. (Haematologica 2013) 3 4 64
  5. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. (PMID: 22197273) van Montfrans J.M. … Tesselaar K. (J. Allergy Clin. Immunol. 2012) 3 4 64

Products for CD27 Gene

Sources for CD27 Gene

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