CD27 (CD27 molecule)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 939
Gene name CD27 molecule
Gene symbol CD27
Synonyms (NCBI Gene)
S152S152. LPFS2T14TNFRSF7Tp55
Chromosome 12
Chromosome location 12p13.31
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 immunogl
miRNA miRNA information provided by mirtarbase database.
25
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
miRTarBase ID miRNA Experiments Reference
MIRT017732 hsa-miR-335-5p Microarray 18185580
MIRT874408 hsa-miR-1301 CLIP-seq
MIRT874409 hsa-miR-130a CLIP-seq
MIRT874410 hsa-miR-130b CLIP-seq
MIRT874411 hsa-miR-142-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IDA 28011863
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004888 Function Transmembrane signaling receptor activity NAS 14556986
GO:0005515 Function Protein binding IPI 9177220, 9692890, 12324477, 16683188, 25910212, 32296183, 32814053, 33961781, 36217029
GO:0005576 Component Extracellular region NAS 12624711
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
186711 11922 ENSG00000139193
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26842
Protein name CD27 antigen (CD27L receptor) (T-cell activation antigen CD27) (T14) (Tumor necrosis factor receptor superfamily member 7) (CD antigen CD27)
Protein function Costimulatory immune-checkpoint receptor expressed at the surface of T-cells, NK-cells and B-cells which binds to and is activated by its ligand CD70/CD27L expressed by B-cells (PubMed:28011863). The CD70-CD27 signaling pathway mediates antigen-
PDB 5TL5 , 5TLJ , 5TLK , 7KX0 , 8DS5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00020 TNFR_c6 65 → 104 TNFR/NGFR cysteine-rich region Domain
Tissue specificity TISSUE SPECIFICITY: Found in most T-lymphocytes. {ECO:0000269|PubMed:1655907}.
Sequence 
MARPHPWWLCVLGTLVGLSATPAPKSCPERHYWAQGKLCCQMCEPGTFLVKDCDQHRKAA
QCDPCIPGVSFSPDHHTRPHCESCRHCNSGLLVRNCTITANAECACRNGWQCRDKECTEC
DPLPNPSLTARSSQALSPHPQPTHLPYVSEMLEARTAGHMQTLADFRQLPARTLSTHWPP
QRSLCSSDFIRILVIFSGMFLVFTLAGALFLHQRRKYRSNKGESPVEPAEPCHYSCPREE
EGSTIPIQEDYRKPEPACSP
Sequence length 260
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction   TNFs bind their physiological receptors
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
202
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined immunodeficiency Pathogenic rs1592117677 RCV001027555
Immunodeficiency Pathogenic rs1592117677 RCV001027556
Lymphoproliferative syndrome 2 Likely pathogenic; Pathogenic rs1949504456, rs1179448549, rs2498138493, rs2498108640, rs2498141484, rs398122933, rs397514667, rs748418658, rs781593353 RCV005094656
RCV001824244
RCV002734801
RCV003051666
RCV003655793
RCV000033859
RCV000033860
RCV000701415
RCV003769019
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammatory syndrome Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs2136971508, rs34540052, rs11830902, rs202127301, rs146726863, rs75524088 RCV002264597
RCV002263794
RCV002263793
RCV002264068
RCV002264170
RCV002264227
CD27-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity rs2498104573, rs34540052, rs202127301 RCV003899587
RCV003980010
RCV003940814
Show/Hide Text Mining Associations (187)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Inhibit 16721821
Acute On Chronic Liver Failure Stimulate 36505417
Adenocarcinoma Associate 35986757
Adenocarcinoma of Lung Associate 32549766
Agammaglobulinemia Associate 22197273, 22801960, 32041749
Alopecia Areata Associate 20546884
Amyloidosis Associate 15388584
Anemia Aplastic Associate 22197273
Anti N Methyl D Aspartate Receptor Encephalitis Associate 38063052
Antiphospholipid Syndrome Associate 33103514