CD27 (CD27 molecule)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
939
Gene name Gene Name - the full gene name approved by the HGNC.
CD27 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD27
Synonyms (NCBI Gene) Gene synonyms aliases
S152, S152. LPFS2, T14, TNFRSF7, Tp55
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez 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 immunogl
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
186711 11922 ENSG00000139193
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
immunodeficiency Immunodeficiency rs1592117677 N/A
Lymphoproliferative Disorder lymphoproliferative syndrome 2 rs398122933, rs397514667, rs748418658, rs781593353 N/A
Severe combined immunodeficiency disease combined immunodeficiency rs1592117677 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autoinflammatory Disease Autoinflammatory syndrome N/A N/A ClinVar
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Show/Hide Text Mining Associations (187)
Associations from Text Mining Disease 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