ENSG00000139193


Homo sapiens

Features
Gene ID: ENSG00000139193
  
Biological name :CD27
  
Synonyms : CD27 / CD27 molecule / P26842
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: p13.31
Gene start: 6444867
Gene end: 6451718
  
Corresponding Affymetrix probe sets: 206150_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000266557
NCBI entrez gene - 939     See in Manteia.
OMIM - 186711
RefSeq - XM_017020234
RefSeq - NM_001242
RefSeq - XM_017020232
RefSeq Peptide - NP_001233
swissprot - P26842
Ensembl - ENSG00000139193
  
Related genetic diseases (OMIM): 615122 - Lymphoproliferative syndrome 2, 615122
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Cd27ENSMUSG00000030336Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001368  TNFR/NGFR cysteine-rich region
 IPR022328  Tumour necrosis factor receptor 7
 IPR034000  Tumour necrosis factor receptor 7, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006954 inflammatory response IBA
 biological_processGO:0006955 immune response IBA
 biological_processGO:0007166 cell surface receptor signaling pathway NAS
 biological_processGO:0007275 multicellular organism development IBA
 biological_processGO:0016064 immunoglobulin mediated immune response NAS
 biological_processGO:0032496 response to lipopolysaccharide IBA
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0042127 regulation of cell proliferation IBA
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045579 positive regulation of B cell differentiation NAS
 biological_processGO:0045582 positive regulation of T cell differentiation IEA
 biological_processGO:0046330 positive regulation of JNK cascade IEA
 biological_processGO:0070233 negative regulation of T cell apoptotic process IEA
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IDA
 cellular_componentGO:0005576 extracellular region NAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004888 transmembrane signaling receptor activity NAS
 molecular_functionGO:0005031 tumor necrosis factor-activated receptor activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA


Pathways (from Reactome)
Pathway description
TNFs bind their physiological receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001541 Ascites 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001915 Aplastic anemia 
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 HP:0001945 Fever 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0003828 Variable expressivity 
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0005523 Lymphoproliferative disorder 
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 HP:0012156 Hemophagocytosis "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125726 CD70 / P32970 / CD70 molecule  / complex / reaction






 

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