ENSG00000186827


Homo sapiens

Features
Gene ID: ENSG00000186827
  
Biological name :TNFRSF4
  
Synonyms : P43489 / TNF receptor superfamily member 4 / TNFRSF4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.33
Gene start: 1211326
Gene end: 1214138
  
Corresponding Affymetrix probe sets: 208023_at (Human Genome U133 Plus 2.0 Array)   214228_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368538
NCBI entrez gene - 7293     See in Manteia.
OMIM - 600315
RefSeq - XM_017002232
RefSeq - NM_003327
RefSeq - XM_011542076
RefSeq - XM_017002231
RefSeq - XM_011542074
RefSeq - XM_011542075
RefSeq Peptide - NP_003318
swissprot - P43489
Ensembl - ENSG00000186827
  
Related genetic diseases (OMIM): 615593 - ?Immunodeficiency 16, 615593
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
 Tnfrsf4ENSMUSG00000029075Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001368  TNFR/NGFR cysteine-rich region
 IPR011641  Tyrosine-protein kinase ephrin type A/B receptor-like
 IPR020445  Tumour necrosis factor receptor 4
 IPR034022  Tumour necrosis factor receptor 4, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006954 inflammatory response IBA
 biological_processGO:0006955 immune response TAS
 biological_processGO:0007275 multicellular organism development IBA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030890 positive regulation of B cell proliferation ISS
 biological_processGO:0032496 response to lipopolysaccharide IBA
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0042098 T cell proliferation IEA
 biological_processGO:0042127 regulation of cell proliferation IBA
 biological_processGO:0042981 regulation of apoptotic process IBA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity ISS
 biological_processGO:0045892 negative regulation of transcription, DNA-templated ISS
 biological_processGO:0046718 viral entry into host cell IEA
 biological_processGO:0051024 positive regulation of immunoglobulin secretion ISS
 biological_processGO:0097190 apoptotic signaling pathway IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0005031 tumor necrosis factor-activated receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI


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:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001876 Pancytopenia 
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 HP:0002721 Immunodeficiency 
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 HP:0003621 Juvenile onset 
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 HP:0004844 coombs-positive hemolytic anemia 
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 HP:0100726 Kaposi s sarcoma "A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi s sarcoma-associated herpesvirus (KSHV)." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000117586 P23510 / TNFSF4 / TNF superfamily member 4  / reaction / complex
 ENSG00000186827 P43489 / TNFRSF4 / TNF receptor superfamily member 4  / reaction / complex






 

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