ENSG00000101017


Homo sapiens

Features
Gene ID: ENSG00000101017
  
Biological name :CD40
  
Synonyms : CD40 / CD40 molecule / P25942
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q13.12
Gene start: 46118272
Gene end: 46129863
  
Corresponding Affymetrix probe sets: 205153_s_at (Human Genome U133 Plus 2.0 Array)   215346_at (Human Genome U133 Plus 2.0 Array)   222292_at (Human Genome U133 Plus 2.0 Array)   35150_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000434825
Ensembl peptide - ENSP00000484074
Ensembl peptide - ENSP00000361350
Ensembl peptide - ENSP00000361359
NCBI entrez gene - 958     See in Manteia.
OMIM - 109535
RefSeq - XM_017028137
RefSeq - NM_001250
RefSeq - NM_001302753
RefSeq - NM_001322421
RefSeq - NM_001322422
RefSeq - NM_152854
RefSeq - XM_005260619
RefSeq - XM_011529109
RefSeq - XM_017028135
RefSeq - XM_017028136
RefSeq Peptide - NP_001289682
RefSeq Peptide - NP_001309350
RefSeq Peptide - NP_001309351
RefSeq Peptide - NP_690593
RefSeq Peptide - NP_001241
swissprot - H0YE23
swissprot - P25942
swissprot - A0A087X1D0
swissprot - A0A0S2Z3C7
Ensembl - ENSG00000101017
  
Related genetic diseases (OMIM): 606843 - Immunodeficiency with hyper-IgM, type 3, 606843
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
 cd40ENSDARG00000054968Danio rerio
 tnfrsf11aENSDARG00000087804Danio rerio
 CD40ENSGALG00000007015Gallus gallus
 Cd40ENSMUSG00000017652Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Y6Q6 / TNFRSF11A / TNF receptor superfamily member 11aENSG0000014165536
LTBR / P36941 / lymphotoxin beta receptorENSG0000011132127
P20333 / TNFRSF1B / TNF receptor superfamily member 1BENSG0000002813727
O75509 / TNFRSF21 / TNF receptor superfamily member 21ENSG0000014607225
Q92956 / TNFRSF14 / TNF receptor superfamily member 14ENSG0000015787323
O00300 / TNFRSF11B / TNF receptor superfamily member 11bENSG0000016476123
O95407 / TNFRSF6B / TNF receptor superfamily member 6bENSG0000024350918


Protein motifs (from Interpro)
Interpro ID Name
 IPR001368  TNFR/NGFR cysteine-rich region
 IPR020435  Tumour necrosis factor receptor 5
 IPR034021  Tumour necrosis factor receptor 5, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001934 positive regulation of protein phosphorylation IMP
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002768 immune response-regulating cell surface receptor signaling pathway IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IMP
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0006955 immune response IBA
 biological_processGO:0007275 multicellular organism development IBA
 biological_processGO:0009617 response to bacterium IEA
 biological_processGO:0030168 platelet activation NAS
 biological_processGO:0030890 positive regulation of B cell proliferation IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032496 response to lipopolysaccharide IBA
 biological_processGO:0032735 positive regulation of interleukin-12 production IEA
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0033590 response to cobalamin IEA
 biological_processGO:0034341 response to interferon-gamma IEA
 biological_processGO:0036018 cellular response to erythropoietin IEA
 biological_processGO:0042100 B cell proliferation NAS
 biological_processGO:0042113 B cell activation IEA
 biological_processGO:0042127 regulation of cell proliferation IBA
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IMP
 biological_processGO:0042832 defense response to protozoan IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
 biological_processGO:0043406 positive regulation of MAP kinase activity IMP
 biological_processGO:0043491 protein kinase B signaling IEA
 biological_processGO:0043536 positive regulation of blood vessel endothelial cell migration IMP
 biological_processGO:0043547 positive regulation of GTPase activity IMP
 biological_processGO:0045766 positive regulation of angiogenesis IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0048304 positive regulation of isotype switching to IgG isotypes IEA
 biological_processGO:0050776 regulation of immune response IEA
 biological_processGO:0051023 regulation of immunoglobulin secretion IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IMP
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0065003 protein-containing complex assembly TAS
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEP
 biological_processGO:0071347 cellular response to interleukin-1 IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0090037 positive regulation of protein kinase C signaling IMP
 biological_processGO:0097190 apoptotic signaling pathway IBA
 biological_processGO:1901652 response to peptide IEA
 biological_processGO:2000353 positive regulation of endothelial cell apoptotic process IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0035631 CD40 receptor complex ISS
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043196 varicosity IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003823 antigen binding IEA
 molecular_functionGO:0004871 obsolete signal transducer activity TAS
 molecular_functionGO:0005031 tumor necrosis factor-activated receptor activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0001875 Neutropenia 
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 HP:0002718 Recurrent bacterial infections 
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 HP:0002720 Decreased IgA 
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 HP:0002721 Immunodeficiency 
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 HP:0002847 Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation 
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 HP:0002849 Lymph nodes lack germinal centers 
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 HP:0002959 Impaired Ig class switch recombination (CSR) 
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 HP:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
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 HP:0004315 Decreased IgG level "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0005479 Decreased IgE 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110330 BIRC2 / Q13490 / baculoviral IAP repeat containing 2  / complex / reaction
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / complex / reaction
 ENSG00000023445 BIRC3 / Q13489 / baculoviral IAP repeat containing 3  / reaction / complex
 ENSG00000131323 TRAF3 / Q13114 / TNF receptor associated factor 3  / reaction / complex
 ENSG00000006062 Q99558 / MAP3K14 / mitogen-activated protein kinase kinase kinase 14  / complex / reaction
 ENSG00000102245 CD40LG / P29965 / CD40 ligand  / complex / reaction
 ENSG00000101017 CD40 / P25942 / CD40 molecule  / complex






 

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