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Cd40 Gene Detail
Summary
  • Symbol
    Cd40
  • Name
    CD40 antigen
  • Synonyms
    Bp50, Cd40, p50, Tnfrsf5
  • Feature Type
    protein coding gene
  • IDs
    MGI:88336
    NCBI Gene: 21939
  • Gene Overview
    MyGene.info: CD40
Location & Maps
more
  • Sequence Map
    Chr2:165055627-165072948 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17322 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 85.38 cM
  • Mapping Data
    20 experiments
Homology
more
  • Human Ortholog
    CD40, CD40 molecule
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CD40, CD40 molecule
    Orthology source: HomoloGene
  • Synonyms
    Bp50, CDW40, p50, TNFRSF5
  • Links
    NCBI Gene ID: 958
    neXtProt AC: NX_P25942

  • Chr Location
    20q12-q13.2; chr20:46118250-46129745 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CD40 associations

Human Disease Mouse Models
       Immunodeficiency with Hyper-Igm, Type 3; HIGM3   OMIM: 606843
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 4 alleles in 6 genetic backgrounds
    37 phenotypes from multigenic genotypes
    3 images
    212 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    8
  • Transgenic
    1
  • Incidental Mutations
Homozygous inactivation of this gene may cause impaired immunoglobulin class switching and germinal center formation, reduced susceptibility to type II hypersensitivity reaction, impaired priming of T cells and control of M. tuberculosis infection, and altered response to transplant.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016424 VEGA Gene Model | MGI Sequence Detail 17322 C57BL/6J ±  kb
transcript OTTMUST00000039545 VEGA | MGI Sequence Detail 2986 Not Applicable  
polypeptide OTTMUSP00000017667 VEGA | MGI Sequence Detail 289 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    144 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000001961 tumor necrosis factor receptor superfamily member 5
  • InterPro Domains
    IPR001368 TNFR/NGFR cysteine-rich region
    IPR020435 Tumour necrosis factor receptor 5
Molecular
Reagents
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  • All nucleic 35
    Genomic 10
    cDNA 24
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-1859, MGI:2138913
References
more
  • Summaries
    All 362
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 26
    Phenotypes 212
  • Earliest
    J:3170 Morse HC 3rd, Genetic nomenclature for loci controlling surface antigens of mouse hemopoietic cells [published erratum appears in J Immunol 1993 Mar 15;150(6):2563]. J Immunol. 1992 Nov 15;149(10):3129-34
  • Latest
    J:230280 Portillo JA, et al., Proinflammatory responses induced by CD40 in retinal endothelial and Muller cells are inhibited by blocking CD40-Traf2,3 or CD40-Traf6 signaling. Invest Ophthalmol Vis Sci. 2014 Dec;55(12):8590-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory