CD40
CD40 molecule
Summary
This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]
Known Variants232 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1800686 | 20:44,746,403 | G/T | — | — |
| rs752118 | 20:44,746,738 | C/T | regulatory region variant | benign |
| rs575088069 | 20:44,746,916 | G/T | — | uncertain significance |
| rs542745249 | 20:44,746,922 | G/T | — | uncertain significance |
| rs573086622 | 20:44,746,928 | C/G | — | uncertain significance |
| rs11569301 | 20:44,746,942 | C/T | — | benign |
| rs1883832 | 20:44,746,982 | T/C | regulatory region variant | benign |
| rs1336243656 | 20:44,746,991 | T/C | — | likely benign |
| rs2085251787 | 20:44,746,994 | G/T | — | likely benign |
| rs113207193 | 20:44,747,004 | T/G | — | uncertain significance |
| rs1481881300 | 20:44,747,006 | C/T | — | likely benign |
| rs2515699609 | 20:44,747,009 | C/G | — | likely benign |
| rs1211645093 | 20:44,747,015 | G/A | — | pathogenic |
| rs2515699668 | 20:44,747,027 | G/A | — | likely benign |
| rs1008453074 | 20:44,747,030 | C/T | — | likely benign |
| rs770177808 | 20:44,747,031 | G/T | — | uncertain significance |
| rs773611902 | 20:44,747,040 | T/C | — | uncertain significance |
| rs2515699709 | 20:44,747,048 | C/T | — | likely benign |
| rs375622419 | 20:44,747,049 | C/T | — | likely benign |
| rs2515699716 | 20:44,747,050 | C/T | — | likely benign |
| rs2515699729 | 20:44,747,052 | G/A | — | likely benign |
| rs774291557 | 20:44,747,053 | A/G | — | likely benign |
| rs745307 | 20:44,747,086 | A/G | — | benign |
| rs11569302 | 20:44,747,104 | C/T | — | benign |
| rs4810485 | 20:44,747,947 | T/G | regulatory region variant | — |
| rs1535045 | 20:44,748,099 | C/T | regulatory region variant | — |
| rs4239702 | 20:44,749,251 | T/C | intron variant | — |
| rs61508870 | 20:44,750,440 | T/C | — | likely benign |
| rs187683423 | 20:44,750,444 | C/T | — | likely benign |
| rs749720262 | 20:44,750,446 | A/G | — | uncertain significance |
| rs1472343123 | 20:44,750,449 | C/A | — | likely benign |
| rs771363187 | 20:44,750,461 | C/G | — | conflicting classifications of pathogenicity |
| rs1204102934 | 20:44,750,464 | T/C | — | likely benign |
| rs2515706964 | 20:44,750,476 | C/T | — | likely benign |
| rs147677886 | 20:44,750,480 | G/T | — | uncertain significance |
| rs775472655 | 20:44,750,482 | A/G | — | likely benign |
| rs2515707014 | 20:44,750,485 | C/T | — | likely benign |
| rs2145590363 | 20:44,750,496 | A/G | — | uncertain significance |
| rs2145590403 | 20:44,750,501 | C/T | — | likely benign |
| rs2145590458 | 20:44,750,508 | A/G | — | uncertain significance |
| rs2515707168 | 20:44,750,523 | C/T | — | uncertain significance |
| rs1350784951 | 20:44,750,525 | T/C | — | likely benign |
| rs2085325773 | 20:44,750,527 | G/A | — | likely benign |
| rs751549823 | 20:44,750,530 | C/T | — | likely benign |
| rs2085325980 | 20:44,750,536 | A/G | — | uncertain significance |
| rs754914712 | 20:44,750,551 | C/T | — | likely benign |
| rs11569317 | 20:44,750,850 | C/G | — | benign |
| rs1265020832 | 20:44,750,861 | A/C | — | likely benign |
| rs574178493 | 20:44,750,862 | T/C | — | likely benign |
| rs1323500867 | 20:44,750,873 | A/T | — | likely benign |
| rs1299633835 | 20:44,750,887 | G/A | — | uncertain significance |
| rs541686651 | 20:44,750,888 | T/C | — | benign |
| rs767422189 | 20:44,750,897 | A/T | — | likely benign |
| rs2515708304 | 20:44,750,898 | G/T | — | pathogenic |
| rs752136889 | 20:44,750,906 | T/C | — | likely benign |
| rs2515708337 | 20:44,750,909 | A/G | — | likely benign |
| rs2515708347 | 20:44,750,911 | C/T | — | conflicting classifications of pathogenicity |
| rs115724543 | 20:44,750,912 | G/A | — | likely benign |
| rs753518969 | 20:44,750,927 | C/T | — | likely benign |
| rs756898850 | 20:44,750,928 | G/A | — | uncertain significance |
| rs1261429888 | 20:44,750,929 | G/A | — | uncertain significance |
| rs202208745 | 20:44,750,936 | C/T | — | likely benign |
| rs746276099 | 20:44,750,942 | C/T | — | likely benign |
| rs142258778 | 20:44,750,945 | A/G | — | likely benign |
| rs2145592034 | 20:44,750,949 | A/G | — | uncertain significance |
| rs1367438937 | 20:44,750,978 | G/A | — | likely benign |
| rs2085335191 | 20:44,750,981 | C/T | — | likely benign |
| rs28931586 | 20:44,750,988 | T/C | missense variant | pathogenic |
| rs776893342 | 20:44,750,990 | C/T | — | conflicting classifications of pathogenicity |
| rs748382649 | 20:44,750,993 | C/T | — | likely benign |
| rs2515708647 | 20:44,750,995 | C/T | — | uncertain significance |
| rs774195387 | 20:44,750,999 | T/C | — | conflicting classifications of pathogenicity |
| rs759254919 | 20:44,751,001 | C/T | — | uncertain significance |
| rs2515708666 | 20:44,751,002 | G/A | — | uncertain significance |
| rs764765069 | 20:44,751,004 | G/A | — | likely benign |
| rs775430615 | 20:44,751,005 | C/T | — | conflicting classifications of pathogenicity |
| rs763562583 | 20:44,751,011 | T/C | — | likely benign |
| rs1294159298 | 20:44,751,013 | G/A | — | likely benign |
| rs923172384 | 20:44,751,017 | A/G | — | likely benign |
| rs11569319 | 20:44,751,106 | G/A | — | benign |
| rs2515709381 | 20:44,751,230 | C/T | — | likely benign |
| rs2515709400 | 20:44,751,233 | G/A | — | likely benign |
| rs571974174 | 20:44,751,236 | C/T | — | likely benign |
| rs369901991 | 20:44,751,241 | C/T | — | likely benign |
| rs1568906348 | 20:44,751,247 | A/T | — | pathogenic |
| rs768637864 | 20:44,751,251 | C/G | — | uncertain significance |
| rs144542285 | 20:44,751,260 | C/T | — | uncertain significance |
| rs761229326 | 20:44,751,261 | G/A | — | uncertain significance |
| rs750063104 | 20:44,751,264 | T/C | — | uncertain significance |
| rs763334863 | 20:44,751,280 | C/A | — | likely benign |
| rs752031207 | 20:44,751,283 | A/G | — | likely benign |
| rs755540822 | 20:44,751,285 | A/T | — | uncertain significance |
| rs1171596083 | 20:44,751,303 | C/T | — | uncertain significance |
| rs2145593185 | 20:44,751,307 | T/C | — | likely benign |
| rs564200263 | 20:44,751,321 | A/G | — | uncertain significance |
| rs771189629 | 20:44,751,322 | C/T | — | likely benign |
| rs779810076 | 20:44,751,327 | C/T | — | uncertain significance |
| rs267605960 | 20:44,751,328 | G/A | — | likely benign |
| rs886056717 | 20:44,751,331 | T/C | — | conflicting classifications of pathogenicity |
| rs537489349 | 20:44,751,336 | C/T | — | uncertain significance |
Showing 100 of 232 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.