CD38
CD38 molecule
Summary
The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs781666306 | 4:15,780,071 | G/A | — | uncertain significance |
| rs550670064 | 4:15,780,215 | C/T | — | uncertain significance |
| rs78580781 | 4:15,780,247 | C/T | — | benign |
| rs2474445799 | 4:15,780,263 | G/C | — | uncertain significance |
| rs6449182 | 4:15,780,453 | C/G | regulatory region variant | — |
| rs114713438 | 4:15,799,764 | C/G | intron variant | — |
| rs188216762 | 4:15,800,790 | C/T | intron variant | — |
| rs111588037 | 4:15,803,582 | C/T | intron variant | — |
| rs183041500 | 4:15,809,178 | G/A | intron variant | — |
| rs1800561 | 4:15,826,558 | C/T | missense variant | — |
| rs1560316530 | 4:15,826,565 | T/C | — | uncertain significance |
| rs2474496892 | 4:15,826,598 | T/C | — | uncertain significance |
| rs188213195 | 4:15,835,535 | C/T | intron variant | — |
| rs201816957 | 4:15,835,876 | A/G | — | uncertain significance |
| rs2474504976 | 4:15,835,923 | A/G | — | uncertain significance |
| rs11724146 | 4:15,836,695 | C/G | intron variant | — |
| rs772898980 | 4:15,839,754 | A/C | — | uncertain significance |
| rs950566 | 4:15,839,793 | A/G | — | benign |
| rs768378089 | 4:15,842,088 | G/C | — | uncertain significance |
| rs201320129 | 4:15,842,090 | T/G | — | likely benign |
| rs2474510309 | 4:15,842,092 | C/T | — | uncertain significance |
| rs772248233 | 4:15,842,113 | C/T | — | likely benign |
| rs1004124 | 4:15,849,588 | C/G | regulatory region variant | — |
| rs3796863 | 4:15,849,986 | G/A | — | — |
| rs747945401 | 4:15,850,220 | A/T | — | uncertain significance |
| rs182844391 | 4:15,853,166 | G/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.