CD207
CD207 molecule
Summary
The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143317220 | 2:71,050,937 | A/T | upstream gene variant | — |
| rs13421115 | 2:71,058,184 | T/C | — | benign |
| rs2466048564 | 2:71,058,188 | T/G | — | uncertain significance |
| rs1677454575 | 2:71,058,201 | A/G | — | uncertain significance |
| rs146608670 | 2:71,058,206 | C/A | — | uncertain significance |
| rs2080390 | 2:71,058,226 | C/T | — | benign |
| rs2080391 | 2:71,058,270 | C/G | missense variant | — |
| rs2466048920 | 2:71,058,287 | T/G | — | uncertain significance |
| rs13383830 | 2:71,058,306 | T/C | missense variant | — |
| rs782253931 | 2:71,058,308 | T/C | — | uncertain significance |
| rs371184954 | 2:71,058,320 | G/A | — | uncertain significance |
| rs741326 | 2:71,058,835 | A/G | missense variant | benign |
| rs374742141 | 2:71,058,859 | G/A | — | uncertain significance |
| rs200837270 | 2:71,058,878 | A/G | missense variant | uncertain significance |
| rs1553399864 | 2:71,058,925 | C/A | — | uncertain significance |
| rs527591997 | 2:71,058,931 | G/A | — | uncertain significance |
| rs6712863 | 2:71,060,037 | A/G | — | benign |
| rs868927682 | 2:71,060,117 | G/C | — | uncertain significance |
| rs2466053913 | 2:71,060,164 | A/G | — | uncertain significance |
| rs781829207 | 2:71,060,175 | A/C | — | uncertain significance |
| rs551434216 | 2:71,060,782 | C/T | — | likely benign |
| rs2466055016 | 2:71,060,816 | C/T | — | likely benign |
| rs2466055084 | 2:71,060,830 | A/G | — | uncertain significance |
| rs17718987 | 2:71,060,936 | G/C | — | benign |
| rs782591870 | 2:71,060,940 | G/A | — | uncertain significance |
| rs374206558 | 2:71,060,953 | A/C | — | uncertain significance |
| rs185940860 | 2:71,060,987 | C/T | — | uncertain significance |
| rs72836219 | 2:71,061,001 | T/A | — | benign |
| rs200049779 | 2:71,061,010 | A/G | — | likely benign |
| rs782392811 | 2:71,061,023 | C/T | — | uncertain significance |
| rs199819493 | 2:71,061,106 | T/C | — | uncertain significance |
| rs17662453 | 2:71,061,108 | A/G | — | benign |
| rs72911708 | 2:71,061,145 | C/T | — | benign |
| rs781984976 | 2:71,061,146 | G/A | — | likely benign |
| rs201227431 | 2:71,062,629 | G/A | — | likely benign |
| rs10489990 | 2:71,062,648 | A/G | — | benign |
| rs781983818 | 2:71,062,649 | C/T | — | uncertain significance |
| rs782778641 | 2:71,062,663 | G/A | — | uncertain significance |
| rs782342629 | 2:71,062,700 | T/C | — | uncertain significance |
| rs782661152 | 2:71,062,852 | T/A | — | uncertain significance |
| rs1677603167 | 2:71,062,861 | T/G | — | uncertain significance |
| rs4852708 | 2:71,063,942 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.