BTN2A2
butyrophilin subfamily 2 member A2
Summary
Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73736234 | 6:26,384,060 | C/T | — | benign |
| rs1448323250 | 6:26,384,062 | G/A | — | uncertain significance |
| rs546542545 | 6:26,384,092 | C/T | — | uncertain significance |
| rs761697958 | 6:26,384,096 | T/C | — | uncertain significance |
| rs115247877 | 6:26,384,106 | G/A | — | benign |
| rs2072806 | 6:26,385,093 | C/G | intron variant | — |
| rs773171471 | 6:26,385,260 | G/T | — | uncertain significance |
| rs57038103 | 6:26,385,263 | C/A | — | uncertain significance |
| rs765416895 | 6:26,385,291 | G/T | — | uncertain significance |
| rs181037825 | 6:26,385,326 | G/A | — | uncertain significance |
| rs757583139 | 6:26,385,333 | A/C | — | uncertain significance |
| rs368009368 | 6:26,385,354 | G/A | — | uncertain significance |
| rs759388758 | 6:26,385,380 | G/A | — | uncertain significance |
| rs749190145 | 6:26,385,459 | G/T | — | uncertain significance |
| rs143017993 | 6:26,385,502 | C/T | — | likely benign |
| rs1047136259 | 6:26,385,507 | C/T | — | uncertain significance |
| rs555925050 | 6:26,385,530 | C/T | — | uncertain significance |
| rs2533062806 | 6:26,385,545 | G/A | — | uncertain significance |
| rs552051206 | 6:26,385,559 | C/T | — | likely benign |
| rs769740966 | 6:26,385,575 | C/T | — | uncertain significance |
| rs749486072 | 6:26,385,578 | C/A | — | uncertain significance |
| rs142227365 | 6:26,388,233 | C/G | — | likely benign |
| rs770889479 | 6:26,388,357 | G/A | — | likely benign |
| rs144410497 | 6:26,388,372 | G/T | — | likely benign |
| rs62617839 | 6:26,388,405 | A/G | — | benign |
| rs370196656 | 6:26,388,425 | A/G | — | likely benign |
| rs145439434 | 6:26,388,463 | C/A | — | uncertain significance |
| rs373346354 | 6:26,388,489 | G/A | — | uncertain significance |
| rs779560847 | 6:26,390,268 | G/A | — | uncertain significance |
| rs531803629 | 6:26,390,288 | C/T | — | likely benign |
| rs113893469 | 6:26,390,307 | T/G | — | benign |
| rs764083633 | 6:26,390,333 | C/A | — | likely benign |
| rs896273790 | 6:26,390,353 | G/A | — | uncertain significance |
| rs377607368 | 6:26,390,912 | C/T | — | likely benign |
| rs2237235 | 6:26,391,395 | A/G | — | — |
| rs2072803 | 6:26,392,515 | G/C | — | benign |
| rs147646031 | 6:26,392,603 | C/T | — | uncertain significance |
| rs761120469 | 6:26,392,626 | A/G | — | uncertain significance |
| rs142803339 | 6:26,392,629 | G/A | — | benign |
| rs138172438 | 6:26,392,638 | G/A | — | uncertain significance |
| rs748274583 | 6:26,392,675 | G/A | — | uncertain significance |
| rs776923192 | 6:26,392,718 | C/T | — | likely benign |
| rs780036037 | 6:26,392,755 | G/A | — | uncertain significance |
| rs949646105 | 6:26,392,767 | C/G | — | uncertain significance |
| rs2533123136 | 6:26,392,775 | G/C | — | uncertain significance |
| rs140196606 | 6:26,392,799 | G/T | — | uncertain significance |
| rs149403458 | 6:26,392,801 | T/A | — | uncertain significance |
| rs148562624 | 6:26,392,824 | C/G | — | likely benign |
| rs62617840 | 6:26,392,905 | C/T | — | benign |
| rs199832316 | 6:26,392,911 | C/G | — | uncertain significance |
| rs201353973 | 6:26,392,957 | G/C | — | uncertain significance |
| rs147634987 | 6:26,392,984 | C/T | — | uncertain significance |
| rs111615265 | 6:26,393,002 | A/G | — | benign |
| rs775387988 | 6:26,393,005 | A/T | — | uncertain significance |
| rs1614887 | 6:26,393,021 | A/G | — | benign |
| rs769249239 | 6:26,393,052 | A/T | — | likely benign |
| rs16891646 | 6:26,393,058 | C/T | — | benign |
| rs766498510 | 6:26,393,107 | T/C | — | uncertain significance |
| rs143694906 | 6:26,393,140 | T/C | — | likely benign |
| rs114098566 | 6:26,393,148 | G/A | — | uncertain significance |
| rs73736249 | 6:26,393,161 | A/C | — | benign |
| rs373476294 | 6:26,395,210 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.