JAKMIP2
janus kinase and microtubule interacting protein 2
Summary
The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748615071 | 5:146,997,496 | T/A | — | uncertain significance |
| rs763421660 | 5:147,009,297 | G/A | — | uncertain significance |
| rs147081668 | 5:147,012,313 | C/T | — | uncertain significance |
| rs1364972545 | 5:147,019,229 | G/A | — | uncertain significance |
| rs758408526 | 5:147,020,348 | G/C | — | uncertain significance |
| rs749668374 | 5:147,023,647 | G/T | — | uncertain significance |
| rs754943679 | 5:147,023,721 | T/C | — | uncertain significance |
| rs766979419 | 5:147,023,734 | G/T | — | uncertain significance |
| rs770100906 | 5:147,024,507 | T/C | — | uncertain significance |
| rs2479735945 | 5:147,027,954 | A/T | — | uncertain significance |
| rs2479735966 | 5:147,027,956 | C/T | — | uncertain significance |
| rs199810705 | 5:147,028,032 | C/A | — | uncertain significance |
| rs769906120 | 5:147,029,968 | T/C | — | uncertain significance |
| rs138568411 | 5:147,030,101 | T/C | — | uncertain significance |
| rs765855494 | 5:147,040,738 | T/C | — | uncertain significance |
| rs540737599 | 5:147,040,754 | T/G | — | uncertain significance |
| rs141631478 | 5:147,040,773 | C/T | — | uncertain significance |
| rs147717962 | 5:147,040,962 | C/T | — | uncertain significance |
| rs2479786666 | 5:147,040,974 | G/A | — | uncertain significance |
| rs765674126 | 5:147,051,324 | T/C | — | uncertain significance |
| rs6895952 | 5:147,101,301 | C/G | — | — |
| rs866229427 | 5:147,127,932 | G/A | — | — |
| rs188904275 | 5:147,129,599 | A/G | intron variant | — |
| rs115318065 | 5:147,152,850 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.