CENPM
centromere protein M
Summary
The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7287486 | 22:42,322,854 | G/A | — | — |
| rs143290435 | 22:42,327,050 | G/C | upstream gene variant | — |
| rs774792724 | 22:42,335,128 | C/T | — | uncertain significance |
| rs994685502 | 22:42,335,158 | C/G | — | uncertain significance |
| rs5758511 | 22:42,336,172 | G/C | regulatory region variant | — |
| rs6002551 | 22:42,338,152 | G/A | intron variant | — |
| rs774192787 | 22:42,339,624 | C/T | — | uncertain significance |
| rs747116151 | 22:42,339,676 | G/A | — | uncertain significance |
| rs142733428 | 22:42,339,700 | G/A | — | uncertain significance |
| rs7293091 | 22:42,341,308 | A/G | splice region variant | — |
| rs749536473 | 22:42,343,065 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.