HEXIM2
HEXIM P-TEFb complex subunit 2
Summary
This gene encodes a member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371648164 | 17:43,240,224 | A/G | — | uncertain significance |
| rs36160143 | 17:43,244,389 | C/G | — | — |
| rs556056680 | 17:43,246,484 | G/C | — | uncertain significance |
| rs771049148 | 17:43,246,596 | G/T | — | uncertain significance |
| rs911928287 | 17:43,246,793 | G/A | — | uncertain significance |
| rs780471128 | 17:43,246,813 | C/G | — | uncertain significance |
| rs140049495 | 17:43,246,841 | G/A | — | uncertain significance |
| rs775048819 | 17:43,246,907 | G/C | — | uncertain significance |
| rs199876305 | 17:43,246,947 | A/G | — | uncertain significance |
| rs1019445820 | 17:43,246,968 | T/G | — | uncertain significance |
| rs780957322 | 17:43,247,067 | A/G | — | uncertain significance |
| rs1045858509 | 17:43,247,072 | G/T | — | uncertain significance |
| rs541059400 | 17:43,247,094 | G/A | — | uncertain significance |
| rs73319052 | 17:43,247,108 | C/T | — | uncertain significance |
| rs200017941 | 17:43,247,151 | G/T | — | uncertain significance |
| rs747523626 | 17:43,247,157 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.