NEK3
NIMA related kinase 3
Summary
This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1474802859 | 13:52,707,928 | G/A | — | uncertain significance |
| rs766275462 | 13:52,710,278 | G/T | — | uncertain significance |
| rs2547514312 | 13:52,710,311 | A/G | — | uncertain significance |
| rs1956204457 | 13:52,710,321 | T/C | — | uncertain significance |
| rs2547514468 | 13:52,710,357 | T/C | — | uncertain significance |
| rs267603848 | 13:52,711,013 | C/A | — | uncertain significance |
| rs2547522493 | 13:52,718,086 | T/A | — | uncertain significance |
| rs146936497 | 13:52,718,182 | G/A | intron variant | — |
| rs201408940 | 13:52,718,828 | C/T | — | uncertain significance |
| rs34077016 | 13:52,718,855 | G/A | — | uncertain significance |
| rs539917921 | 13:52,718,857 | G/A | — | uncertain significance |
| rs555356464 | 13:52,718,890 | G/A | — | uncertain significance |
| rs760462632 | 13:52,718,962 | G/A | — | uncertain significance |
| rs200211291 | 13:52,722,552 | G/T | — | uncertain significance |
| rs958541097 | 13:52,725,296 | G/A | — | uncertain significance |
| rs1327818663 | 13:52,725,329 | T/C | — | uncertain significance |
| rs377200942 | 13:52,725,362 | A/G | — | uncertain significance |
| rs921479941 | 13:52,725,467 | G/T | — | uncertain significance |
| rs779779142 | 13:52,725,472 | C/T | — | uncertain significance |
| rs376596599 | 13:52,726,755 | T/C | — | uncertain significance |
| rs138876819 | 13:52,726,773 | G/A | — | uncertain significance |
| rs1214224774 | 13:52,726,806 | T/C | — | uncertain significance |
| rs759881847 | 13:52,728,044 | A/G | — | uncertain significance |
| rs779199072 | 13:52,728,100 | T/A | — | uncertain significance |
| rs1323011954 | 13:52,728,127 | G/C | — | uncertain significance |
| rs201880627 | 13:52,730,298 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.