CEBPZ
CCAAT enhancer binding protein zeta
Summary
This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 2020]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770601107 | 2:37,428,950 | T/C | — | uncertain significance |
| rs1480862603 | 2:37,428,964 | T/G | — | uncertain significance |
| rs915357706 | 2:37,429,930 | C/T | — | uncertain significance |
| rs1400432198 | 2:37,429,955 | C/T | — | uncertain significance |
| rs746619114 | 2:37,429,957 | T/A | — | uncertain significance |
| rs377255620 | 2:37,429,962 | A/G | — | uncertain significance |
| rs114055987 | 2:37,436,185 | C/G | coding sequence variant | — |
| rs140432204 | 2:37,438,154 | C/G | — | uncertain significance |
| rs2465609697 | 2:37,438,179 | T/G | — | uncertain significance |
| rs758525915 | 2:37,439,059 | T/A | — | uncertain significance |
| rs757541050 | 2:37,439,070 | T/C | — | uncertain significance |
| rs754257607 | 2:37,439,131 | A/C | — | uncertain significance |
| rs779235292 | 2:37,439,150 | T/C | — | uncertain significance |
| rs2465613802 | 2:37,439,151 | C/T | — | uncertain significance |
| rs544897966 | 2:37,439,494 | C/T | — | uncertain significance |
| rs367974344 | 2:37,439,526 | T/C | — | uncertain significance |
| rs2465625677 | 2:37,442,051 | C/T | — | uncertain significance |
| rs752301019 | 2:37,443,291 | T/C | — | uncertain significance |
| rs140521893 | 2:37,443,294 | C/T | — | uncertain significance |
| rs769818163 | 2:37,443,341 | A/C | — | uncertain significance |
| rs762807368 | 2:37,443,345 | G/C | — | uncertain significance |
| rs773342568 | 2:37,443,464 | C/T | — | uncertain significance |
| rs2465630583 | 2:37,443,526 | C/G | — | uncertain significance |
| rs767993948 | 2:37,444,156 | C/T | — | uncertain significance |
| rs375084171 | 2:37,447,584 | T/C | — | uncertain significance |
| rs527993550 | 2:37,447,593 | C/T | — | uncertain significance |
| rs900553544 | 2:37,449,556 | C/T | — | likely benign |
| rs759740313 | 2:37,449,681 | A/G | — | uncertain significance |
| rs772979003 | 2:37,450,396 | G/A | — | uncertain significance |
| rs753383068 | 2:37,450,500 | A/G | — | uncertain significance |
| rs933682969 | 2:37,454,769 | T/C | — | uncertain significance |
| rs199873371 | 2:37,454,796 | C/T | — | uncertain significance |
| rs765532335 | 2:37,454,838 | C/T | — | uncertain significance |
| rs767524324 | 2:37,455,055 | T/C | — | likely benign |
| rs2465653700 | 2:37,455,099 | G/A | — | uncertain significance |
| rs779212758 | 2:37,455,234 | C/G | — | uncertain significance |
| rs2465654409 | 2:37,455,347 | A/C | — | uncertain significance |
| rs2465654485 | 2:37,455,375 | C/G | — | uncertain significance |
| rs769757578 | 2:37,455,400 | A/G | — | likely benign |
| rs1358905334 | 2:37,455,413 | C/A | — | uncertain significance |
| rs748237246 | 2:37,455,465 | C/G | — | uncertain significance |
| rs766793208 | 2:37,455,519 | C/T | — | uncertain significance |
| rs752749282 | 2:37,455,533 | G/A | — | uncertain significance |
| rs146131783 | 2:37,455,579 | G/T | — | uncertain significance |
| rs761016117 | 2:37,455,695 | T/C | — | uncertain significance |
| rs386352290 | 2:37,455,697 | A/C | — | uncertain significance |
| rs1407814182 | 2:37,455,716 | G/A | — | uncertain significance |
| rs747679706 | 2:37,455,743 | G/C | — | uncertain significance |
| rs201042392 | 2:37,455,758 | G/T | — | uncertain significance |
| rs2465655783 | 2:37,455,780 | G/C | — | uncertain significance |
| rs2465655832 | 2:37,455,800 | G/A | — | uncertain significance |
| rs753420116 | 2:37,455,894 | G/A | — | uncertain significance |
| rs770936159 | 2:37,455,903 | G/A | — | uncertain significance |
| rs141463415 | 2:37,455,908 | T/C | — | uncertain significance |
| rs773258820 | 2:37,455,918 | T/C | — | uncertain significance |
| rs774484697 | 2:37,455,924 | T/C | — | uncertain significance |
| rs775304192 | 2:37,455,940 | T/G | — | uncertain significance |
| rs1183458659 | 2:37,456,107 | C/T | — | uncertain significance |
| rs747019040 | 2:37,456,124 | C/T | — | uncertain significance |
| rs1277662638 | 2:37,456,176 | C/A | — | uncertain significance |
| rs764141578 | 2:37,458,595 | C/A | — | uncertain significance |
| rs778829475 | 2:37,458,614 | T/A | — | uncertain significance |
| rs765058535 | 2:37,458,689 | A/C | — | uncertain significance |
| rs565707666 | 2:37,458,691 | G/T | — | uncertain significance |
| rs772259023 | 2:37,458,704 | C/A | — | uncertain significance |
| rs1385913783 | 2:37,458,707 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.