ZBTB7B
zinc finger and BTB domain containing 7B
Summary
This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77885114 | 1:154,974,619 | G/A | regulatory region variant | — |
| rs191982780 | 1:154,976,374 | G/A | regulatory region variant | — |
| rs113405739 | 1:154,976,518 | A/G | regulatory region variant | — |
| rs181807963 | 1:154,976,671 | G/T | regulatory region variant | — |
| rs547863834 | 1:154,983,847 | C/T | — | — |
| rs946862051 | 1:154,987,499 | G/T | — | likely benign |
| rs11264295 | 1:154,987,526 | C/T | — | benign |
| rs141845046 | 1:154,987,704 | C/T | missense variant | — |
| rs138516998 | 1:154,987,706 | G/A | — | likely benign |
| rs201766394 | 1:154,987,769 | C/T | — | likely benign |
| rs142382342 | 1:154,987,886 | G/A | — | likely benign |
| rs71628639 | 1:154,988,255 | A/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.