NAB2
NGFI-A binding protein 2
Summary
This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2548004946 | 12:57,484,910 | C/G | — | uncertain significance |
| rs778572735 | 12:57,484,919 | G/A | — | uncertain significance |
| rs151285788 | 12:57,485,028 | C/T | — | likely benign |
| rs941575820 | 12:57,485,137 | G/C | — | uncertain significance |
| rs372063074 | 12:57,485,260 | G/A | — | uncertain significance |
| rs1346985062 | 12:57,485,269 | G/C | — | uncertain significance |
| rs2548005136 | 12:57,485,285 | G/A | — | uncertain significance |
| rs2548005145 | 12:57,485,294 | G/C | — | uncertain significance |
| rs148039313 | 12:57,485,414 | C/T | — | uncertain significance |
| rs933012739 | 12:57,485,444 | C/T | — | uncertain significance |
| rs2233271 | 12:57,485,455 | C/T | — | benign |
| rs748674945 | 12:57,485,501 | C/G | — | uncertain significance |
| rs761753728 | 12:57,485,552 | G/A | — | uncertain significance |
| rs200672078 | 12:57,485,584 | C/T | — | uncertain significance |
| rs369196466 | 12:57,486,361 | C/A | — | uncertain significance |
| rs749512719 | 12:57,486,738 | A/G | — | uncertain significance |
| rs147286767 | 12:57,486,901 | A/G | — | uncertain significance |
| rs774115078 | 12:57,486,970 | A/C | — | uncertain significance |
| rs2548007969 | 12:57,487,297 | G/A | — | uncertain significance |
| rs1194489158 | 12:57,487,307 | G/A | — | uncertain significance |
| rs375991040 | 12:57,487,364 | C/T | — | uncertain significance |
| rs3024979 | 12:57,488,293 | A/T | regulatory region variant | — |
| rs757950689 | 12:57,488,472 | G/A | — | uncertain significance |
| rs4559 | 12:57,489,648 | C/T | regulatory region variant | — |
| rs1059513 | 12:57,489,709 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.