SAFB
scaffold attachment factor B
Summary
This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1246757204 | 19:5,623,227 | C/T | — | uncertain significance |
| rs145144595 | 19:5,623,299 | C/G | — | uncertain significance |
| rs61760907 | 19:5,641,769 | C/G | — | uncertain significance |
| rs2512276226 | 19:5,641,830 | A/G | — | uncertain significance |
| rs182749782 | 19:5,641,862 | G/C | — | uncertain significance |
| rs754338398 | 19:5,641,923 | T/G | — | uncertain significance |
| rs1599341761 | 19:5,641,934 | C/G | — | uncertain significance |
| rs200977093 | 19:5,645,377 | A/T | — | uncertain significance |
| rs75289952 | 19:5,649,943 | C/T | — | benign |
| rs2053926733 | 19:5,651,018 | G/A | — | uncertain significance |
| rs1327616151 | 19:5,653,174 | T/C | — | uncertain significance |
| rs371170328 | 19:5,654,076 | A/G | — | likely benign |
| rs201328292 | 19:5,654,110 | A/C | — | uncertain significance |
| rs773807779 | 19:5,654,159 | C/A | — | uncertain significance |
| rs2054002986 | 19:5,654,164 | A/G | — | uncertain significance |
| rs2512298783 | 19:5,654,403 | T/C | — | uncertain significance |
| rs2512298850 | 19:5,654,446 | A/C | — | uncertain significance |
| rs867493353 | 19:5,654,448 | C/G | — | uncertain significance |
| rs143591207 | 19:5,657,303 | G/A | — | uncertain significance |
| rs763768197 | 19:5,657,304 | T/C | — | uncertain significance |
| rs2512303920 | 19:5,657,315 | A/G | — | uncertain significance |
| rs1369145519 | 19:5,661,633 | G/A | — | uncertain significance |
| rs200332592 | 19:5,661,656 | A/C | — | uncertain significance |
| rs758546855 | 19:5,661,786 | G/A | — | uncertain significance |
| rs1176229417 | 19:5,661,791 | G/A | — | uncertain significance |
| rs1538011 | 19:5,664,036 | A/C | — | likely benign |
| rs1326864053 | 19:5,664,038 | A/T | — | uncertain significance |
| rs754569943 | 19:5,664,121 | G/A | — | uncertain significance |
| rs2054277744 | 19:5,664,146 | G/A | — | uncertain significance |
| rs1364617860 | 19:5,664,161 | C/T | — | uncertain significance |
| rs199578025 | 19:5,664,163 | G/A | — | uncertain significance |
| rs192905002 | 19:5,666,687 | C/T | intron variant | — |
| rs200429675 | 19:5,667,116 | G/C | — | uncertain significance |
| rs201604799 | 19:5,667,118 | G/A | — | uncertain significance |
| rs373606363 | 19:5,667,157 | G/C | — | uncertain significance |
| rs759973784 | 19:5,667,171 | C/T | — | uncertain significance |
| rs370175216 | 19:5,667,422 | G/A | — | uncertain significance |
| rs932373695 | 19:5,667,882 | G/A | — | uncertain significance |
| rs76836312 | 19:5,668,176 | C/T | — | likely benign |
| rs2054380354 | 19:5,668,187 | C/T | — | uncertain significance |
| rs371779844 | 19:5,668,211 | A/C | — | uncertain significance |
| rs370240228 | 19:5,668,259 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.