ZBTB42
zinc finger and BTB domain containing 42
Summary
The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2498784 | 14:105,264,963 | A/G | upstream gene variant | — |
| rs12878684 | 14:105,267,579 | G/A | — | benign |
| rs369444523 | 14:105,267,614 | C/T | — | uncertain significance |
| rs1894037533 | 14:105,267,661 | G/C | — | uncertain significance |
| rs753532152 | 14:105,267,690 | C/G | — | uncertain significance |
| rs1282030192 | 14:105,267,699 | C/G | — | uncertain significance |
| rs570148369 | 14:105,267,715 | C/A | — | uncertain significance |
| rs1311516420 | 14:105,267,721 | A/C | — | uncertain significance |
| rs1595272193 | 14:105,267,738 | C/T | — | likely benign |
| rs2542260823 | 14:105,267,793 | C/T | — | uncertain significance |
| rs1894041184 | 14:105,267,844 | T/C | — | uncertain significance |
| rs1338552080 | 14:105,267,867 | C/A | — | likely benign |
| rs200434987 | 14:105,267,925 | G/A | — | uncertain significance |
| rs34284721 | 14:105,267,934 | A/G | — | benign |
| rs1231055922 | 14:105,268,006 | A/C | — | uncertain significance |
| rs10141867 | 14:105,268,104 | G/A | synonymous variant | benign |
| rs2542261864 | 14:105,268,118 | G/A | — | uncertain significance |
| rs372287529 | 14:105,268,133 | G/A | — | uncertain significance |
| rs749586716 | 14:105,268,145 | C/T | — | uncertain significance |
| rs1443738054 | 14:105,268,172 | G/T | — | uncertain significance |
| rs4983387 | 14:105,268,228 | A/G | — | benign |
| rs1257930259 | 14:105,268,241 | G/A | — | uncertain significance |
| rs1173702414 | 14:105,268,271 | C/T | — | likely benign |
| rs752247402 | 14:105,268,360 | C/T | — | uncertain significance |
| rs1169677048 | 14:105,268,382 | G/A | — | uncertain significance |
| rs145420561 | 14:105,268,413 | C/A | — | likely benign |
| rs535992574 | 14:105,268,500 | C/T | — | likely benign |
| rs761312286 | 14:105,268,510 | C/T | — | uncertain significance |
| rs73350336 | 14:105,268,511 | G/A | — | benign |
| rs534701103 | 14:105,268,538 | C/T | — | uncertain significance |
| rs142321750 | 14:105,268,544 | C/T | — | uncertain significance |
| rs1368607213 | 14:105,268,565 | C/T | — | uncertain significance |
| rs2542262761 | 14:105,268,586 | G/A | — | uncertain significance |
| rs375499035 | 14:105,268,595 | G/T | — | uncertain significance |
| rs577534064 | 14:105,268,622 | C/G | — | uncertain significance |
| rs2542262849 | 14:105,268,627 | G/C | — | uncertain significance |
| rs1006754789 | 14:105,268,649 | A/T | — | uncertain significance |
| rs61734768 | 14:105,268,701 | G/A | — | benign |
| rs774942685 | 14:105,268,712 | G/A | — | uncertain significance |
| rs730882163 | 14:105,268,724 | G/A | missense variant | uncertain significance |
| rs145613562 | 14:105,268,740 | C/T | — | benign |
| rs114717666 | 14:105,268,758 | C/T | — | benign |
| rs752851039 | 14:105,268,783 | G/A | — | uncertain significance |
| rs3803300 | 14:105,269,779 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.