MBNL2
muscleblind like splicing regulator 2
Summary
This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4771268 | 13:97,865,021 | T/A | — | — |
| rs75122859 | 13:97,901,005 | A/T | intron variant | — |
| rs781670889 | 13:97,928,608 | C/G | — | uncertain significance |
| rs2504879971 | 13:97,928,656 | C/T | — | uncertain significance |
| rs1973419 | 13:97,976,147 | T/A | — | — |
| rs764925596 | 13:97,986,614 | T/G | — | uncertain significance |
| rs55684003 | 13:97,988,689 | A/G | intron variant | — |
| rs2502612782 | 13:97,995,451 | T/C | — | uncertain significance |
| rs2502716004 | 13:97,999,149 | G/A | — | likely benign |
| rs1027085311 | 13:97,999,307 | G/T | — | uncertain significance |
| rs7318250 | 13:98,002,508 | G/A | intron variant | — |
| rs537929130 | 13:98,009,803 | G/A | — | uncertain significance |
| rs2502976625 | 13:98,009,851 | G/A | — | likely benign |
| rs9556711 | 13:98,016,416 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.