PPP1R12B
protein phosphatase 1 regulatory subunit 12B
Summary
Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768580152 | 1:202,318,206 | A/G | — | uncertain significance |
| rs754347308 | 1:202,318,236 | C/T | — | uncertain significance |
| rs12023683 | 1:202,348,024 | C/T | intron variant | — |
| rs2696958 | 1:202,358,947 | C/T | intron variant | — |
| rs139402597 | 1:202,385,964 | G/C | — | uncertain significance |
| rs12734001 | 1:202,390,914 | C/T | — | — |
| rs12739262 | 1:202,391,743 | C/T | splice region variant | — |
| rs1397838829 | 1:202,391,758 | A/C | — | uncertain significance |
| rs141572166 | 1:202,391,786 | A/G | — | uncertain significance |
| rs777673487 | 1:202,391,793 | A/T | — | uncertain significance |
| rs772665494 | 1:202,394,697 | T/C | — | uncertain significance |
| rs143342915 | 1:202,394,730 | A/G | — | uncertain significance |
| rs1669403325 | 1:202,394,775 | T/C | — | uncertain significance |
| rs1176384653 | 1:202,394,826 | C/T | — | uncertain significance |
| rs1444597544 | 1:202,396,223 | C/T | — | uncertain significance |
| rs772754423 | 1:202,399,866 | G/C | — | uncertain significance |
| rs2527863627 | 1:202,399,875 | A/C | — | uncertain significance |
| rs202207519 | 1:202,399,904 | C/A | — | uncertain significance |
| rs369275978 | 1:202,399,919 | C/G | — | uncertain significance |
| rs546773418 | 1:202,400,679 | G/A | — | uncertain significance |
| rs150595874 | 1:202,407,076 | T/A | — | uncertain significance |
| rs774172906 | 1:202,407,084 | C/G | — | uncertain significance |
| rs370884876 | 1:202,407,100 | A/G | — | uncertain significance |
| rs376793967 | 1:202,407,213 | A/G | — | likely benign |
| rs772637734 | 1:202,409,864 | C/T | — | likely benign |
| rs1355059975 | 1:202,411,616 | G/A | — | uncertain significance |
| rs142827848 | 1:202,411,679 | A/G | — | likely benign |
| rs190468921 | 1:202,417,053 | C/T | intron variant | — |
| rs752551932 | 1:202,418,137 | C/A | — | uncertain significance |
| rs369793804 | 1:202,418,206 | G/A | — | uncertain significance |
| rs137969929 | 1:202,457,680 | C/T | — | uncertain significance |
| rs138144893 | 1:202,462,287 | C/T | — | uncertain significance |
| rs764184578 | 1:202,464,449 | C/T | — | uncertain significance |
| rs143792888 | 1:202,464,470 | C/T | — | uncertain significance |
| rs984987398 | 1:202,464,704 | A/T | — | uncertain significance |
| rs763171354 | 1:202,464,776 | G/A | — | uncertain significance |
| rs757769728 | 1:202,464,790 | A/G | — | uncertain significance |
| rs2148861501 | 1:202,465,951 | G/T | — | uncertain significance |
| rs12734338 | 1:202,469,723 | T/C | — | — |
| rs12743401 | 1:202,476,648 | T/C | — | — |
| rs377170564 | 1:202,531,919 | G/C | — | uncertain significance |
| rs769365526 | 1:202,531,973 | C/T | — | uncertain significance |
| rs146166453 | 1:202,531,985 | C/T | — | uncertain significance |
| rs200358617 | 1:202,531,986 | G/A | — | uncertain significance |
| rs750534932 | 1:202,531,994 | C/T | — | uncertain significance |
| rs753256240 | 1:202,532,015 | C/T | — | uncertain significance |
| rs775180242 | 1:202,533,630 | G/T | — | uncertain significance |
| rs1687869623 | 1:202,533,652 | T/C | — | uncertain significance |
| rs745900024 | 1:202,536,931 | G/A | — | uncertain significance |
| rs775137843 | 1:202,538,294 | G/A | — | uncertain significance |
| rs185328616 | 1:202,561,586 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.