PPP1R12A Chromosome 12
Protein phosphatase 1 regulatory subunit 12A
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What This Gene Does
Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family"
Locus Type
gene with protein product
Location
12q21.2-q21.31
Ensembl
ENSG00000058272
Associated Conditions (4)
PPP1R12A-related disorder
Genitourinary and/or brain malformation syndrome
Inborn genetic diseases
Hepatocellular carcinoma
Key Variants
RS1565731811
Conflicting classifications of pathogenicity
PPP1R12A-related disorder, Genitourinary and/or brain malformation syndrome, PPP1R12A-related disorder
Health Risk
RS201175104
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201853273
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201858651
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372736855
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61754237
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61756421
Conflicting classifications of pathogenicity
Hepatocellular carcinoma, Hepatocellular carcinoma
Health Risk
RS746022915
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752892850
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757413852
Conflicting classifications of pathogenicity
Health Risk
RS764281068
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS768174999
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1565731811 | Health Risk | Conflicting classifications of pathogenicity | PPP1R12A-related disorder, Genitourinary and/or brain malformation syndrome, PPP1R12A-related disorder |
| RS201175104 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201853273 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201858651 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372736855 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61754237 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61756421 | Health Risk | Conflicting classifications of pathogenicity | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS746022915 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752892850 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757413852 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764281068 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768174999 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768656544 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS931606172 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1034350880 | Health Risk | Likely pathogenic | — |
| RS1871420455 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS1871420871 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2136954627 | Health Risk | Likely pathogenic | — |
| RS2136997832 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2547884822 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2547952059 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2547952219 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2548018046 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2548108996 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS761795743 | Health Risk | Likely pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS1356631664 | Health Risk | Pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS1592629980 | Health Risk | Pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS1592661703 | Health Risk | Pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS1879250715 | Health Risk | Pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2137028448 | Health Risk | Pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2547891931 | Health Risk | Pathogenic | PPP1R12A-related disorder, PPP1R12A-related disorder |
| RS2547891962 | Health Risk | Pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |
| RS2547893717 | Health Risk | Pathogenic | PPP1R12A-related disorder, Genitourinary and/or brain malformation syndrome, PPP1R12A-related disorder |
| RS868109198 | Health Risk | Pathogenic | Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome |