PPP1R12A

Chr 12q21.2-q21.31

protein phosphatase 1 regulatory subunit 12A

Aliases:: MBS, M130
MANE:: ENST00000450142.7

OMIM: 602021 ↗NCBI: 4659 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PPP1R12A · O14974

v62025-08-01

Predicted Aligned Error matrix for PPP1R12A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.4/ 100

Low

1,030 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)12%
Low(50–70)6%
Very low(< 50)53%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Differences in sex development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

genitourinary and/or brain malformation syndrome
0.78
neurodegenerative disease
0.57
hereditary disease
0.42
holoprosencephaly
0.37
Genetic 46,XY disorder of sex development
0.37
Intellectual disability
0.37
Alzheimer disease
0.35
Parkinson disease
0.34
multiple sclerosis
0.34
lysosomal storage disease
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein phosphatase 1 regulatory subunit 12A

Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity