PPP1R12B

protein phosphatase 1 regulatory subunit 12B, the group of Myosin phosphatase targeting family|Protein phosphatase 1 regulatory subunits|Ankyrin repeat domain containing

Basic information

Region (hg38): 1:202348698-202592706

Previous symbols: [ "MYPT2" ]

Links

ENSG00000077157 ∙ NCBI:4660 ∙ OMIM:603768 ∙ HGNC:7619 ∙ Uniprot:O60237 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PPP1R12B gene.

• Inborn genetic diseases (27 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R12B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			24	2		26
nonsense						0
start loss						0
frameshift						0
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	28	2	0

Variants in PPP1R12B

This is a list of pathogenic ClinVar variants found in the PPP1R12B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-202349078-A-G		not specified	Uncertain significance (Oct 14, 2023)
1-202349108-C-T		not specified	Uncertain significance (Feb 16, 2023)
1-202416836-G-C		not specified	Uncertain significance (Sep 14, 2023)
1-202422630-A-C		not specified	Uncertain significance (Feb 06, 2023)
1-202422658-A-G		not specified	Uncertain significance (Dec 27, 2022)
1-202422665-A-T		not specified	Uncertain significance (Mar 21, 2023)
1-202425569-T-C		not specified	Uncertain significance (Apr 05, 2023)
1-202425602-A-G		not specified	Uncertain significance (May 17, 2023)
1-202425647-T-C		not specified	Uncertain significance (Aug 04, 2023)
1-202425698-C-T		not specified	Uncertain significance (Nov 21, 2022)
1-202427074-CAGG-C			Uncertain significance (Sep 01, 2022)
1-202427095-C-T		not specified	Uncertain significance (Jun 29, 2023)
1-202430738-G-C		not specified	Uncertain significance (Aug 09, 2021)
1-202430747-A-C		not specified	Uncertain significance (Jan 24, 2023)
1-202430776-C-A		not specified	Uncertain significance (Sep 23, 2023)
1-202430791-C-G		not specified	Uncertain significance (Jan 03, 2024)
1-202431551-G-A		not specified	Uncertain significance (Dec 22, 2023)
1-202437948-T-A		not specified	Uncertain significance (Dec 01, 2023)
1-202437956-C-G		not specified	Uncertain significance (Dec 17, 2023)
1-202437972-A-G		not specified	Uncertain significance (Dec 21, 2022)
1-202438085-A-G			Likely benign (Apr 01, 2022)
1-202440736-C-T		not specified	Likely benign (Nov 06, 2023)
1-202442488-G-A		not specified	Uncertain significance (Dec 03, 2021)
1-202442551-A-G			Likely benign (Apr 01, 2022)
1-202449009-C-A		not specified	Uncertain significance (Dec 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R12B	protein_coding	protein_coding	ENST00000608999	24	244008

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000120	1.00	125690	0	58	125748	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.972	476	540	0.882	0.0000285	6373
Missense in Polyphen		143	180.81	0.79088		1994
Synonymous	1.54	169	196	0.860	0.00000967	1932
Loss of Function	4.77	18	56.8	0.317	0.00000309	656

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000512	0.000511
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000164	0.000163
Finnish	0.000234	0.000231
European (Non-Finnish)	0.000268	0.000264
Middle Eastern	0.000164	0.000163
South Asian	0.000173	0.000163
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates myosin phosphatase activity. Augments Ca(2+) sensitivity of the contractile apparatus. {ECO:0000269|PubMed:11067852, ECO:0000269|PubMed:9570949}.
• Pathway: Focal adhesion - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Focal Adhesion;Signal Transduction;integrin signaling pathway;ccr3 signaling in eosinophils;pkc-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase;rho cell motility signaling pathway;thrombin signaling and protease-activated receptors;rac1 cell motility signaling pathway;RHO GTPases Activate ROCKs;RHO GTPases activate PAKs;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPase Effectors;Signaling by Rho GTPases;Regulation of PLK1 Activity at G2/M Transition;G2/M Transition;Mitotic G2-G2/M phases;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.896
• rvis_EVS: -0.86
• rvis_percentile_EVS: 10.95

Haploinsufficiency Scores

• pHI: 0.398
• hipred: N
• hipred_score: 0.444
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.940

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ppp1r12b

Gene ontology

• Biological process: regulation of muscle contraction;signal transduction;positive regulation of catalytic activity;negative regulation of catalytic activity
• Cellular component: nucleoplasm;cytoplasm;cytosol;cytoskeleton;Z disc;A band
• Molecular function: enzyme inhibitor activity;protein binding;enzyme activator activity;phosphatase regulator activity;protein kinase binding