PPP1R14B

protein-coding

protein phosphatase 1 regulatory inhibitor subunit 14B, the group of Protein phosphatase 1 regulatory subunits

Gene summary

Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in innate immune response. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

PLCB3N

MANE transcript

NM_138689.3

Inheritance

—

ClinVar variants

U:22

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr11:64,244,479-64,246,943

External References & Databases

Ensembl (ENSG00000173457)

Transcript & Mutation Effects

hg38 • Region Span ~2.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PPP1R14B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 18

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138689.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			18 clinvar			18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	22	0	0	22

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138689.3	RefSeq	NP_619634.1	4	MANE Select
ENST00000309318.8	Ensembl	ENSP00000310117.3	4	MANE Select
ENST00000392210.6	Ensembl	ENSP00000441067.1	3	Standard
ENST00000392210.7	Ensembl	ENSP00000441067.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

EGFR1
Integrin-linked kinase signaling

Biological Process

negative regulation of phosphoprotein phosphatase activity
regulation of phosphorylation
innate immune response

Molecular Function

protein serine/threonine phosphatase inhibitor activity

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000309318
Coding exons: 4
Length: 2458
Individuals with no LoFs: 125469
Homozygous LoFs: 0
Heterozygous LoFs: 54
Defined: 125523
p: 0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.717	58	75.5	0.768	0.00000370	930
Missense (PolyPhen)		9	24.125	0.37305		341
Synonymous	-0.147	34	32.9	1.03	0.00000165	307
Loss of Function	0.652	4	5.68	0.705	2.41e-7	75

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000062	rare
Latino/Admixed American	0.00055	0.00041	rare
Ashkenazi Jewish	0.00040	0.00030	rare
East Asian	0.00018	0.00016	rare
Finnish	0.00030	0.00028	rare
European (Non-Finnish)	0.00017	0.00016	rare
South Asian	0.00030	0.00026	rare
Other	0.00020	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Inhibitor of PPP1CA. Has over 50-fold higher inhibitory activity when phosphorylated (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.221

Intolerance Scores

LoFtool: 0.370
RVIS EVS: 0.06
RVIS percentile EVS: 58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.341

Gene Damage Prediction

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