PPP4R3B

protein phosphatase 4 regulatory subunit 3B, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 2:55547292-55618880

Previous symbols: [ "SMEK2" ]

Links

ENSG00000275052 ∙ NCBI:57223 ∙ OMIM:610352 ∙ HGNC:29267 ∙ Uniprot:Q5MIZ7 ∙ 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 PPP4R3B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP4R3B 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			45			45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	0	0

Variants in PPP4R3B

This is a list of pathogenic ClinVar variants found in the PPP4R3B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-55549919-C-A		not specified	Uncertain significance (Oct 06, 2022)
2-55549925-G-A		not specified	Uncertain significance (Apr 06, 2023)
2-55549971-A-C		not specified	Uncertain significance (Sep 16, 2021)
2-55549981-T-A		not specified	Uncertain significance (Dec 18, 2023)
2-55558777-T-G		not specified	Uncertain significance (Mar 14, 2023)
2-55558788-A-C		not specified	Uncertain significance (Sep 29, 2023)
2-55558822-A-T		not specified	Uncertain significance (Sep 01, 2021)
2-55558840-G-A		not specified	Uncertain significance (Sep 26, 2024)
2-55558875-C-T		not specified	Uncertain significance (Nov 07, 2022)
2-55558887-C-T		not specified	Uncertain significance (Aug 11, 2022)
2-55558895-G-C		not specified	Uncertain significance (Mar 01, 2023)
2-55558917-C-T		not specified	Uncertain significance (Nov 24, 2024)
2-55564348-G-A		not specified	Uncertain significance (Jul 27, 2024)
2-55564364-G-A		not specified	Uncertain significance (Apr 01, 2024)
2-55564382-G-T		not specified	Uncertain significance (May 12, 2024)
2-55564390-A-G		not specified	Uncertain significance (Jan 03, 2024)
2-55564391-C-A		not specified	Uncertain significance (Dec 25, 2024)
2-55564441-T-C		not specified	Uncertain significance (Nov 12, 2024)
2-55564456-G-C		not specified	Uncertain significance (Jan 17, 2024)
2-55564486-A-G		not specified	Uncertain significance (Jan 28, 2025)
2-55564905-T-C		not specified	Uncertain significance (Nov 11, 2024)
2-55565019-G-A		not specified	Uncertain significance (Jun 01, 2023)
2-55565022-G-A		not specified	Uncertain significance (Jan 22, 2024)
2-55568233-C-A		not specified	Uncertain significance (Jan 16, 2025)
2-55573703-G-A		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers.
• Pathway: Glucagon signaling pathway - Homo sapiens (human);Integrated Breast Cancer Pathway (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.73

Haploinsufficiency Scores

• pHI: 0.858
• hipred: N
• hipred_score: 0.414

Mouse Genome Informatics

• Gene name: Ppp4r3b

Gene ontology

• Biological process: protein dephosphorylation;regulation of lipid metabolic process;positive regulation of gluconeogenesis
• Cellular component: nucleoplasm;cytoplasm;centrosome;nuclear speck;protein phosphatase 4 complex