PIK3R6

phosphoinositide-3-kinase regulatory subunit 6

Basic information

Region (hg38): 17:8802722-8867677

Previous symbols: [ "C17orf38" ]

Links

ENSG00000276231 ∙ NCBI:146850 ∙ OMIM:611462 ∙ HGNC:27101 ∙ Uniprot:Q5UE93 ∙ 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 PIK3R6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIK3R6 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			41			41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	0	0

Variants in PIK3R6

This is a list of pathogenic ClinVar variants found in the PIK3R6 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-8804109-G-T		not specified	Uncertain significance (Jan 10, 2022)
17-8819133-T-C		not specified	Uncertain significance (Oct 03, 2022)
17-8821914-C-A		not specified	Uncertain significance (May 30, 2024)
17-8822619-G-A		not specified	Uncertain significance (Jan 10, 2022)
17-8822621-C-T		not specified	Uncertain significance (Dec 28, 2023)
17-8823413-T-C		not specified	Uncertain significance (Jun 13, 2023)
17-8823430-C-T		not specified	Uncertain significance (Apr 22, 2024)
17-8823433-A-T		not specified	Uncertain significance (Feb 15, 2023)
17-8827213-C-T		not specified	Uncertain significance (Mar 14, 2023)
17-8827237-C-T		not specified	Uncertain significance (Oct 14, 2021)
17-8828122-A-C		not specified	Uncertain significance (Jul 17, 2023)
17-8828180-T-C		not specified	Uncertain significance (Jun 11, 2024)
17-8828579-T-C		not specified	Uncertain significance (Oct 21, 2024)
17-8828616-C-T		not specified	Uncertain significance (Oct 29, 2021)
17-8828646-G-A		not specified	Uncertain significance (Feb 15, 2023)
17-8828654-C-G		not specified	Uncertain significance (Oct 03, 2023)
17-8828657-G-A		not specified	Uncertain significance (Apr 20, 2024)
17-8828681-G-C		not specified	Uncertain significance (Jun 17, 2024)
17-8828687-C-T		not specified	Uncertain significance (May 20, 2024)
17-8828742-C-A		not specified	Uncertain significance (Jan 22, 2024)
17-8828744-A-C		not specified	Uncertain significance (May 13, 2024)
17-8828766-T-C		not specified	Uncertain significance (May 05, 2023)
17-8828778-G-A		not specified	Uncertain significance (Aug 27, 2024)
17-8828814-G-A		not specified	Uncertain significance (May 05, 2023)
17-8828849-C-T		not specified	Uncertain significance (Nov 15, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulatory subunit of the PI3K gamma complex. Acts as an adapter to drive activation of PIK3CG by beta-gamma G protein dimers. The PIK3CG:PIK3R6 heterodimer is much less sensitive to beta-gamma G protein dimers than PIK3CG:PIK3R5 and its membrane recruitment and beta-gamma G protein dimer-dependent activation requires HRAS bound to PIK3CG. Recruits of the PI3K gamma complex to a PDE3B:RAPGEF3 signaling complex involved in angiogenesis; signaling seems to involve RRAS. {ECO:0000269|PubMed:21393242}.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Platelet activation - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Leucine Stimulation on Insulin Signaling;Insulin Signalling;Microglia Pathogen Phagocytosis Pathway;PI3K-Akt Signaling Pathway;Signaling by GPCR;Signal Transduction;Metabolism of lipids;Metabolism;3-phosphoinositide biosynthesis;superpathway of inositol phosphate compounds;GPVI-mediated activation cascade;Platelet activation, signaling and aggregation;CXCR4-mediated signaling events;Hemostasis;Thromboxane A2 receptor signaling;Class IB PI3K non-lipid kinase events;Synthesis of PIPs at the plasma membrane;Class I PI3K signaling events;PI Metabolism;Phospholipid metabolism;G beta:gamma signalling through PI3Kgamma;G-protein beta:gamma signalling;GPCR downstream signalling;CD40/CD40L signaling;IL8- and CXCR1-mediated signaling events;PDGFR-beta signaling pathway;IL8- and CXCR2-mediated signaling events;EPHA forward signaling (Consensus)

Recessive Scores

• pRec: 0.0970

Haploinsufficiency Scores

• pHI: 0.0876
• hipred: N
• hipred_score: 0.170

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.177

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pik3r6
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: angiogenesis;G protein-coupled receptor signaling pathway;phosphatidylinositol 3-kinase signaling;platelet activation;regulation of natural killer cell mediated cytotoxicity;positive regulation of MAP kinase activity;regulation of phosphatidylinositol 3-kinase activity;positive regulation of T cell differentiation;positive regulation of angiogenesis;phosphatidylinositol phosphorylation
• Cellular component: cytosol;plasma membrane;phosphatidylinositol 3-kinase complex;phosphatidylinositol 3-kinase complex, class IB;membrane
• Molecular function: protein binding;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;1-phosphatidylinositol-3-kinase regulator activity