Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pik3c2aprovided by MGI
Official Full Name: phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alphaprovided by MGI
Primary source: MGI:MGI:1203729
See related: Ensembl:ENSMUSG00000030660 AllianceGenome:MGI:1203729
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cpk-m; PI3KC2
Summary: Enables 1-phosphatidylinositol-3-kinase activity. Acts upstream of or within several processes, including autophagosome organization; negative regulation of zinc ion transmembrane transport; and phosphatidylinositol-3-phosphate biosynthetic process. Predicted to be located in several cellular components, including clathrin-coated vesicle; nucleoplasm; and trans-Golgi network. Predicted to be active in cytoplasm and plasma membrane. Is expressed in brain. Orthologous to human PIK3C2A (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 5.5), limb E14.5 (RPKM 4.0) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F1; 7 61.62 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (115936500..116042693, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (116337265..116443465, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PI3KCIIalpha-Dependent Autophagy Program Protects From Endothelial Dysfunction and Atherosclerosis in Response to Low Shear Stress in Mice.
Title: PI3KCIIα-Dependent Autophagy Program Protects From Endothelial Dysfunction and Atherosclerosis in Response to Low Shear Stress in Mice.
Discoidin domain receptor 2 signaling through PIK3C2alpha in fibroblasts promotes lung fibrosis.
Title: Discoidin domain receptor 2 signaling through PIK3C2α in fibroblasts promotes lung fibrosis.
PI3KC2alpha inhibition is antithrombotic in blood from hypercholesterolemic mice.
Title: PI3KC2α inhibition is antithrombotic in blood from hypercholesterolemic mice.
PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.
Title: PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.
Class II phosphatidylinositol 3-kinase alpha and beta isoforms are required for vascular smooth muscle Rho activation, contraction and blood pressure regulation in mice.
Title: Class II phosphatidylinositol 3-kinase α and β isoforms are required for vascular smooth muscle Rho activation, contraction and blood pressure regulation in mice.
Cbl-PI3K interaction regulates Cathepsin K secretion in osteoclasts.
Title: Cbl-PI3K interaction regulates Cathepsin K secretion in osteoclasts.
Pik3c2a regulates shear stress-associated autophagy and cell size regulation.PI3KC2alpha, required for ciliogenesis and primary cilium functions, promotes the synthesis of a local pool of phosphatidylinositol-3-phosphate upon shear stress.
Title: PI3KC2α-dependent and VPS34-independent generation of PI3P controls primary cilium-mediated autophagy in response to shear stress.
Both PI3K-C2alpha and PI3K-C2beta are required for normal uterine smooth muscle contraction and parturition mainly through their involvement in Rhoa activation.
Title: Class II PI3Ks α and β Are Required for Rho-Dependent Uterine Smooth Muscle Contraction and Parturition in Mice.
Studies indicate that the structural changes in PI3KC2alpha-deficient platelets are limited to the membrane, occur without major changes in lipid composition, and selectively impair cell function during thrombus formation. Functionally, PI3KC2alpha-deficient platelets exhibit impaired thrombosis specifically under conditions involving membrane tethering.
Title: The PI 3-kinase PI3KC2α regulates mouse platelet membrane structure and function independently of membrane lipid composition.
This study adds to this divergence by indicating a nonredundant role for PI3KC2alpha, with no role for PI3KC2beta, in regulating platelet OCS structure and overall platelet-dependent thrombus stability.
Title: Combined deficiency of PI3KC2α and PI3KC2β reveals a nonredundant role for PI3KC2α in regulating mouse platelet structure and thrombus stability.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (3)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

31.MMHAP26FRC10.seq (e-PCR)
- UniSTS:123934

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

U52193 (e-PCR)
- UniSTS:179631

NoName (e-PCR)
- UniSTS:235758

NoName (e-PCR)
- UniSTS:235759

D5Mit392.1 (e-PCR), detects polymorphism
- UniSTS:130544

RH118310 (e-PCR)
- UniSTS:124663

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol-3-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol-3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables 1-phosphatidylinositol-3-kinase activity	ISO Inferred from Sequence Orthology more info
enables 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ISO Inferred from Sequence Orthology more info
enables 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol-4-phosphate 3-kinase activity	ISO Inferred from Sequence Orthology more info
enables 1-phosphatidylinositol-4-phosphate 3-kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables clathrin binding	ISO Inferred from Sequence Orthology more info
enables clathrin binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagosome organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to starvation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in endocytosis	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within macroautophagy	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of zinc ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol-3-phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phosphatidylinositol-3-phosphate biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in phosphatidylinositol-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration involved in sprouting angiogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha

Names: PI3K-C2-alpha; p170; phosphatidylinositol 3-kinase, C2 domain containing, alpha polypeptide; phosphoinositide 3-kinase-C2-alpha; ptdIns-3-kinase C2 subunit alpha

NP_035213.2

EC 2.7.1.137

EC 2.7.1.153

EC 2.7.1.154

XP_006507503.1

EC 2.7.1.137

EC 2.7.1.153

EC 2.7.1.154

XP_006507504.1

EC 2.7.1.137

EC 2.7.1.153

EC 2.7.1.154

XP_030098074.1

EC 2.7.1.137

EC 2.7.1.153

EC 2.7.1.154

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011083.2 → NP_035213.2 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha

See identical proteins and their annotated locations for NP_035213.2

Status: VALIDATED

Source sequence(s)

AC104918, AK136732, BC096553, BY014484, BY034035, BY726923, U55772

Consensus CDS

CCDS52371.1

UniProtKB/Swiss-Prot

Q61182, Q61194

UniProtKB/TrEMBL

F8VPL2

Related

ENSMUSP00000126092.2, ENSMUST00000170430.3

Conserved Domains (7) summary

cd07289
Location:1426 → 1534

PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases

cd04012
Location:677 → 849

C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd08381
Location:1560 → 1681

C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd00869
Location:869 → 1038

PI3Ka_II; Phosphoinositide 3-kinase (PI3K) class II, accessory domain (PIK domain); PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, class II PI3-kinases ...

cd05176
Location:1043 → 1395

PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha

pfam00794
Location:421 → 513

PI3K_rbd; PI3-kinase family, ras-binding domain

pfam04621
Location:40 → 210

ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

115936500..116042693 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507440.5 → XP_006507503.1 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X1

See identical proteins and their annotated locations for XP_006507503.1

UniProtKB/Swiss-Prot

Q61182, Q61194

UniProtKB/TrEMBL

F8VPL2

Related

ENSMUSP00000146181.2, ENSMUST00000206219.2

Conserved Domains (7) summary

cd07289
Location:1426 → 1534

PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases

cd04012
Location:677 → 849

C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd08381
Location:1560 → 1681

C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd00869
Location:869 → 1038

PI3Ka_II; Phosphoinositide 3-kinase (PI3K) class II, accessory domain (PIK domain); PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, class II PI3-kinases ...

cd05176
Location:1043 → 1395

PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha

pfam00794
Location:421 → 513

PI3K_rbd; PI3-kinase family, ras-binding domain

pfam04621
Location:40 → 210

ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
XM_006507441.5 → XP_006507504.1 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X2

See identical proteins and their annotated locations for XP_006507504.1

Conserved Domains (6) summary

cd07289
Location:1009 → 1117

PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases

cd04012
Location:260 → 432

C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd08381
Location:1143 → 1264

C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd00869
Location:452 → 621

PI3Ka_II; Phosphoinositide 3-kinase (PI3K) class II, accessory domain (PIK domain); PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, class II PI3-kinases ...

cd05176
Location:626 → 978

PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha

pfam00794
Location:4 → 96

PI3K_rbd; PI3-kinase family, ras-binding domain
XM_030242214.2 → XP_030098074.1 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X2

Conserved Domains (6) summary

cd07289
Location:1009 → 1117

PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases

cd04012
Location:260 → 432

C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd08381
Location:1143 → 1264

C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd00869
Location:452 → 621

PI3Ka_II; Phosphoinositide 3-kinase (PI3K) class II, accessory domain (PIK domain); PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, class II PI3-kinases ...

cd05176
Location:626 → 978

PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha

pfam00794
Location:4 → 96

PI3K_rbd; PI3-kinase family, ras-binding domain