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Aliases for PIK3C3 Gene

Aliases for PIK3C3 Gene

  • Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3 2 3 5
  • Phosphatidylinositol 3-Kinase P100 Subunit 3 4
  • Phosphoinositide-3-Kinase, Class 3 2 3
  • PtdIns-3-Kinase Type 3 3 4
  • PI3-Kinase Type 3 3 4
  • EC 2.7.1.137 4 56
  • PI3K Type 3 3 4
  • HVps34 3 4
  • Vps34 3 4
  • Phosphatidylinositol 3-Kinase, Catalytic Subunit Type 3 2
  • Phosphoinositide-3-Kinase Class 3 4
  • EC 2.7.1 56

External Ids for PIK3C3 Gene

Previous GeneCards Identifiers for PIK3C3 Gene

  • GC18P039741
  • GC18P039321
  • GC18P039423
  • GC18P037787
  • GC18P037789
  • GC18P039535
  • GC18P036394

Summaries for PIK3C3 Gene

GeneCards Summary for PIK3C3 Gene

PIK3C3 (Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3) is a Protein Coding gene. Diseases associated with PIK3C3 include Amyotrophic Lateral Sclerosis 1. Among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Delta508-CFTR traffic / Sorting endosome formation in CF. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding. An important paralog of this gene is PIK3CB.

UniProtKB/Swiss-Prot for PIK3C3 Gene

  • Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for transport from early to late endosomes (By similarity).

Tocris Summary for PIK3C3 Gene

  • PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.

Gene Wiki entry for PIK3C3 Gene

Additional gene information for PIK3C3 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3C3 Gene

Genomics for PIK3C3 Gene

GeneHancer (GH) Regulatory Elements for PIK3C3 Gene

Promoters and enhancers for PIK3C3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I041954 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 558 +0.5 468 2.3 PKNOX1 ATF1 FOXA2 SMAD1 ARID4B SIN3A ZNF2 YY1 ETS1 E2F8 PIK3C3 GC18M041981
GH18I042113 Enhancer 1 Ensembl ENCODE 10.5 +158.9 158940 1.9 FOXA2 IRF4 RAD21 RARA YY1 ZNF335 ZNF143 RCOR1 IKZF2 SMARCA5 PIK3C3 GC18P042131 ENSG00000267088
GH18I041991 Enhancer 0.8 ENCODE 12.1 +37.3 37276 1.2 HDAC1 PKNOX1 SMAD1 BMI1 BATF IRF4 ATF7 ETV6 IKZF2 RUNX3 PIK3C3 GC18P041990 GC18P042007
GH18I041937 Enhancer 0.9 FANTOM5 Ensembl ENCODE 6.5 -15.6 -15588 4.2 MEIS2 JUND POLR2A FOS REST PIK3C3 GC18M041930
GH18I042047 Enhancer 0.9 Ensembl ENCODE 5.7 +92.8 92847 1.8 ELF3 FOXA2 ZNF792 SAP130 CEBPG FOS FOSL2 HOMEZ MAFK GATAD2A PIK3C3 ENSG00000276174 GC18P042007
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIK3C3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIK3C3 gene promoter:

Genomic Locations for PIK3C3 Gene

Genomic Locations for PIK3C3 Gene
chr18:41,955,199-42,087,830
(GRCh38/hg38)
Size:
132,632 bases
Orientation:
Plus strand
chr18:39,535,171-39,667,794
(GRCh37/hg19)

Genomic View for PIK3C3 Gene

Genes around PIK3C3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3C3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3C3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3C3 Gene

Proteins for PIK3C3 Gene

  • Protein details for PIK3C3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEB9-PK3C3_HUMAN
    Recommended name:
    Phosphatidylinositol 3-kinase catalytic subunit type 3
    Protein Accession:
    Q8NEB9
    Secondary Accessions:
    • Q15134

    Protein attributes for PIK3C3 Gene

    Size:
    887 amino acids
    Molecular mass:
    101549 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Component of the PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex the core of which is composed of the catalytic subunit PIK3C3, the regulatory subunit PIK3R4 and BECN1 associating with additional regulatory/auxilliary subunits to form alternative complex forms. Alternative complex forms containing a forth regulatory subunit in a mutually exclusive manner are: the PI3K complex I (PI3KC3-C1) containing ATG14, and the PI3K complex II (PI3KC3-C2) containing UVRAG. PI3KC3-C1 displays a V-shaped architecture with PIK3R4 serving as a bridge between PIK3C3 and the ATG14:BECN1 subcomplex. Both, PI3KC3-C1 and PI3KC3-C2, can associate with further regulatory subunits such as RUBCN, SH3GLB1/Bif-1 and AMBRA1 (PubMed:7628435, PubMed:19050071, PubMed:20643123, PubMed:19270696, PubMed:23878393, PubMed:25490155). PI3KC3-C1 probably associates with PIK3CB (By similarity). Interacts with RAB7A in the presence of PIK3R4 (PubMed:14617358). Interacts with AMBRA1 (By similarity). Interacts with BECN1P1/BECN2 (PubMed:23954414). Interacts with SLAMF1(PubMed:22493499). May be a component of a complex composed of RAB5A (in GDP-bound form), DYN2 and PIK3C3 (By similarity). Interacts with NCKAP1L (PubMed:16417406).

    Three dimensional structures from OCA and Proteopedia for PIK3C3 Gene

neXtProt entry for PIK3C3 Gene

Selected DME Specific Peptides for PIK3C3 Gene

Q8NEB9:
  • SNLILNLF
  • LTPYKVLAT
  • FKTEDGGKYPVIFK
  • LEQDLCTFLISRACKNSTLANYLYWYVIVECE
  • FSTRWNWNEWLKLPVKYPDLPRNAQVALTIWDVYGPG
  • KEMVEGMGG
  • RDPKTHEMYLNVMRRFSQALLKGDKSVRVMRSLLA
  • ALFAAVVEQIHKFAQYWR
  • YSCDLDI
  • LFHIDFG
  • IPLPLEPQVKIRGIIPE
  • TEGSIQNFFRKY
  • QADDEDLLMYLLQLVQALKYENF
  • KEYGIVYYEKDGDES
  • SCAGYCV
  • ATLFKSALMPA
  • QEAKQALEL
  • FRYYLTN
  • VDWLDRLTF
  • GKLFHIDFGYILG
  • QQTFVDRLVHLMKAVQRESGNRKKKNERLQALLGDNEKM
  • TVSLFGKYGMFRQGMHDLKVWPN
  • GDDLRQDQL
  • VPDPQMSMENLVE
  • VITYILG

Post-translational modifications for PIK3C3 Gene

No Post-translational modifications

Domains & Families for PIK3C3 Gene

Gene Families for PIK3C3 Gene

Suggested Antigen Peptide Sequences for PIK3C3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NEB9

UniProtKB/Swiss-Prot:

PK3C3_HUMAN :
  • Belongs to the PI3/PI4-kinase family.
Family:
  • Belongs to the PI3/PI4-kinase family.
genes like me logo Genes that share domains with PIK3C3: view

Function for PIK3C3 Gene

Molecular function for PIK3C3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 3-phosphate.
UniProtKB/Swiss-Prot Function:
Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for transport from early to late endosomes (By similarity).

Enzyme Numbers (IUBMB) for PIK3C3 Gene

Phenotypes From GWAS Catalog for PIK3C3 Gene

Gene Ontology (GO) - Molecular Function for PIK3C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0005515 protein binding IPI 7504174
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IDA,IEA 25327288
genes like me logo Genes that share ontologies with PIK3C3: view
genes like me logo Genes that share phenotypes with PIK3C3: view

Animal Models for PIK3C3 Gene

MGI Knock Outs for PIK3C3:

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIK3C3 Gene

Localization for PIK3C3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3C3 Gene

Midbody. Late endosome. Cytoplasmic vesicle, autophagosome. Note=As component of the PI3K complex I localized to pre-autophagosome structures. As component of the PI3K complex II localized predominantly to endosomes (Probable). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme (By similarity). {ECO:0000250 UniProtKB:Q6PF93, ECO:0000305 PubMed:14617358}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIK3C3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
lysosome 5
endosome 5
peroxisome 3
plasma membrane 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIK3C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 phagophore assembly site IBA --
GO:0005622 intracellular IEA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA,IDA 14617358
GO:0005776 autophagosome IEA --
genes like me logo Genes that share ontologies with PIK3C3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIK3C3 Gene

Pathways & Interactions for PIK3C3 Gene

genes like me logo Genes that share pathways with PIK3C3: view

SIGNOR curated interactions for PIK3C3 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIK3C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA --
GO:0000910 cytokinesis IMP 20208530
GO:0006468 protein phosphorylation IBA,IEA --
GO:0006497 protein lipidation IMP 25327288
GO:0006661 phosphatidylinositol biosynthetic process TAS --
genes like me logo Genes that share ontologies with PIK3C3: view

Drugs & Compounds for PIK3C3 Gene

(26) Drugs for PIK3C3 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
3-Methyladenine Experimental Pharma Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy 0
N-(5-(4-CHLORO-3-(2-HYDROXY-ETHYLSULFAMOYL)- PHENYLTHIAZOLE-2-YL)-ACETAMIDE Experimental Pharma Target 0
SF1126 Investigational Pharma inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist 0

(388) Additional Compounds for PIK3C3 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1D-Myo-inositol 1,3-bisphosphate
  • D-Myo-Inositol 1,3-bisphosphate
  • Inositol 1,3-bisphosphate
  • Inositol 1,3-diphosphate
  • Inositol(1,3)bisphosphate
  • Myo-inositol 1,3-bis(dihydrogen phosphate)
103597-56-4
1-Phosphatidyl-1D-myo-inositol 3-phosphate
  • 1-Phosphatidyl-1D-myo-inositol 3-phosphate
  • Phosphatidylinositol 3-phosphate
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate

(5) Tocris Compounds for PIK3C3 Gene

Compound Action Cas Number
3-Methyladenine Class III PI 3-kinase inhibitor; also inhibits autophagy 5142-23-4
LY 294002 hydrochloride Prototypical PI 3-kinase inhibitor; also inhibits other kinases 934389-88-5
PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK 371935-79-4
Quercetin Non-selective PI 3-kinase inhibitor 117-39-5
Wortmannin Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 19545-26-7

(2) ApexBio Compounds for PIK3C3 Gene

Compound Action Cas Number
3-Methyladenine Class III PI3K inhibitor 5142-23-4
SAR405 Selective ATP-competitive inhibitor of Vps34 1523406-39-4
genes like me logo Genes that share compounds with PIK3C3: view

Drug Products

Transcripts for PIK3C3 Gene

Unigene Clusters for PIK3C3 Gene

Phosphatidylinositol 3-kinase, catalytic subunit type 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3C3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^
SP1: - - - - - -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d · 27e
SP1: - - - - -
SP2: - - - - -
SP3:
SP4: -
SP5: - - - -
SP6:
SP7: -
SP8: - - - - -
SP9:
SP10: - - - - - - - -
SP11:

Relevant External Links for PIK3C3 Gene

GeneLoc Exon Structure for
PIK3C3
ECgene alternative splicing isoforms for
PIK3C3

Expression for PIK3C3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIK3C3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIK3C3 Gene

This gene is overexpressed in Lymph node (17.8) and Peripheral blood mononuclear cells (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIK3C3 Gene



Protein tissue co-expression partners for PIK3C3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIK3C3 Gene:

PIK3C3

SOURCE GeneReport for Unigene cluster for PIK3C3 Gene:

Hs.464971

mRNA Expression by UniProt/SwissProt for PIK3C3 Gene:

Q8NEB9-PK3C3_HUMAN
Tissue specificity: Ubiquitously expressed, with a highest expression in skeletal muscle.

Evidence on tissue expression from TISSUES for PIK3C3 Gene

  • Nervous system(2.7)
  • Muscle(2.4)
  • Heart(2.2)
  • Liver(2.1)
  • Kidney(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with PIK3C3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3C3 Gene

Orthologs for PIK3C3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIK3C3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIK3C3 33 34
  • 99.66 (n)
oppossum
(Monodelphis domestica)
Mammalia PIK3C3 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3C3 33 34
  • 93.76 (n)
cow
(Bos Taurus)
Mammalia PIK3C3 33 34
  • 92.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3C3 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pik3c3 33 16 34
  • 87.75 (n)
rat
(Rattus norvegicus)
Mammalia Pik3c3 33
  • 87 (n)
chicken
(Gallus gallus)
Aves PIK3C3 33 34
  • 82.39 (n)
lizard
(Anolis carolinensis)
Reptilia PIK3C3 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3c3 33
  • 77.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11237 33
zebrafish
(Danio rerio)
Actinopterygii pik3c3 33 34
  • 73.63 (n)
wufc13g06 33
fruit fly
(Drosophila melanogaster)
Insecta Pi3K59F 35 33 34
  • 58.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010273 33
  • 41.33 (n)
worm
(Caenorhabditis elegans)
Secernentea vps-34 35 33 34
  • 50.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS34 33 34 36
  • 48.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18645g 33
  • 47.98 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL113C 33
  • 47.72 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS34 33
  • 53.23 (n)
soybean
(Glycine max)
eudicotyledons Gma.2544 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9995 33
rice
(Oryza sativa)
Liliopsida Os05g0180600 33
  • 51.98 (n)
Os.11111 33
barley
(Hordeum vulgare)
Liliopsida Hv.11305 33
wheat
(Triticum aestivum)
Liliopsida Ta.28795 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3927 34
  • 59 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pik3 33
  • 53.36 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00656 33
  • 48.62 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5903 33
Species where no ortholog for PIK3C3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PIK3C3 Gene

ENSEMBL:
Gene Tree for PIK3C3 (if available)
TreeFam:
Gene Tree for PIK3C3 (if available)

Paralogs for PIK3C3 Gene

Paralogs for PIK3C3 Gene

genes like me logo Genes that share paralogs with PIK3C3: view

Variants for PIK3C3 Gene

Sequence variations from dbSNP and Humsavar for PIK3C3 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000029849 -- 42,031,412(+) C/G intron_variant
rs1000036782 -- 42,061,701(+) A/G intron_variant
rs1000047343 -- 42,005,670(+) C/T intron_variant
rs1000081972 -- 42,031,055(+) T/C intron_variant
rs1000122049 -- 42,072,413(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3C3 Gene

Variant ID Type Subtype PubMed ID
dgv3342n100 CNV gain 25217958
dgv982e212 CNV gain 25503493
esv1001271 CNV insertion 20482838
esv1518239 CNV deletion 17803354
esv2316444 CNV deletion 18987734
esv2674644 CNV deletion 23128226
esv2717009 CNV deletion 23290073
esv2717010 CNV deletion 23290073
esv2717011 CNV deletion 23290073
esv2717012 CNV deletion 23290073
esv2762006 CNV gain 21179565
esv34153 CNV loss 18971310
esv3555276 CNV deletion 23714750
esv3642321 CNV gain 21293372
esv3642341 CNV loss 21293372
esv3642342 CNV gain 21293372
esv3642345 CNV gain 21293372
esv3642346 CNV loss 21293372
esv3642347 CNV gain 21293372
esv3893097 CNV gain 25118596
nsv131226 CNV deletion 16902084
nsv507870 OTHER sequence alteration 20534489
nsv833631 CNV loss 17160897

Variation tolerance for PIK3C3 Gene

Residual Variation Intolerance Score: 2.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIK3C3 Gene

Human Gene Mutation Database (HGMD)
PIK3C3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3C3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3C3 Gene

Disorders for PIK3C3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIK3C3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PIK3C3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PIK3C3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIK3C3 Gene

Publications for PIK3C3 Gene

  1. PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody. (PMID: 20208530) Sagona AP … Stenmark H (Nature cell biology 2010) 3 4 22 58
  2. Human VPS34 and p150 are Rab7 interacting partners. (PMID: 14617358) Stein MP … Wandinger-Ness A (Traffic (Copenhagen, Denmark) 2003) 3 4 22 58
  3. A human phosphatidylinositol 3-kinase complex related to the yeast Vps34p-Vps15p protein sorting system. (PMID: 7628435) Volinia S … Waterfield MD (The EMBO journal 1995) 2 3 4 58
  4. Architecture and dynamics of the autophagic phosphatidylinositol 3-kinase complex. (PMID: 25490155) Baskaran S … Hurley JH (eLife 2014) 3 4 58
  5. Beclin 2 functions in autophagy, degradation of G protein-coupled receptors, and metabolism. (PMID: 23954414) He C … Levine B (Cell 2013) 3 4 58

Products for PIK3C3 Gene

Sources for PIK3C3 Gene

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