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Aliases for PIK3C3 Gene
Aliases for PIK3C3 Gene
External Ids for PIK3C3 Gene
- HGNC: 8974
- Entrez Gene: 5289
- Ensembl: ENSG00000078142
- OMIM: 602609
- UniProtKB: Q8NEB9
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 Myopathy, X-Linked, With Excessive Autophagy and Danon Disease. Among its related pathways are Macroautophagy and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding. An important paralog of this gene is PIK3CG.
UniProtKB/Swiss-Prot Summary 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).
-
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.
Additional gene information for PIK3C3 Gene
- HGNC(8974)
- Entrez Gene(5289)
- Ensembl(ENSG00000078142)
- OMIM(602609)
- UniProtKB(Q8NEB9)
- Open Targets Platform(ENSG00000078142)
- Search for PIK3C3 at DataMed
- Search for PIK3C3 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIK3C3 Gene
Genomics for PIK3C3 Gene
GeneHancer (GH) Regulatory Elements Pubs
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH18J041954 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 607.9 | +0.5 | 493 | 2.6 | SIX5 ETV6 FOXA1 GABPA PHF21A RBFOX2 PKNOX1 POLR2A PATZ1 SP1 | PIK3C3 HSALNG0121156 | |
| GH18J041991 | Enhancer | 1 | Ensembl ENCODE | 12.1 | +36.8 | 36775 | 2.8 | ARHGAP35 BACH1 STAT3 PKNOX1 POLR2A TCF12 IKZF2 TRIM22 HDAC1 SOX6 | PIK3C3 HSALNG0121156 ENSG00000276174 | |
| GH18J042113 | Enhancer | 0.8 | ENCODE | 10.5 | +158.9 | 158913 | 1.9 | GATAD2A CTCF TEAD4 ZNF143 REST RAD21 SP1 TRIM22 YY1 FOXJ2 | ENSG00000287007 PIK3C3 HSALNG0121166 | |
| GH18J041937 | Enhancer | 1 | FANTOM5 Ensembl ENCODE | 6.5 | -16.3 | -16268 | 5.5 | ZNF512 PKNOX1 IKZF2 CTCF RELB JUND CEBPB TSC22D4 FOS HDGF | PIK3C3 LOC105372085 | |
| GH18J041982 | Enhancer | 0.5 | Ensembl | 12.2 | +27.8 | 27775 | 1.6 | IKZF2 JUNB TBX21 ATF7 MTA2 | PIK3C3 HSALNG0121156 ENSG00000276174 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PIK3C3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIK3C3
- Top Transcription factor binding sites by QIAGEN in the PIK3C3 gene promoter:
-
- ATF6
- Bach1
- Evi-1
- GATA-6
- Gfi-1
- HNF-1
- HNF-1A
- Ik-1
- p53
- Sox9
Genomic Locations for PIK3C3 Gene
Genomic Locations for PIK3C3 Gene
- chr18:41,955,226-42,087,830
- (GRCh38/hg38)
- Size:
- 132,605 bases
- Orientation:
- Plus strand
- chr18:39,535,171-39,667,794
- (GRCh37/hg19)
- Size:
- 132,624 bases
- Orientation:
- Plus strand
Genomic View for PIK3C3 Gene
Genes around PIK3C3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q12.3 by HGNC
- 18q12.3 by Entrez Gene
- 18q12.3 by Ensembl
PIK3C3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with ATG14; this interaction is increased in the absence of TMEM39A (PubMed:31806350).
Protein Expression 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
Other Protein References for PIK3C3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ PIK3C3 Antibody
- GeneTex Anti-VPS34 antibody and Anti-VPS34 antibody [C1C3]
- Novus Biologicals Antibodies for PIK3C3
-
Abcam antibodies for PIK3C3
- Invitrogen Antibodies for PIK3C3 (AFLGC-Pik3c3)
- antibodies-online: Show 98 available PIK3C3 Antibodies ranked by validation data
- Compare Top PIK3C3 Antibodies
-
Recommended
- 125 WB Antibodies (anti-human)
- 36 IF (p) Antibodies (anti-human)
- 3 DB Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- 36 IF (p) Antibodies (anti-rat)
- 34 WB Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 46 WB Antibodies (anti-mouse)
- 36 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
-
Boster Bio Antibodies for PIK3C3
-
Custom Antibody ServicesProSci Antibodies for PIK3C3
-
Santa Cruz Biotechnology (SCBT) Antibodies for PIK3C3
- Sino Biological Antibodies for PIK3C3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PIK3C3
- Origene Custom Protein Services for PIK3C3
-
Abcam proteins for PIK3C3
Assay Products
Domains & Families for PIK3C3 Gene
Gene Families for PIK3C3 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for PIK3C3 Gene
- InterPro:
- Blocks:
-
- C2 domain
- Phosphatidylinositol 3- and 4-kinase
- ProtoNet:
Suggested Antigen Peptide Sequences for PIK3C3 Gene
- GenScript: Design optimal peptide antigens:
-
- hVps34 (PK3C3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NEB9- Family:
-
- Belongs to the PI3/PI4-kinase family.
Function for PIK3C3 Gene
Molecular function for PIK3C3 Gene
- 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + ADP + H(+); Xref=Rhea:RHEA:12709, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088, ChEBI:CHEBI:456216; EC=2.7.1.137;.
Enzyme Numbers (IUBMB) for PIK3C3 Gene
Phenotypes From GWAS Catalog 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 | IEA,IDA | 25327288 |
Phenotypes for PIK3C3 Gene
- MGI mutant phenotypes for PIK3C3:
-
inferred from 6 alleles
- nervous system phenotype
- immune system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- vision/eye phenotype
- hematopoietic system phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for PIK3C3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased viability after Maraba virus infection
- Increased epidermal growth factor receptor (EGFR) surface abundance
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased viability
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Increased cilium length after serum starvation
- Decreased viability after gemcitabine stimulation
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased FA abundance, increased peripheral FA formation, increased cell spreading
Animal Models for PIK3C3 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for PIK3C3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIK3C3 - Select products 50% OFF >
- * PIK3C3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PIK3C3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3C3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIK3C3
miRNA for PIK3C3 Gene
- miRTarBase miRNAs that target PIK3C3
-
- hsa-miR-98-5p (MIRT027827)
- hsa-miR-149-5p (MIRT045507)
- hsa-miR-3978 (MIRT497902)
- hsa-miR-4709-3p (MIRT497903)
- hsa-miR-6124 (MIRT497904)
- hsa-miR-3148 (MIRT497905)
- hsa-miR-4699-5p (MIRT497906)
- hsa-miR-4635 (MIRT497907)
- hsa-miR-5579-5p (MIRT497908)
- hsa-miR-5583-3p (MIRT497909)
- hsa-miR-129-5p (MIRT783562)
- hsa-miR-29b-2-5p (MIRT784410)
- hsa-miR-5087 (MIRT787066)
- hsa-miR-659-3p (MIRT788399)
- hsa-miR-8068 (MIRT789794)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIK3C3
- Browse OriGene Inhibitory RNA Products For PIK3C3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3C3
Clone Products
- Applied Biological Materials (abm): Clones for PIK3C3 - Select products 50% OFF >
- * PIK3C3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PIK3C3
- Addgene plasmids for PIK3C3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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}.
| Compartment | Confidence |
|---|---|
| endosome | 5 |
| cytosol | 5 |
| lysosome | 5 |
| cytoskeleton | 4 |
| peroxisome | 4 |
| mitochondrion | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| golgi apparatus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000407 | phagophore assembly site | IBA | 21873635 |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005768 | endosome | IBA | 21873635 |
| GO:0005770 | late endosome | IEA,IDA | 14617358 |
| GO:0005776 | autophagosome | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIK3C3 Gene
Pathways & Interactions for PIK3C3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling | ||
| 2 | Inositol phosphate metabolism (KEGG) | ||
| 3 | PI Metabolism |
.63
|
|
| 4 | Metabolism |
.40
|
|
| 5 | Apoptosis Pathway |
.39
|
|
Pathways by source for PIK3C3 Gene
2 Sino Biological pathways for PIK3C3 Gene
8 BioSystems pathways for PIK3C3 Gene
24 Reactome pathways for PIK3C3 Gene
14 KEGG pathways for PIK3C3 Gene
4 GeneGo (Thomson Reuters) pathways for PIK3C3 Gene
- Delta508-CFTR traffic / Sorting endosome formation in CF
- Normal wtCFTR traffic / Sorting endosome formation
- Transport Clathrin-coated vesicle cycle
- wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
9 Tocris pathways for PIK3C3 Gene
3 Qiagen pathways for PIK3C3 Gene
- CD28 Signaling in T-Helper Cell
- ICos-ICosL Pathway in T-Helper Cell
- PI3K Signaling in B-Lymphocyte
3 Cell Signaling Technology pathways for PIK3C3 Gene
2 GeneTex pathways for PIK3C3 Gene
Interacting Proteins for PIK3C3 Gene
Selected Interacting proteins:
Q8NEB9-PK3C3_HUMAN
ENSP00000262039
for PIK3C3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PIK3C3
SIGNOR curated interactions for PIK3C3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000045 | autophagosome assembly | IEA,IBA | 21873635 |
| GO:0006468 | protein phosphorylation | IEA | -- |
| GO:0006497 | protein lipidation | IMP | 25327288 |
| GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
| GO:0006897 | endocytosis | IBA | 21873635 |
Drugs & Compounds for PIK3C3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Manganese | Approved | Nutra | 56 | |||
| 3-Methyladenine | Experimental | Pharma | Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy | 0 | ||
| N-(5-{4-Chloro-3-[(2-hydroxyethyl)sulfamoyl]phenyl}-4-methyl-1,3-thiazol-2-yl)acetamide | Experimental | Pharma | Target | 0 | ||
| Quercetin | Experimental, Investigational | Pharma | Antitumor agent, Non-selective PI 3-kinase inhibitor | 54 | ||
| Wortmannin | Experimental | Pharma | PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1D-Myo-inositol 1,3-bisphosphate |
|
103597-56-4 |
|
|
||
| 1-Phosphatidyl-1D-myo-inositol 3-phosphate |
|
|
||||
| 1-Phosphatidyl-D-myo-inositol |
|
|
||||
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
| 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 |
Transcripts for PIK3C3 Gene
mRNA/cDNA for PIK3C3 Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262039 9415 nts (view in UCSC)
- ENST00000398870 9206 nts (view in UCSC)
- ENST00000585528 533 nts (view in UCSC)
- ENST00000586545 1554 nts (view in UCSC)
- ENST00000587261 628 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIK3C3 - Select products 50% OFF >
- * PIK3C3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PIK3C3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3C3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIK3C3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIK3C3
- Browse OriGene Inhibitory RNA Products For PIK3C3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3C3
Clone Products
- Applied Biological Materials (abm): Clones for PIK3C3 - Select products 50% OFF >
- * PIK3C3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PIK3C3
- Addgene plasmids for PIK3C3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIK3C3
| 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
Expression for PIK3C3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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, MaxQB, and MOPED for PIK3C3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIK3C3
SOURCE GeneReport for Unigene cluster for PIK3C3 Gene:
Hs.464971mRNA 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(3.3)
- Liver(3.1)
- Lung(3.1)
- Kidney(3.1)
- Muscle(3.1)
- Heart(3)
- Spleen(3)
- Skin(2.8)
- Blood(2.8)
- Intestine(2.8)
- Lymph node(2.6)
- Pancreas(2.5)
- Adrenal gland(2.4)
- Bone marrow(2.4)
- Eye(2.2)
- Thyroid gland(2.2)
- Stomach(2.2)
Primer Products
-
OriGene qPCR primer pairs for PIK3C3
-
OriGene qPCR primer pairs and template standards for PIK3C3
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PIK3C3 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PIK3C3 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PIK3C3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PIK3C3 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PIK3C3 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pik3c3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pik3c3 30 |
|
||
| Chicken (Gallus gallus) |
Aves | PIK3C3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PIK3C3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pik3c3 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11237 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pik3c3 30 31 |
|
OneToOne | |
| wufc13g06 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pi3K59F 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010273 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | vps-34 30 31 32 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPS34 30 31 33 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D18645g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL113C 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | VPS34 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.9995 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.2544 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os05g0180600 30 |
|
||
| Os.11111 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.11305 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.28795 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3927 31 |
|
OneToOne | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pik3 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU00656 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5903 30 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PIK3C3: view image
Paralogs for PIK3C3 Gene
Paralogs for PIK3C3 Gene
(5) SIMAP similar genes for PIK3C3 Gene using alignment to 13 proteins:
- PK3C3_HUMAN
- A8MYT4_HUMAN
- K7EIV6_HUMAN
- K7EKH3_HUMAN
- K7ENH3_HUMAN
- M0QXS9_HUMAN
- M0QZG0_HUMAN
- M0R0G8_HUMAN
- M0R0U1_HUMAN
- M0R0W7_HUMAN
- M0R2C5_HUMAN
- M0R308_HUMAN
- M0R386_HUMAN
Variants for PIK3C3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIK3C3 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 722305 | Benign: not provided | 42,067,450(+) | G/A | SYNONYMOUS_VARIANT | |
| 747993 | Likely Benign: not provided | 42,043,805(+) | G/A | MISSENSE_VARIANT | |
| 782554 | Benign: not provided | 42,004,549(+) | ATTAT/A | INTRON_VARIANT | |
| 783802 | Benign: not provided | 42,004,523(+) | G/A | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3C3 Gene
Disorders for PIK3C3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, x-linked, with excessive autophagy |
|
|
| danon disease |
|
|
| myopathy, centronuclear, x-linked |
|
|
| alzheimer disease |
|
|
| centronuclear myopathy |
|
|
Search PIK3C3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PIK3C3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PIK3C3 Gene
Publications for PIK3C3 Gene
- 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 23
- Human VPS34 and p150 are Rab7 interacting partners. (PMID: 14617358) Stein MP … Wandinger-Ness A (Traffic (Copenhagen, Denmark) 2003) 3 4 23
- 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
- The ER-Localized Transmembrane Protein TMEM39A/SUSR2 Regulates Autophagy by Controlling the Trafficking of the PtdIns(4)P Phosphatase SAC1. (PMID: 31806350) Miao G … Zhang H (Molecular cell 2020) 3 4
- Architecture and dynamics of the autophagic phosphatidylinositol 3-kinase complex. (PMID: 25490155) Baskaran S … Hurley JH (eLife 2014) 3 4
ExternalLinks
Products for PIK3C3 Gene
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Sources for PIK3C3 Gene
- (1) GeneCards
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