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The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II ... See more...
Aliases for PIK3C2B Gene
Aliases for PIK3C2B Gene
- Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta 2 3 5
- C2-PI3K 2 3 4
- Phosphatidylinositol 4-Phosphate 3-Kinase C2 Domain-Containing Subunit Beta 3 4
- Phosphoinositide-3-Kinase, Class 2, Beta Polypeptide 2 3
- Phosphoinositide 3-Kinase-C2-Beta 3 4
- PtdIns-3-Kinase C2 Subunit Beta 3 4
- PI3K-C2-Beta 3 4
External Ids for PIK3C2B Gene
- HGNC: 8972
- NCBI Entrez Gene: 5287
- Ensembl: ENSG00000133056
- OMIM®: 602838
- UniProtKB/Swiss-Prot: O00750
Previous GeneCards Identifiers for PIK3C2B Gene
- GC01M202118
- GC01M199852
- GC01M200752
- GC01M201569
- GC01M201123
- GC01M202658
- GC01M202538
- GC01M204391
- GC01M175556
Summaries for PIK3C2B Gene
-
The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
GeneCards Summary for PIK3C2B Gene
PIK3C2B (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta) is a Protein Coding gene. Diseases associated with PIK3C2B include Myopathy, Centronuclear, X-Linked. Among its related pathways are mTOR Pathway and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity. An important paralog of this gene is PIK3C2A.
UniProtKB/Swiss-Prot Summary for PIK3C2B Gene
-
Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns (PubMed:10805725, PubMed:9830063, PubMed:11533253). Does not phosphorylate PtdIns(4,5)P2 (PubMed:9830063). May be involved in EGF and PDGF signaling cascades (PubMed:10805725).
-
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 PIK3C2B Gene
- HGNC (8972)
- NCBI Entrez Gene (5287)
- Ensembl (ENSG00000133056)
- OMIM® (602838)
- UniProtKB/Swiss-Prot (O00750)
- Open Targets Platform(ENSG00000133056)
- Alliance of Genome Resources
- Search for PIK3C2B at DataMed
- Search for PIK3C2B at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIK3C2B Gene
Genomics for PIK3C2B Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PIK3C2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PIK3C2B on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIK3C2B
- Top Transcription factor binding sites by QIAGEN in the PIK3C2B gene promoter:
-
- aMEF-2
- Elk-1
- MEF-2A
- NF-AT
- NF-AT1
- NF-AT2
- NF-AT3
- NF-AT4
- Pax-4a
- PPAR-alpha
Genomic Locations for PIK3C2B Gene
Latest Assembly
- chr1:204,422,628-204,494,815
- (GRCh38/hg38)
- Size:
- 72,188 bases
- Orientation:
- Minus strand
Previous Assembly
- chr1:204,391,761-204,463,933
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 72,173 bases
- Orientation:
- Minus strand
Genomic View for PIK3C2B Gene
Genes around PIK3C2B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by HGNC
- 1q32.1 by Entrez Gene
- 1q32.1 by Ensembl
PIK3C2B 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 PIK3C2B Gene
Proteins for PIK3C2B Gene
-
Protein details for PIK3C2B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00750-P3C2B_HUMAN
- Recommended name:
- Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta
- Protein Accession:
- O00750
- O95666
- Q5SW99
Protein attributes for PIK3C2B Gene
- Size:
- 1634 amino acids
- Molecular mass:
- 184768 Da
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Part of a complex with ERBB2 and EGFR. Part of a complex with phosphorylated EGFR and GRB2. Interacts with phosphorylated EGFR and PDGFR, maybe indirectly. Interacts with GRB2.
- SequenceCaution:
-
- Sequence=CAA74194.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for PIK3C2B Gene
Selected DME Specific Peptides for PIK3C2B Gene
- O00750:
-
- FTRLIESSLGS
- FVDLCCQAYNLIRK
- CDRHNDNIML
- DRHNDNIM
- KRDRAPF
- EFQELHNKL
- TSDMAYVINGG
- DLRQDML
- QRELQLSVLS
- CVATYVLGI
- GVTGSFKD
Post-translational modifications for PIK3C2B Gene
Other Protein References for PIK3C2B Gene
Antibodies for research
- G Biosciences Immunotag™ P3C2B Polyclonal Antibody and Immunotag™ PIK3C2B Antibody
- Novus Biologicals Antibodies for PIK3C2B
-
Abcam antibodies for PIK3C2B
- Invitrogen Antibodies for PIK3C2B (AFLGC-PIK3C2B)
-
Custom Antibody ServicesProSci Antibodies for PIK3C2B
-
Santa Cruz Biotechnology (SCBT) Antibodies for PIK3C2B
Protein products for research
-
OriGene Purified Proteins for PIK3C2B
- Search Origene for MassSpec and Protein Over-expression Lysates for PIK3C2B
- Origene Custom Protein Services for PIK3C2B
- Novus Biologicals proteins for PIK3C2B
-
Abcam proteins for PIK3C2B
Assay products for research
Domains & Families for PIK3C2B Gene
Gene Families for PIK3C2B Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for PIK3C2B Gene
- InterPro:
- Blocks:
-
- C2 domain
- Phox-like
- Phosphatidylinositol 3- and 4-kinase
- Phosphoinositide 3-kinase, ras-binding domain
Suggested Antigen Peptide Sequences for PIK3C2B Gene
- GenScript: Design optimal peptide antigens:
-
- Phosphoinositide-3-kinase, class 2, beta polypeptide, isoform CRA_b (A2RUF7_HUMAN)
- PIK3C2B protein (B7ZM86_HUMAN)
- Phosphoinositide 3-kinase-C2-beta (P3C2B_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O00750- Family:
-
- Belongs to the PI3/PI4-kinase family.
Function for PIK3C2B Gene
Molecular function for PIK3C2B Gene
- UniProtKB/Swiss-Prot Function:
- Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns (PubMed:10805725, PubMed:9830063, PubMed:11533253). Does not phosphorylate PtdIns(4,5)P2 (PubMed:9830063). May be involved in EGF and PDGF signaling cascades (PubMed:10805725).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:18373, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57658, ChEBI:CHEBI:58178, ChEBI:CHEBI:456216; EC=2.7.1.154; Evidence={ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:9830063};.
- 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; Evidence={ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:11533253, ECO:0000269|PubMed:9830063};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=120 uM for ATP-Mg(2+) {ECO:0000269|PubMed:9830063}; KM=120 uM for ATP-Ca(2+) {ECO:0000269|PubMed:9830063}; Vmax=737 nmol/min/mg enzyme for ATP-Mg(2+) {ECO:0000269|PubMed:9830063}; Vmax=737 nmol/min/mg enzyme for ATP-Ca(2+) {ECO:0000269|PubMed:9830063};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by GRB2.
- GENATLAS Biochemistry:
- phosphatidylinositol 3-kinase,class 2,widely expressed
Enzyme Numbers (IUBMB) for PIK3C2B Gene
Phenotypes From GWAS Catalog for PIK3C2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0001727 | lipid kinase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 10805725 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016301 | kinase activity | IEA | -- |
Phenotypes for PIK3C2B Gene
- MGI mutant phenotypes for PIK3C2B:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PIK3C2B:
-
- shRNA abundance <= 50%
- no effect
- Decreased hepcidin::fluc mRNA expression
- Increased epidermal growth factor (EGF) endocytosis
- Increased cilium length after serum starvation
- Decreased telomerase activity
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased viability
- Decreased cell migration
- Decreased viability after gemcitabine stimulation
- Increased viability with tamoxifen
- Decreased cell viability after pRB stimulation
Animal Models for PIK3C2B Gene
- MGI Knock Outs for PIK3C2B:
-
- Pik3c2b Pik3c2b<tm1.1Pkha>
Animal Models for research
-
Taconic Biosciences Mouse Models for PIK3C2B
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PIK3C2B - Starting at $85 >
- * PIK3C2B CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PIK3C2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3C2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIK3C2B
miRNA for PIK3C2B Gene
- miRTarBase miRNAs that target PIK3C2B
-
- mmu-miR-301b-3p (MIRT007727)
- hsa-miR-335-5p (MIRT018449)
- hsa-miR-128-3p (MIRT022049)
- hsa-miR-15b-5p (MIRT046415)
- hsa-miR-4469 (MIRT183625)
- hsa-miR-218-5p (MIRT439974)
- hsa-miR-4314 (MIRT471074)
- hsa-miR-4753-3p (MIRT471075)
- hsa-miR-4672 (MIRT471076)
- hsa-miR-30e-5p (MIRT471077)
- hsa-miR-30d-5p (MIRT471078)
- hsa-miR-30c-5p (MIRT471079)
- hsa-miR-30b-5p (MIRT471080)
- hsa-miR-30a-5p (MIRT471081)
- hsa-miR-5196-5p (MIRT471082)
- hsa-miR-4747-5p (MIRT471083)
- hsa-miR-4795-5p (MIRT471084)
- hsa-miR-4320 (MIRT471085)
- hsa-miR-548ax (MIRT471086)
- hsa-miR-548ao-5p (MIRT471087)
- hsa-miR-302d-5p (MIRT471088)
- hsa-miR-6506-5p (MIRT471089)
- hsa-miR-302b-5p (MIRT471090)
- hsa-miR-619-5p (MIRT471091)
- hsa-miR-4646-5p (MIRT471092)
- hsa-miR-3192-5p (MIRT471093)
- hsa-miR-204-3p (MIRT471094)
- hsa-miR-130b-5p (MIRT471095)
- hsa-miR-4459 (MIRT471096)
- hsa-miR-4433a-3p (MIRT471097)
- hsa-miR-6768-5p (MIRT471098)
- hsa-miR-551b-5p (MIRT471099)
- hsa-miR-101-3p (MIRT471100)
- mmu-miR-1195 (MIRT600527)
- mmu-miR-3089-5p (MIRT600528)
- mmu-miR-376c-3p (MIRT600529)
- hsa-miR-4667-3p (MIRT625975)
- hsa-miR-1470 (MIRT625976)
- hsa-miR-520h (MIRT625977)
- hsa-miR-520g-3p (MIRT625978)
- hsa-miR-3973 (MIRT625979)
- hsa-miR-2114-5p (MIRT625980)
- hsa-miR-6507-3p (MIRT625981)
- hsa-miR-4774-5p (MIRT625982)
- hsa-miR-4490 (MIRT625983)
- hsa-miR-3613-3p (MIRT625984)
- hsa-miR-7151-5p (MIRT625985)
- hsa-miR-4668-3p (MIRT625986)
- hsa-miR-548c-3p (MIRT625987)
- hsa-miR-3679-3p (MIRT646110)
- hsa-miR-1236-3p (MIRT646111)
- hsa-miR-877-3p (MIRT646112)
- hsa-miR-4286 (MIRT646113)
- hsa-miR-483-3p (MIRT646114)
- hsa-miR-362-5p (MIRT735308)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIK3C2B
- Browse OriGene Inhibitory RNA Products For PIK3C2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3C2B
Clone products for research
- Applied Biological Materials (abm): Clones for PIK3C2B - Starting at $45 >
- * PIK3C2B as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PIK3C2B
- Addgene plasmids for PIK3C2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIK3C2B
Cell Lines for research
-
Horizon Cell Lines for PIK3C2B
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIK3C2B Gene
Localization for PIK3C2B Gene
Subcellular locations from UniProtKB/Swiss-Prot for PIK3C2B Gene
- Microsome. Cell membrane. Cytoplasm, cytosol. Nucleus. Endoplasmic reticulum. Note=Found mostly in the microsome, but also in the plasma membrane and cytosol. Nuclear in testis.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 3 |
| endosome | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
Pathways & Interactions for PIK3C2B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | superpathway of inositol phosphate compounds | ||
| 2 | Metabolism |
.40
|
|
| 3 | Apoptosis Pathway |
.39
|
|
| 4 | mTOR Pathway |
.38
.38
|
.32
|
| 5 | VEGF Pathway (Tocris) |
.36
|
|
Pathways by source for PIK3C2B Gene
1 Sino Biological pathway for PIK3C2B Gene
8 BioSystems pathways for PIK3C2B Gene
5 Reactome pathways for PIK3C2B Gene
4 PharmGKB pathways for PIK3C2B Gene
4 KEGG pathways for PIK3C2B Gene
1 R&D Systems pathway for PIK3C2B Gene
9 Tocris pathways for PIK3C2B Gene
3 Qiagen pathways for PIK3C2B Gene
- CD28 Signaling in T-Helper Cell
- ICos-ICosL Pathway in T-Helper Cell
- PI3K Signaling in B-Lymphocyte
1 GeneTex pathway for PIK3C2B Gene
Interacting Proteins for PIK3C2B Gene
Selected Interacting proteins:
O00750-P3C2B_HUMAN
ENSP00000356155
for PIK3C2B Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PIK3C2B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
| GO:0008150 | biological_process | ND | -- |
| GO:0009267 | cellular response to starvation | IEA | -- |
| GO:0014065 | phosphatidylinositol 3-kinase signaling | IBA | 21873635 |
| GO:0016236 | macroautophagy | IEA | -- |
Drugs & Compounds for PIK3C2B Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Manganese | Approved | Nutra | 65 | |||
| 3-Methyladenine | Experimental | Pharma | Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy | 0 | ||
| Quercetin | Experimental, Investigational | Pharma | Antitumor agent, Non-selective PI 3-kinase inhibitor | 68 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
58-64-0 |
|
|||
| LY 294002 hydrochloride |
|
934389-88-5 |
|
|
(5) Tocris Compounds for PIK3C2B 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 |
Transcripts for PIK3C2B Gene
mRNA/cDNA for PIK3C2B Gene
- 3 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367184 830 nts (view in UCSC)
- ENST00000367187 7686 nts (view in UCSC)
- ENST00000415899 846 nts (view in UCSC)
- ENST00000424712 7522 nts (view in UCSC)
- ENST00000429009 727 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PIK3C2B - Starting at $85 >
- * PIK3C2B CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PIK3C2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3C2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIK3C2B
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIK3C2B
- Browse OriGene Inhibitory RNA Products For PIK3C2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3C2B
Clone products for research
- Applied Biological Materials (abm): Clones for PIK3C2B - Starting at $45 >
- * PIK3C2B as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PIK3C2B
- Addgene plasmids for PIK3C2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIK3C2B
Relevant External Links for PIK3C2B Gene
- GeneLoc Exon Structure for
- PIK3C2B
Expression for PIK3C2B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
This gene is overexpressed in Serum (24.8), Plasma (16.3), and Testis (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIK3C2B Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIK3C2B
SOURCE GeneReport for Unigene cluster for PIK3C2B Gene:
Hs.497487mRNA Expression by UniProt/SwissProt for PIK3C2B Gene:
O00750-P3C2B_HUMAN
Tissue specificity:
Expressed in columnar and transitional epithelia, mononuclear cells, and ganglion cells (at protein level). Widely expressed, with highest levels in thymus and placenta and lowest in peripheral blood, skeletal muscle and kidney.
Evidence on tissue expression from TISSUES for PIK3C2B Gene
- Blood(4.4)
- Nervous system(3.1)
- Muscle(2.1)
- Skin(2.1)
- Kidney(2.1)
- Liver(2.1)
- Intestine(2)
Primer products for research
-
OriGene qPCR primer pairs for PIK3C2B
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3C2B Gene
Orthologs for PIK3C2B Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PIK3C2B 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PIK3C2B 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PIK3C2B 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PIK3C2B 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pik3c2b 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pik3c2b 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PIK3C2B 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PIK3C2B 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PIK3C2B 30 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | pik3c2b 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pi3K68D 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | piki-1 30 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPS34 30 |
|
OneToMany |
- Species where no ortholog for PIK3C2B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- 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 (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for PIK3C2B Gene
- ENSEMBL:
- Gene Tree for PIK3C2B (if available)
- TreeFam:
- Gene Tree for PIK3C2B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PIK3C2B: view image
- Alliance of Genome Resources:
- Additional Orthologs for PIK3C2B
Paralogs for PIK3C2B Gene
Paralogs for PIK3C2B Gene
(16) SIMAP similar genes for PIK3C2B Gene using alignment to 7 proteins:
- P3C2B_HUMAN
- A2RUF7_HUMAN
- B7ZM86_HUMAN
- F5GWN5_HUMAN
- Q5SW97_HUMAN
- Q5SW98_HUMAN
- Q5SWA0_HUMAN
Variants for PIK3C2B Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIK3C2B Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs115140808 | Benign: not provided | 204,424,953(-) |
C/T NM_002646.3(PIK3C2B):c.4804G>A (p.Val1602Ile) |
MISSENSE | |
| rs116752498 | Benign: not provided | 204,469,647(-) |
G/A NM_002646.3(PIK3C2B):c.156C>T (p.Asn52=) |
SYNONYMOUS | |
| rs144860399 | Benign: not provided | 204,433,901(-) |
G/A NM_002646.3(PIK3C2B):c.3735C>T (p.Asn1245=) |
SYNONYMOUS | |
| rs150291272 | Likely Benign: not provided | 204,434,558(-) |
G/A NM_002646.3(PIK3C2B):c.3567C>T (p.Tyr1189=) |
SYNONYMOUS | |
| rs369376392 | Likely Benign: not provided | 204,433,363(-) |
G/A NM_002646.3(PIK3C2B):c.3906C>T (p.Ala1302=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1350665 | CNV | deletion | 17803354 |
| esv2721851 | CNV | deletion | 23290073 |
| esv2721862 | CNV | deletion | 23290073 |
| esv2721873 | CNV | deletion | 23290073 |
| esv2721884 | CNV | deletion | 23290073 |
| esv2721895 | CNV | deletion | 23290073 |
| nsv516276 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.69;
66.06% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PIK3C2B Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3C2B Gene
Disorders for PIK3C2B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, centronuclear, x-linked |
|
|
Search PIK3C2B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PIK3C2B
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PIK3C2B Gene
Publications for PIK3C2B Gene
- Recruitment of the class II phosphoinositide 3-kinase C2beta to the epidermal growth factor receptor: role of Grb2. (PMID: 11533253) Wheeler M … Domin J (Molecular and cellular biology 2001) 3 4 22
- Class II phosphoinositide 3-kinases are downstream targets of activated polypeptide growth factor receptors. (PMID: 10805725) Arcaro A … Domin J (Molecular and cellular biology 2000) 3 4 22
- Human phosphoinositide 3-kinase C2beta, the role of calcium and the C2 domain in enzyme activity. (PMID: 9830063) Arcaro A … Waterfield MD (The Journal of biological chemistry 1998) 2 3 4
- Identification and cDNA cloning of a novel mammalian C2 domain-containing phosphoinositide 3-kinase, HsC2-PI3K. (PMID: 9144573) Brown RA … Fry MJ (Biochemical and biophysical research communications 1997) 2 3 4
- Pooled analysis of phosphatidylinositol 3-kinase pathway variants and risk of prostate cancer. (PMID: 20197460) Koutros S … Berndt SI (Cancer research 2010) 3 40
ExternalLinks
Products for PIK3C2B Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Taconic Biosciences Mouse Models for PIK3C2B
- Find your next knockout model in the Taconic Knockout Repository
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- Invitrogen Antibodies for PIK3C2B (AFLGC-PIK3C2B)
- VectorBuilder Custom and pre-made DNA vectors for PIK3C2B (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PIK3C2B (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PIK3C2B (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PIK3C2B CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PIK3C2B
- Addgene plasmids for PIK3C2B
- antibodies-online: Show 17 available PIK3C2B Antibodies ranked by validation data
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- antibodies-online: Search results for available PIK3C2B related products ranked by validation data
- antibodies-online: Show 7 available PIK3C2B Proteins ranked by validation data
- Compare Top PIK3C2B Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for PIK3C2B
- Search Santa Cruz Biotechnology (SCBT) for PIK3C2B siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PIK3C2B
- Horizon Cell Lines for PIK3C2B
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3C2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIK3C2B
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PIK3C2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3C2B
Sources for PIK3C2B Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (43) Atlas
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- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
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- (75) ESI-BIO
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- (146) RNAcentral
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