• Gene id: 5287

Gene Summary

• Gene Symbol: PIK3C2B   Gene   UCSC   Ensembl
• Aliases: C2-PI3K
• Gene name: phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
• Alternate names: phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta, PI3K-C2-beta, PI3K-C2beta, PTDINS-3-kinase C2 beta, phosphatidylinositol 3-kinase C2 domain-containing beta polypeptide, phosphoinositide 3-kinase-C2-beta, phosphoinositide-3-kinase, c,
• Gene location: 1q32.1 (204494814: 204422632)     Exons: 36     NC_000001.11
• Gene summary(Entrez): 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 traffi
• OMIM: 612805

Protein Summary

• Protein general information: O00750  
  • Name: Phosphatidylinositol 4 phosphate 3 kinase C2 domain containing subunit beta (PI3K C2 beta) (PtdIns 3 kinase C2 subunit beta) (EC 2.7.1.154) (C2 PI3K) (Phosphoinositide 3 kinase C2 beta)
  • Length: 1634  
  • Mass: 184768
  • 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. {ECO
• Sequence:

  MSSTQGNGEHWKSLESVGISRKELAMAEALQMEYDALSRLRHDKEENRAKQNADPSLISWDEPGVDFYSKPAGRR
  TDLKLLRGLSGSDPTLNYNSLSPQEGPPNHSTSQGPQPGSDPWPKGSLSGDYLYIFDGSDGGVSSSPGPGDIEGS
  CKKLSPPPLPPRASIWDTPPLPPRKGSPSSSKISQPSDINTFSLVEQLPGKLLEHRILEEEEVLGGGGQGRLLGS
  VDYDGINDAITRLNLKSTYDAEMLRDATRGWKEGRGPLDFSKDTSGKPVARSKTMPPQVPPRTYASRYGNRKNAT
  PGKNRRISAAPVGSRPHTVANGHELFEVSEERDEEVAAFCHMLDILRSGSDIQDYFLTGYVWSAVTPSPEHLGDE
  VNLKVTVLCDRLQEALTFTCNCSSTVDLLIYQTLCYTHDDLRNVDVGDFVLKPCGLEEFLQNKHALGSHEYIQYC
  RKFDIDIRLQLMEQKVVRSDLARTVNDDQSPSTLNYLVHLQERPVKQTISRQALSLLFDTYHNEVDAFLLADGDF
  PLKADRVVQSVKAICNALAAVETPEITSALNQLPPCPSRMQPKIQKDPSVLAVRENREKVVEALTAAILDLVELY
  CNTFNADFQTAVPGSRKHDLVQEACHFARSLAFTVYATHRIPIIWATSYEDFYLSCSLSHGGKELCSPLQTRRAH
  FSKYLFHLIVWDQQICFPVQVNRLPRETLLCATLYALPIPPPGSSSEANKQRRVPEALGWVTTPLFNFRQVLTCG
  RKLLGLWPATQENPSARWSAPNFHQPDSVILQIDFPTSAFDIKFTSPPGDKFSPRYEFGSLREEDQRKLKDIMQK
  ESLYWLTDADKKRLWEKRYYCHSEVSSLPLVLASAPSWEWACLPDIYVLLKQWTHMNHQDALGLLHATFPDQEVR
  RMAVQWIGSLSDAELLDYLPQLVQALKYECYLDSPLVRFLLKRAVSDLRVTHYFFWLLKDGLKDSQFSIRYQYLL
  AALLCCCGKGLREEFNRQCWLVNALAKLAQQVREAAPSARQGILRTGLEEVKQFFALNGSCRLPLSPSLLVKGIV
  PRDCSYFNSNAVPLKLSFQNVDPLGENIRVIFKCGDDLRQDMLTLQMIRIMSKIWVQEGLDMRMVIFRCFSTGRG
  RGMVEMIPNAETLRKIQVEHGVTGSFKDRPLADWLQKHNPGEDEYEKAVENFIYSCAGCCVATYVLGICDRHNDN
  IMLKTTGHMFHIDFGRFLGHAQMFGNIKRDRAPFVFTSDMAYVINGGDKPSSRFHDFVDLCCQAYNLIRKHTHLF
  LNLLGLMLSCGIPELSDLEDLKYVYDALRPQDTEANATTYFTRLIESSLGSVATKLNFFIHNLAQMKFTGSDDRL
  TLSFASRTHTLKSSGRISDVFLCRHEKIFHPNKGYIYVVKVMRENTHEATYIQRTFEEFQELHNKLRLLFPSSHL
  PSFPSRFVIGRSRGEAVAERRREELNGYIWHLIHAPPEVAECDLVYTFFHPLPRDEKAMGTSPAPKSSDGTWARP
  VGKVGGEVKLSISYKNNKLFIMVMHIRGLQLLQDGNDPDPYVKIYLLPDPQKTTKRKTKVARKTCNPTYNEMLVY
  DGIPKGDLQQRELQLSVLSEQGFWENVLLGEVNIRLRELDLAQEKTGWFALGSRSHGTL

• Structural information:
  • Protein Domains: (375..46-)
    (/note="PI3K-RBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00879-)
    (635..78-)
    (/note="C2-PI3K-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041,-ECO:0000255|PROSITE-ProRule:PRU00880)
    (805..98-)
    (/note="PIK-helical)
    (-)
  • Interpro: IPR016024  IPR000008  IPR035892  IPR011009  IPR001683   IPR000403  IPR036940  IPR018936  IPR001263  IPR042236  IPR002420  IPR000341  IPR015433  IPR036871  IPR042134  IPR029071  
  • Prosite: PS50004 PS51547 PS00915 PS00916 PS50290 PS51546 PS51545 PS50195
  • CDD: cd07290
  • STRING: ENSP00000356155
• Other Databases: GeneCards:  PIK3C2B  Malacards:  PIK3C2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IBA	biological process
GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA	molecular function
GO:0016303	1-phosphatidylinositol-3-kinase activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0052742	phosphatidylinositol kinase activity	IBA	molecular function
GO:0016477	cell migration	IBA	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IBA	biological process
GO:0005942	phosphatidylinositol 3-kinase complex	IBA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905037	autophagosome organization	IEA	biological process
GO:0043491	protein kinase B signaling	IEA	biological process
GO:0001727	lipid kinase activity	IEA	molecular function
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0016236	macroautophagy	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity	NAS	molecular function
GO:0008150	biological_process	ND	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray