Gene Gene information from NCBI Gene database.
Entrez ID 5287
Gene name Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
Gene symbol PIK3C2B
Synonyms (NCBI Gene)
C2-PI3K
Chromosome 1
Chromosome location 1q32.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
631
miRTarBase ID miRNA Experiments Reference
MIRT018449 hsa-miR-335-5p Microarray 18185580
MIRT022049 hsa-miR-128-3p Microarray 17612493
MIRT046415 hsa-miR-15b-5p CLASH 23622248
MIRT625981 hsa-miR-6507-3p HITS-CLIP 23824327
MIRT625980 hsa-miR-2114-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001727 Function Lipid kinase activity IEA
GO:0005515 Function Protein binding IPI 10805725, 11533253, 15161933, 15778465, 17474147, 21706016, 22128329, 24658140, 28514442, 31980649, 33961781, 35271311, 35512704, 36931259
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602838 8972 ENSG00000133056
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00750
Protein name Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta (PI3K-C2-beta) (PtdIns-3-kinase C2 subunit beta) (EC 2.7.1.137) (EC 2.7.1.154) (C2-PI3K) (Phosphoinositide 3-kinase-C2-beta)
Protein function Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns (PubMed:10805725, PubMed:11533253, PubMed:9830063). Does not phosphorylate PtdIns(4,5)P2 (PubMed:9830063). May be involved in EGF and PDGF signaling cascades (PubMed:10805725). {ECO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00794 PI3K_rbd 364 466 PI3-kinase family, ras-binding domain Domain
PF00792 PI3K_C2 648 788 Phosphoinositide 3-kinase C2 Domain
PF00613 PI3Ka 809 991 Phosphoinositide 3-kinase family, accessory domain (PIK domain) Family
PF00454 PI3_PI4_kinase 1077 1292 Phosphatidylinositol 3- and 4-kinase Family
PF00787 PX 1392 1477 PX domain Domain
PF00168 C2 1517 1626 C2 domain Domain
Tissue specificity 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:0
Sequence
MSSTQGNGEHWKSLESVGISRKELAMAEALQMEYDALSRLRHDKEENRAKQNADPSLISW
DEPGVDFYSKPAGRRTDLKLLRGLSGSDPTLNYNSLSPQEGPPNHSTSQGPQPGSDPWPK
GSLSGDYLYIFDGSDGGVSSSPGPGDIEGSCKKLSPPPLPPRASIWDTPPLPPRKGSPSS
SKISQPSDINTFSLVEQLPGKLLEHRILEEEEVLGGGGQGRLLGSVDYDGINDAITRLNL
KSTYDAEMLRDATRGWKEGRGPLDFSKDTSGKPVARSKTMPPQVPPRTYASRYGNRKNAT
PGKNRRISAAPVGSRPHTVANGHELFEVSEERDEEVAAFCHMLDILRSGSDIQDYFLTGY
VWSAVTPSPEHLGDEVNLKVTVLCDRLQEALTFTCNCSSTVDLLIYQTLCYTHDDLRNVD
VGDFVLKPCGLEEFLQNKHALGSHEYIQYCRKFDIDIRLQLMEQKV
VRSDLARTVNDDQS
PSTLNYLVHLQERPVKQTISRQALSLLFDTYHNEVDAFLLADGDFPLKADRVVQSVKAIC
NALAAVETPEITSALNQLPPCPSRMQPKIQKDPSVLAVRENREKVVEALTAAILDLVELY
CNTFNADFQTAVPGSRKHDLVQEACHFARSLAFTVYATHRIPIIWATSYEDFYLSCSLSH
GGKELCSPLQTRRAHFSKYLFHLIVWDQQICFPVQVNRLPRETLLCATLYALPIPPPGSS
SEANKQRRVPEALGWVTTPLFNFRQVLTCGRKLLGLWPATQENPSARWSAPNFHQPDSVI
LQIDFPTS
AFDIKFTSPPGDKFSPRYEFGSLREEDQRKLKDIMQKESLYWLTDADKKRLW
EKRYYCHSEVSSLPLVLASAPSWEWACLPDIYVLLKQWTHMNHQDALGLLHATFPDQEVR
RMAVQWIGSLSDAELLDYLPQLVQALKYECYLDSPLVRFLLKRAVSDLRVTHYFFWLLKD
GLKDSQFSIRYQYLLAALLCCCGKGLREEFN
RQCWLVNALAKLAQQVREAAPSARQGILR
TGLEEVKQFFALNGSCRLPLSPSLLVKGIVPRDCSYFNSNAVPLKLSFQNVDPLGENIRV
IFKCGDDLRQDMLTLQMIRIMSKIWVQEGLDMRMVIFRCFSTGRGRGMVEMIPNAETLRK
IQVEHGVTGSFKDRPLADWLQKHNPGEDEYEKAVENFIYSCAGCCVATYVLGICDRHNDN
IMLKTTGHMFHIDFGRFLGHAQMFGNIKRDRAPFVFTSDMAYVINGGDKPSSRFHDFVDL
CCQAYNLIRKHTHLFLNLLGLMLSCGIPELSD
LEDLKYVYDALRPQDTEANATTYFTRLI
ESSLGSVATKLNFFIHNLAQMKFTGSDDRLTLSFASRTHTLKSSGRISDVFLCRHEKIFH
PNKGYIYVVKVMRENTHEATYIQRTFEEFQELHNKLRLLFPSSHLPSFPSRFVIGRSRGE
AVAERRREELNGYIWHLIHAPPEVAECDLVYTFFHPL
PRDEKAMGTSPAPKSSDGTWARP
VGKVGGEVKLSISYKNNKLFIMVMHIRGLQLLQDGNDPDPYVKIYLLPDPQKTTKRKTKV
ARKTCNPTYNEMLVYDGIPKGDLQQRELQLSVLSEQGFWENVLLGEVNIRLRELDLAQEK
TGWFAL
GSRSHGTL
Sequence length 1634
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Salmonella infection
  Synthesis of PIPs at the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Brain Neoplasms Associate 35641277
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 29088297
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 21946537
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Associate 21986133
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Associate 21986133
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 14655756, 19189657, 20406234, 35641277
★☆☆☆☆
Found in Text Mining only
Hirschsprung Disease Associate 32948616
★☆☆☆☆
Found in Text Mining only
HIV Infections Associate 32330555
★☆☆☆☆
Found in Text Mining only
Leukemia Associate 21946537
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 35641277
★☆☆☆☆
Found in Text Mining only